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Volumn 23, Issue 2, 2005, Pages 276-292

Hereditary cancer predisposition syndromes

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CA 125 ANTIGEN; CELECOXIB; CYCLOOXYGENASE 2 INHIBITOR; ESTROGEN PLUS PROGESTIN; FINASTERIDE; ORAL CONTRACEPTIVE AGENT; RALOXIFENE; SULINDAC; TAMOXIFEN; UNCLASSIFIED DRUG;

EID: 13744263782     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2005.10.042     Document Type: Review
Times cited : (499)

References (198)
  • 1
    • 0029864134 scopus 로고    scopus 로고
    • Genetic testing for cancer susceptibility, Adopted on February 20, 1996
    • Statement of the American Society of Clinical Oncology
    • Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility, Adopted on February 20, 1996. J Clin Oncol 14:1730-1740, 1996
    • (1996) J Clin Oncol , vol.14 , pp. 1730-1740
  • 2
    • 0038501057 scopus 로고    scopus 로고
    • Genetic testing for cancer susceptibility
    • American Society of Clinical Oncology policy statement update
    • American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility. J Clin Oncol 21:2397-2406, 2003
    • (2003) J Clin Oncol , vol.21 , pp. 2397-2406
  • 3
    • 0030900128 scopus 로고    scopus 로고
    • American Society of Clinical Oncology
    • Resource document for curriculum development in cancer genetics education
    • Resource document for curriculum development in cancer genetics education. American Society of Clinical Oncology. J Clin Oncol 15:2157-2169, 1997
    • (1997) J Clin Oncol , vol.15 , pp. 2157-2169
  • 5
    • 0022506980 scopus 로고
    • A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
    • Friend SH, Bernards R, Rogelj S, et al: A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 323:643-646, 1986
    • (1986) Nature , vol.323 , pp. 643-646
    • Friend, S.H.1    Bernards, R.2    Rogelj, S.3
  • 6
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • Knudson AG, Jr.: Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 68:820-823, 1971
    • (1971) Proc Natl Acad Sci U S A , vol.68 , pp. 820-823
    • Knudson Jr., A.G.1
  • 7
    • 3342996653 scopus 로고    scopus 로고
    • Retinoblastoma: Revisiting the model prototype of inherited cancer
    • Lohmann DR, Gallie BL: Retinoblastoma: Revisiting the model prototype of inherited cancer. Am J Med Genet 129C:23-28, 2004
    • (2004) Am J Med Genet , vol.129 C , pp. 23-28
    • Lohmann, D.R.1    Gallie, B.L.2
  • 8
    • 0032128398 scopus 로고    scopus 로고
    • Trilateral retinoblastoma: Insights into histogenesis and management
    • Marcus DM, Brooks SE, Left G, et al: Trilateral retinoblastoma: insights into histogenesis and management. Surv Ophthalmol 43:59-70, 1998
    • (1998) Surv Ophthalmol , vol.43 , pp. 59-70
    • Marcus, D.M.1    Brooks, S.E.2    Left, G.3
  • 9
    • 0027172571 scopus 로고
    • Mortality from second tumors among long-term survivors of retinoblastoma
    • Eng C, Li FP, Abramson DH, et al: Mortality from second tumors among long-term survivors of retinoblastoma. J Natl Cancer Inst 85:1121-1128, 1993
    • (1993) J Natl Cancer Inst , vol.85 , pp. 1121-1128
    • Eng, C.1    Li, F.P.2    Abramson, D.H.3
  • 10
    • 0030822570 scopus 로고    scopus 로고
    • Predictive testing for retinoblastoma comes of age
    • Gallie BL: Predictive testing for retinoblastoma comes of age. Am J Hum Genet 61:279-281, 1997
    • (1997) Am J Hum Genet , vol.61 , pp. 279-281
    • Gallie, B.L.1
  • 11
    • 0034762772 scopus 로고    scopus 로고
    • Molecular basis of low-penetrance retinoblastoma
    • Harbour JW: Molecular basis of low-penetrance retinoblastoma. Arch Ophthalmol 119:1699-1704, 2001
    • (2001) Arch Ophthalmol , vol.119 , pp. 1699-1704
    • Harbour, J.W.1
  • 12
    • 0034797978 scopus 로고    scopus 로고
    • RB1 genetic testing as a clinical service: A follow-up study
    • Cohen JG, Dryja TP, Davis KB, et al: RB1 genetic testing as a clinical service: a follow-up study. Med Pediatr Oncol 37:372-378, 2001
    • (2001) Med Pediatr Oncol , vol.37 , pp. 372-378
    • Cohen, J.G.1    Dryja, T.P.2    Davis, K.B.3
  • 13
    • 0037292375 scopus 로고    scopus 로고
    • First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers
    • Girardet A, Hamamah S, Anahory T, et al: First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers. Mol Hum Reprod 9:111-116, 2003
    • (2003) Mol Hum Reprod , vol.9 , pp. 111-116
    • Girardet, A.1    Hamamah, S.2    Anahory, T.3
  • 14
    • 0029814661 scopus 로고    scopus 로고
    • Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma
    • Noorani HZ, Khan HN, Gallie BL, et al: Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. Am J Hum Genet 59:301-307, 1996
    • (1996) Am J Hum Genet , vol.59 , pp. 301-307
    • Noorani, H.Z.1    Khan, H.N.2    Gallie, B.L.3
  • 15
    • 0030881844 scopus 로고    scopus 로고
    • Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma
    • Lohmann DR, Gerick M, Brandt B, et al: Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma. Am J Hum Genet 61:282-294, 1997
    • (1997) Am J Hum Genet , vol.61 , pp. 282-294
    • Lohmann, D.R.1    Gerick, M.2    Brandt, B.3
  • 16
    • 0031033506 scopus 로고    scopus 로고
    • Hereditary retinoblastoma, lipoma, and second primary cancers
    • Li FP, Abramson DH, Tarone RE, et al: Hereditary retinoblastoma, lipoma, and second primary cancers. J Natl Cancer Inst 89:83-84, 1997
    • (1997) J Natl Cancer Inst , vol.89 , pp. 83-84
    • Li, F.P.1    Abramson, D.H.2    Tarone, R.E.3
  • 17
    • 1542318327 scopus 로고    scopus 로고
    • Lifetime risks of common cancers among retinoblastoma survivors
    • Fletcher O, Easton D, Anderson K, et al: Lifetime risks of common cancers among retinoblastoma survivors. J Natl Cancer Inst 96:357-363, 2004
    • (2004) J Natl Cancer Inst , vol.96 , pp. 357-363
    • Fletcher, O.1    Easton, D.2    Anderson, K.3
  • 18
    • 0038744296 scopus 로고    scopus 로고
    • Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies
    • Antoniou A, Pharoah PD, Narod S, et al: Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet 72:1117-1130, 2003
    • (2003) Am J Hum Genet , vol.72 , pp. 1117-1130
    • Antoniou, A.1    Pharoah, P.D.2    Narod, S.3
  • 19
    • 0036578764 scopus 로고    scopus 로고
    • Polygenic susceptibility to breast cancer and implications for prevention
    • Pharoah PD, Antoniou A, Bobrow M, et al: Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 31:33-36, 2002
    • (2002) Nat Genet , vol.31 , pp. 33-36
    • Pharoah, P.D.1    Antoniou, A.2    Bobrow, M.3
  • 20
    • 0031025322 scopus 로고    scopus 로고
    • Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: Results from three U.S. population-based case-control studies of ovarian cancer
    • Whittemore AS, Gong G, Itnyre J: Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: Results from three U.S. population-based case-control studies of ovarian cancer. Am J Hum Genet 60:496-504, 1997
    • (1997) Am J Hum Genet , vol.60 , pp. 496-504
    • Whittemore, A.S.1    Gong, G.2    Itnyre, J.3
  • 21
    • 17344365851 scopus 로고    scopus 로고
    • Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium
    • Ford D, Easton DF, Stratton M, et al: Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62:676-689, 1998
    • (1998) Am J Hum Genet , vol.62 , pp. 676-689
    • Ford, D.1    Easton, D.F.2    Stratton, M.3
  • 22
    • 0037087536 scopus 로고    scopus 로고
    • Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals
    • Frank TS, Deffenbaugh AM, Reid JE, et al: Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals. J Clin Oncol 20:1480-1490, 2002
    • (2002) J Clin Oncol , vol.20 , pp. 1480-1490
    • Frank, T.S.1    Deffenbaugh, A.M.2    Reid, J.E.3
  • 23
    • 0030957152 scopus 로고    scopus 로고
    • Li-Fraumeni syndrome-a molecular and clinical review
    • Varley JM, Evans DG, Birch JM: Li-Fraumeni syndrome-a molecular and clinical review. Br J Cancer 76:1-14, 1997
    • (1997) Br J Cancer , vol.76 , pp. 1-14
    • Varley, J.M.1    Evans, D.G.2    Birch, J.M.3
  • 24
    • 0037370476 scopus 로고    scopus 로고
    • The genetics and genomics of cancer
    • suppl
    • Balmain A, Gray J, Ponder B: The genetics and genomics of cancer. Nat Genet 33:238-244, 2003 (suppl)
    • (2003) Nat Genet , vol.33 , pp. 238-244
    • Balmain, A.1    Gray, J.2    Ponder, B.3
  • 25
    • 0034028739 scopus 로고    scopus 로고
    • Clinico-pathological characteristics of BRCA1-and BRCA2-related breast cancer
    • Chappuis PO, Nethercot V, Foulkes WD: Clinico-pathological characteristics of BRCA1-and BRCA2-related breast cancer. Semin Surg Oncol 18:287-295, 2000
    • (2000) Semin Surg Oncol , vol.18 , pp. 287-295
    • Chappuis, P.O.1    Nethercot, V.2    Foulkes, W.D.3
  • 26
    • 0032745897 scopus 로고    scopus 로고
    • Breast carcinomas arising in carriers of mutations in BRCA1 or BRCA2: Are they prognostically different?
    • Phillips KA, Andrulis IL, Goodwin PJ: Breast carcinomas arising in carriers of mutations in BRCA1 or BRCA2: Are they prognostically different? J Clin Oncol 17:3653-3663, 1999
    • (1999) J Clin Oncol , vol.17 , pp. 3653-3663
    • Phillips, K.A.1    Andrulis, I.L.2    Goodwin, P.J.3
  • 27
    • 4544374528 scopus 로고    scopus 로고
    • BRCA1 and BRCA2: 1994 and beyond
    • Narod SA, Foulkes WD: BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4:665-676, 2004
    • (2004) Nat Rev Cancer , vol.4 , pp. 665-676
    • Narod, S.A.1    Foulkes, W.D.2
  • 28
    • 0037478605 scopus 로고    scopus 로고
    • Repeated observation of breast tumor subtypes in independent gene expression data sets
    • Sorlie T, Tibshirani R, Parker J, et al: Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci U S A 100:8418-8423, 2003
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 8418-8423
    • Sorlie, T.1    Tibshirani, R.2    Parker, J.3
  • 29
    • 0032517356 scopus 로고    scopus 로고
    • BRCA1 and medullary breast cancer
    • Eisinger F, Nogues C, Birnbaum D, et al: BRCA1 and medullary breast cancer. JAMA 280:1227-1228, 1998
    • (1998) JAMA , vol.280 , pp. 1227-1228
    • Eisinger, F.1    Nogues, C.2    Birnbaum, D.3
  • 30
    • 0037162110 scopus 로고    scopus 로고
    • Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations
    • Rebbeck TR, Lynch HT, Neuhausen SL, et al: Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 346:1616-1622, 2002
    • (2002) N Engl J Med , vol.346 , pp. 1616-1622
    • Rebbeck, T.R.1    Lynch, H.T.2    Neuhausen, S.L.3
  • 31
    • 0037162115 scopus 로고    scopus 로고
    • Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation
    • Kauff ND, Satagopan JM, Robson ME, et al: Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 346:1609-1615, 2002
    • (2002) N Engl J Med , vol.346 , pp. 1609-1615
    • Kauff, N.D.1    Satagopan, J.M.2    Robson, M.E.3
  • 32
    • 0034600109 scopus 로고    scopus 로고
    • Clinicopathologic features of BRCA-linked and sporadic ovarian cancer
    • Boyd J, Sonoda Y, Federici MG, et al: Clinicopathologic features of BRCA-linked and sporadic ovarian cancer. JAMA 283:2260-2265, 2000
    • (2000) JAMA , vol.283 , pp. 2260-2265
    • Boyd, J.1    Sonoda, Y.2    Federici, M.G.3
  • 33
    • 11144354423 scopus 로고    scopus 로고
    • Pathology of ovarian cancers in BRCA1 and BRCA2 carriers
    • Lakhani SR, Manek S, Penault-Llorca F, et al: Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin Cancer Res 10:2473-2481, 2004
    • (2004) Clin Cancer Res , vol.10 , pp. 2473-2481
    • Lakhani, S.R.1    Manek, S.2    Penault-Llorca, F.3
  • 34
    • 0642316760 scopus 로고    scopus 로고
    • Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations
    • Levine DA, Argenta PA, Yee CJ, et al: Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol 21:4222-4227, 2003
    • (2003) J Clin Oncol , vol.21 , pp. 4222-4227
    • Levine, D.A.1    Argenta, P.A.2    Yee, C.J.3
  • 35
    • 0037403380 scopus 로고    scopus 로고
    • Improved survival in women with BRCA-associated ovarian carcinoma
    • Cass I, Baldwin RL, Varkey T, et al: Improved survival in women with BRCA-associated ovarian carcinoma. Cancer 97:2187-2195, 2003
    • (2003) Cancer , vol.97 , pp. 2187-2195
    • Cass, I.1    Baldwin, R.L.2    Varkey, T.3
  • 36
    • 0028113345 scopus 로고
    • A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
    • Miki Y, Swensen J, Shattuck-Eidens D, et al: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71, 1994
    • (1994) Science , vol.266 , pp. 66-71
    • Miki, Y.1    Swensen, J.2    Shattuck-Eidens, D.3
  • 37
    • 0006713602 scopus 로고
    • Identification of the breast cancer susceptibility gene BRCA2
    • Wooster R, Bignell G, Lancaster J, et al: Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-792, 1995
    • (1995) Nature , vol.378 , pp. 789-792
    • Wooster, R.1    Bignell, G.2    Lancaster, J.3
  • 38
    • 18444364814 scopus 로고    scopus 로고
    • Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families
    • Kauff ND, Perez-Segura P, Robson ME, et al: Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. J Med Genet 39:611-614, 2002
    • (2002) J Med Genet , vol.39 , pp. 611-614
    • Kauff, N.D.1    Perez-Segura, P.2    Robson, M.E.3
  • 39
    • 0030956589 scopus 로고    scopus 로고
    • Study of a single BRCA2 mutation with high carrier frequency in a small population
    • Thorlacius S, Sigurdsson S, Bjarnadottir H, et al: Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet 60:1079-1084, 1997
    • (1997) Am J Hum Genet , vol.60 , pp. 1079-1084
    • Thorlacius, S.1    Sigurdsson, S.2    Bjarnadottir, H.3
  • 40
    • 0033799478 scopus 로고    scopus 로고
    • Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing
    • Unger MA, Nathanson KL, Calzone K, et al: Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet 67:841-850, 2000
    • (2000) Am J Hum Genet , vol.67 , pp. 841-850
    • Unger, M.A.1    Nathanson, K.L.2    Calzone, K.3
  • 41
    • 0037151382 scopus 로고    scopus 로고
    • On the use of familial aggregation in population-based case probands for calculating penetrance
    • Begg CB: On the use of familial aggregation in population-based case probands for calculating penetrance. J Natl Cancer Inst 94:1221-1226, 2002
    • (2002) J Natl Cancer Inst , vol.94 , pp. 1221-1226
    • Begg, C.B.1
  • 42
    • 0035098503 scopus 로고    scopus 로고
    • Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer
    • Risch HA, McLaughlin JR, Cole DE, et al: Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 68:700-710, 2001
    • (2001) Am J Hum Genet , vol.68 , pp. 700-710
    • Risch, H.A.1    McLaughlin, J.R.2    Cole, D.E.3
  • 43
    • 0035125062 scopus 로고    scopus 로고
    • Variation in cancer risks, by mutation position, in BRCA2 mutation carriers
    • Thompson D, Easton D: Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 68:410-419, 2001
    • (2001) Am J Hum Genet , vol.68 , pp. 410-419
    • Thompson, D.1    Easton, D.2
  • 44
    • 0142178215 scopus 로고    scopus 로고
    • Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    • King MC, Marks JH, Mandell JB: Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302:643-646, 2003
    • (2003) Science , vol.302 , pp. 643-646
    • King, M.C.1    Marks, J.H.2    Mandell, J.B.3
  • 45
    • 0033523268 scopus 로고    scopus 로고
    • Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium
    • Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 91:1310-1316, 1999
    • (1999) J Natl Cancer Inst , vol.91 , pp. 1310-1316
  • 46
    • 0035105291 scopus 로고    scopus 로고
    • Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway
    • Garcia-Higuera I, Taniguchi T, Ganesan S, et al: Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol Cell 7:249-262, 2001
    • (2001) Mol Cell , vol.7 , pp. 249-262
    • Garcia-Higuera, I.1    Taniguchi, T.2    Ganesan, S.3
  • 47
    • 18444362122 scopus 로고    scopus 로고
    • Biallelic inactivation of BRCA2 in Fanconi anemia
    • Howlett NG, Taniguchi T, Olson S, et al: Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297:606-609, 2002
    • (2002) Science , vol.297 , pp. 606-609
    • Howlett, N.G.1    Taniguchi, T.2    Olson, S.3
  • 48
    • 0142054687 scopus 로고    scopus 로고
    • Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia
    • Offit K, Levran O, Mullaney B, et al: Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. J Natl Cancer Inst 95:1548-1551, 2003
    • (2003) J Natl Cancer Inst , vol.95 , pp. 1548-1551
    • Offit, K.1    Levran, O.2    Mullaney, B.3
  • 49
    • 0030933762 scopus 로고    scopus 로고
    • Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking BRCA2
    • Sharan SK, Morimatsu M, Albrecht U, et al: Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking BRCA2. Nature 386:804-810, 1997
    • (1997) Nature , vol.386 , pp. 804-810
    • Sharan, S.K.1    Morimatsu, M.2    Albrecht, U.3
  • 50
    • 11144353924 scopus 로고    scopus 로고
    • Germline mutations in BRCA2: Shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia
    • Wagner JE, Tolar J, Levran O, et al: Germline mutations in BRCA2: Shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. Blood 103:3226-3229, 2004
    • (2004) Blood , vol.103 , pp. 3226-3229
    • Wagner, J.E.1    Tolar, J.2    Levran, O.3
  • 51
    • 0030893779 scopus 로고    scopus 로고
    • Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium
    • Burke W, DaIy M, Garber J, et al: Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA 277:997-1003, 1997
    • (1997) JAMA , vol.277 , pp. 997-1003
    • Burke, W.1    DaIy, M.2    Garber, J.3
  • 52
    • 0344978263 scopus 로고    scopus 로고
    • Surveillance of high risk women with proven or suspected familial (hereditary) breast cancer: First mid-term results of a multi-modality clinical screening trial
    • abstr 4
    • Kuhl CK, Schrading S, Leutner CC, et al: Surveillance of high risk women with proven or suspected familial (hereditary) breast cancer: First mid-term results of a multi-modality clinical screening trial. Proc Amer Soc Clin Oncol 22:2 2003 (abstr 4)
    • (2003) Proc Amer Soc Clin Oncol , vol.22 , pp. 2
    • Kuhl, C.K.1    Schrading, S.2    Leutner, C.C.3
  • 53
    • 3343014153 scopus 로고    scopus 로고
    • Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition
    • Kriege M, Brekelmans CT, Boetes C, et al: Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med 351:427-437, 2004
    • (2004) N Engl J Med , vol.351 , pp. 427-437
    • Kriege, M.1    Brekelmans, C.T.2    Boetes, C.3
  • 54
    • 4544230001 scopus 로고    scopus 로고
    • Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination
    • Warner E, Plewes DB, Hill KA, et al: Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 292:1317-1325, 2004
    • (2004) JAMA , vol.292 , pp. 1317-1325
    • Warner, E.1    Plewes, D.B.2    Hill, K.A.3
  • 55
    • 4544261969 scopus 로고    scopus 로고
    • Breast MRI for women with hereditary cancer risk
    • Robson ME, Offit K: Breast MRI for women with hereditary cancer risk. JAMA 292:1368-1370, 2004
    • (2004) JAMA , vol.292 , pp. 1368-1370
    • Robson, M.E.1    Offit, K.2
  • 56
    • 0026052709 scopus 로고
    • Primary breast cancer after prophylactic mastectomy
    • Ziegler LD, Kroll SS: Primary breast cancer after prophylactic mastectomy. Am J Clin Oncol 14:451-454, 1991
    • (1991) Am J Clin Oncol , vol.14 , pp. 451-454
    • Ziegler, L.D.1    Kroll, S.S.2
  • 57
    • 0035824069 scopus 로고    scopus 로고
    • Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers
    • Hartmann LC, Sellers TA, Schaid DJ, et al: Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst 93:1633-1637, 2001
    • (2001) J Natl Cancer Inst , vol.93 , pp. 1633-1637
    • Hartmann, L.C.1    Sellers, T.A.2    Schaid, D.J.3
  • 58
    • 0035913275 scopus 로고    scopus 로고
    • Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation
    • Meijers-Heijboer H, van Geel B, van Putten WL, et al: Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 345:159-164, 2001
    • (2001) N Engl J Med , vol.345 , pp. 159-164
    • Meijers-Heijboer, H.1    van Geel, B.2    van Putten, W.L.3
  • 59
    • 0032508293 scopus 로고    scopus 로고
    • Prevention of breast cancer with tamoxifen: Preliminary findings from the Italian randomised trial among hysterectomised women. Italian Tamoxifen Prevention Study
    • Veronesi U, Maisonneuve P, Costa A, et al: Prevention of breast cancer with tamoxifen: Preliminary findings from the Italian randomised trial among hysterectomised women. Italian Tamoxifen Prevention Study. Lancet 352:93-97, 1998
    • (1998) Lancet , vol.352 , pp. 93-97
    • Veronesi, U.1    Maisonneuve, P.2    Costa, A.3
  • 60
    • 0034331054 scopus 로고    scopus 로고
    • Chemoprevention options for BRCA1 and BRCA2 mutation carriers
    • Eeles RA, Powles TJ: Chemoprevention options for BRCA1 and BRCA2 mutation carriers. J Clin Oncol 18:93S-99S, 2000
    • (2000) J Clin Oncol , vol.18
    • Eeles, R.A.1    Powles, T.J.2
  • 61
    • 0034597916 scopus 로고    scopus 로고
    • Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: A case-control study. Hereditary Breast Cancer Clinical Study Group
    • Narod SA, Brunet JS, Ghadirian P, et al: Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: A case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet 356:1876-1881, 2000
    • (2000) Lancet , vol.356 , pp. 1876-1881
    • Narod, S.A.1    Brunet, J.S.2    Ghadirian, P.3
  • 62
    • 0028232619 scopus 로고
    • Screening for ovarian cancer: Recommendations and rationale
    • American CoP
    • American CoP: Screening for ovarian cancer: Recommendations and rationale. Ann Intern Med 121:141-142, 1994
    • (1994) Ann Intern Med , vol.121 , pp. 141-142
  • 63
    • 0020033017 scopus 로고
    • Surveillance and management of patients at high genetic risk for ovarian carcinoma
    • Lynch HT, Albano WA, Lynch JF, et al: Surveillance and management of patients at high genetic risk for ovarian carcinoma. Obstet Gynecol 59:589-596, 1982
    • (1982) Obstet Gynecol , vol.59 , pp. 589-596
    • Lynch, H.T.1    Albano, W.A.2    Lynch, J.F.3
  • 64
    • 0029441577 scopus 로고
    • Prophylactic oophorectomy in inherited breast/ ovarian cancer families
    • Struewing JP, Watson P, Easton DF, et al: Prophylactic oophorectomy in inherited breast/ ovarian cancer families. J Natl Cancer Inst Monogr 17:33-35, 1995
    • (1995) J Natl Cancer Inst Monogr , vol.17 , pp. 33-35
    • Struewing, J.P.1    Watson, P.2    Easton, D.F.3
  • 65
    • 0035954651 scopus 로고    scopus 로고
    • Parity, oral contraceptives, and the risk of ovarian cancer among carriers and noncarriers of a BRCA1 or BRCA2 mutation
    • Modan B, Hartge P, Hirsh-Yechezkel G, et al: Parity, oral contraceptives, and the risk of ovarian cancer among carriers and noncarriers of a BRCA1 or BRCA2 mutation. N Engl J Med 345:235-240, 2001
    • (2001) N Engl J Med , vol.345 , pp. 235-240
    • Modan, B.1    Hartge, P.2    Hirsh-Yechezkel, G.3
  • 66
    • 0032514413 scopus 로고    scopus 로고
    • Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group
    • Narod SA, Risch H, Moslehi R, et al: Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med 339:424-428, 1998
    • (1998) N Engl J Med , vol.339 , pp. 424-428
    • Narod, S.A.1    Risch, H.2    Moslehi, R.3
  • 67
    • 0037021659 scopus 로고    scopus 로고
    • Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    • Narod SA, Dube MP, Klijn J, et al: Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 94:1773-1779, 2002
    • (2002) J Natl Cancer Inst , vol.94 , pp. 1773-1779
    • Narod, S.A.1    Dube, M.P.2    Klijn, J.3
  • 68
    • 0014587529 scopus 로고
    • Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?
    • Li FP, Fraumeni JF, Jr.: Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 71:747-752, 1969
    • (1969) Ann Intern Med , vol.71 , pp. 747-752
    • Li, F.P.1    Fraumeni Jr., J.F.2
  • 69
    • 0023715595 scopus 로고
    • A cancer family syndrome in twenty-four kindreds
    • Li FP, Fraumeni JF, Jr., Mulvihili JJ, et al: A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358-5362, 1988
    • (1988) Cancer Res , vol.48 , pp. 5358-5362
    • Li, F.P.1    Fraumeni Jr., J.F.2    Mulvihili, J.J.3
  • 70
    • 0035117108 scopus 로고    scopus 로고
    • Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers
    • Nichols KE, Malkin D, Garber JE, et al: Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol Biomarkers Prev 10:83-87, 2001
    • (2001) Cancer Epidemiol Biomarkers Prev , vol.10 , pp. 83-87
    • Nichols, K.E.1    Malkin, D.2    Garber, J.E.3
  • 71
    • 0037271889 scopus 로고    scopus 로고
    • General keynote: Hereditary cancer: Lessons from Li-Fraumeni syndrome
    • Strong LC: General keynote: Hereditary cancer: Lessons from Li-Fraumeni syndrome. Gynecol Oncol 88:34-7, 2003
    • (2003) Gynecol Oncol , vol.88 , pp. 34-37
    • Strong, L.C.1
  • 72
    • 0037222381 scopus 로고    scopus 로고
    • Germline TP53 mutations and Li-Fraumeni syndrome
    • Varley JM: Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 21:313-320, 2003
    • (2003) Hum Mutat , vol.21 , pp. 313-320
    • Varley, J.M.1
  • 73
    • 0032480248 scopus 로고    scopus 로고
    • Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome
    • Birch JM, Blair V, Kelsey AM, et al: Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. Oncogene 17:1061-1068, 1998
    • (1998) Oncogene , vol.17 , pp. 1061-1068
    • Birch, J.M.1    Blair, V.2    Kelsey, A.M.3
  • 74
    • 0037471838 scopus 로고    scopus 로고
    • Prediction of pathogenic mutations in patients with early-onset breast cancer by family history
    • Lalloo F, Varley J, Ellis D, et al: Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet 361:1101-1102, 2003
    • (2003) Lancet , vol.361 , pp. 1101-1102
    • Lalloo, F.1    Varley, J.2    Ellis, D.3
  • 75
    • 0026525839 scopus 로고
    • Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma
    • Toguchida J, Yamaguchi T, Dayton SH, et al: Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. N Engl J Med 326:1301-1308, 1992
    • (1992) N Engl J Med , vol.326 , pp. 1301-1308
    • Toguchida, J.1    Yamaguchi, T.2    Dayton, S.H.3
  • 76
    • 0033601346 scopus 로고    scopus 로고
    • Heterozygous germ line hCHK2 mutations in LiFraumeni syndrome
    • Bell DW, Varley JM, Szydlo TE, et al: Heterozygous germ line hCHK2 mutations in LiFraumeni syndrome. Science 286:2528-2531, 1999
    • (1999) Science , vol.286 , pp. 2528-2531
    • Bell, D.W.1    Varley, J.M.2    Szydlo, T.E.3
  • 77
    • 0038051815 scopus 로고    scopus 로고
    • TP53, hChk2, and the Li-Fraumeni syndrome
    • Varley J: TP53, hChk2, and the Li-Fraumeni syndrome. Methods Mol Biol 222:117-129, 2003
    • (2003) Methods Mol Biol , vol.222 , pp. 117-129
    • Varley, J.1
  • 78
    • 0033738748 scopus 로고    scopus 로고
    • Will the real Cowden syndrome please stand up: Revised diagnostic criteria
    • Eng C: Will the real Cowden syndrome please stand up: Revised diagnostic criteria. J Med Genet 37:828-830, 2000
    • (2000) J Med Genet , vol.37 , pp. 828-830
    • Eng, C.1
  • 79
    • 0035088435 scopus 로고    scopus 로고
    • Male breast cancer in Cowden syndrome patients with germline PTEN mutations
    • Fackenthal JD, Marsh DJ, Richardson AL, et al: Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet 38:159-164, 2001
    • (2001) J Med Genet , vol.38 , pp. 159-164
    • Fackenthal, J.D.1    Marsh, D.J.2    Richardson, A.L.3
  • 80
    • 0030936323 scopus 로고    scopus 로고
    • PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer
    • Li J, Yen C, Liaw D, et al: PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 275:1943-1947, 1997
    • (1997) Science , vol.275 , pp. 1943-1947
    • Li, J.1    Yen, C.2    Liaw, D.3
  • 81
    • 0036299115 scopus 로고    scopus 로고
    • Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesis
    • Eng C: Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesis. Ann N Y Acad Sci 968:213-221, 2002
    • (2002) Ann N Y Acad Sci , vol.968 , pp. 213-221
    • Eng, C.1
  • 82
    • 0032853452 scopus 로고    scopus 로고
    • PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
    • Marsh DJ, Kum JB, Lunetta KL, et al: PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 8:1461-1472, 1999
    • (1999) Hum Mol Genet , vol.8 , pp. 1461-1472
    • Marsh, D.J.1    Kum, J.B.2    Lunetta, K.L.3
  • 84
    • 0022997995 scopus 로고
    • Cowden disease. A hereditary polyposis syndrome diagnosable by mucocutaneous inspection
    • Hover AR, Cawthern T, McDanial W: Cowden disease. A hereditary polyposis syndrome diagnosable by mucocutaneous inspection. J Clin Gastroenterol 8:576-579, 1986
    • (1986) J Clin Gastroenterol , vol.8 , pp. 576-579
    • Hover, A.R.1    Cawthern, T.2    McDanial, W.3
  • 86
    • 4143082647 scopus 로고    scopus 로고
    • Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis
    • Burt RW, Leppert MF, Slattery ML, et al: Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology 127:444-451, 2004
    • (2004) Gastroenterology , vol.127 , pp. 444-451
    • Burt, R.W.1    Leppert, M.F.2    Slattery, M.L.3
  • 87
    • 0025817880 scopus 로고
    • Identification of FAP locus genes from chromosome 5q21
    • Kinzler KW, Nilbert MC, Su LK, et al: Identification of FAP locus genes from chromosome 5q21. Science 253:661-665, 1991
    • (1991) Science , vol.253 , pp. 661-665
    • Kinzler, K.W.1    Nilbert, M.C.2    Su, L.K.3
  • 88
    • 0037797281 scopus 로고    scopus 로고
    • Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis
    • Bertario L, Russo A, Sala P, et al: Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. J Clin Oncol 21:1698-1707, 2003
    • (2003) J Clin Oncol , vol.21 , pp. 1698-1707
    • Bertario, L.1    Russo, A.2    Sala, P.3
  • 89
    • 0027724691 scopus 로고
    • Alleles of the APC gene: An attenuated form of familial polyposis
    • Spirio L, Olschwang S, Groden J, et al: Alleles of the APC gene: An attenuated form of familial polyposis. Cell 75:951-957, 1993
    • (1993) Cell , vol.75 , pp. 951-957
    • Spirio, L.1    Olschwang, S.2    Groden, J.3
  • 90
    • 0037468517 scopus 로고    scopus 로고
    • Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH
    • Sieber OM, Lipton L, Crabtree M, et al: Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 348:791-799, 2003
    • (2003) N Engl J Med , vol.348 , pp. 791-799
    • Sieber, O.M.1    Lipton, L.2    Crabtree, M.3
  • 91
    • 16944365288 scopus 로고    scopus 로고
    • Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC
    • Laken SJ, Petersen GM, Gruber SB, et al: Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 17:79-83, 1997
    • (1997) Nat Genet , vol.17 , pp. 79-83
    • Laken, S.J.1    Petersen, G.M.2    Gruber, S.B.3
  • 92
    • 0034675060 scopus 로고    scopus 로고
    • Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps
    • Syngal S, Schrag D, Falchuk M, et al: Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps. JAMA 284:857-860, 2000
    • (2000) JAMA , vol.284 , pp. 857-860
    • Syngal, S.1    Schrag, D.2    Falchuk, M.3
  • 93
    • 0033971801 scopus 로고    scopus 로고
    • Care of patients and their families with familial adenomatous polyposis
    • King JE, Dozois RR, Lindor NM, et al: Care of patients and their families with familial adenomatous polyposis. Mayo Clin Proc 75:57-67, 2000
    • (2000) Mayo Clin Proc , vol.75 , pp. 57-67
    • King, J.E.1    Dozois, R.R.2    Lindor, N.M.3
  • 94
    • 0036141958 scopus 로고    scopus 로고
    • Attenuated familial adenomatous polyposis: An evolving and poorly understood entity
    • Hernegger GS, Moore HG, Guillem JG: Attenuated familial adenomatous polyposis: An evolving and poorly understood entity. Dis Colon Rectum 45:127-136, 2002
    • (2002) Dis Colon Rectum , vol.45 , pp. 127-136
    • Hernegger, G.S.1    Moore, H.G.2    Guillem, J.G.3
  • 95
    • 0033843684 scopus 로고    scopus 로고
    • Hereditary colorectal cancer: Risk assessment and management
    • Hampel H, Peltomaki P: Hereditary colorectal cancer: risk assessment and management. Clin Genet 58:89-97, 2000
    • (2000) Clin Genet , vol.58 , pp. 89-97
    • Hampel, H.1    Peltomaki, P.2
  • 96
    • 0037018508 scopus 로고    scopus 로고
    • Primary chemoprevention of familial adenomatous polyposis with sulindac
    • Giardiello FM, Yang VW, Hylind LM, et al: Primary chemoprevention of familial adenomatous polyposis with sulindac. N Engl J Med 346:1054-1059, 2002
    • (2002) N Engl J Med , vol.346 , pp. 1054-1059
    • Giardiello, F.M.1    Yang, V.W.2    Hylind, L.M.3
  • 97
    • 0035115460 scopus 로고    scopus 로고
    • Familial adenomatous polyposis: Prevalence of adenomas in the ileal pouch after restorative proctocolectomy
    • Parc YR, Olschwang S, Desaint B, et al: Familial adenomatous polyposis: Prevalence of adenomas in the ileal pouch after restorative proctocolectomy. Ann Surg 233:360-364, 2001
    • (2001) Ann Surg , vol.233 , pp. 360-364
    • Parc, Y.R.1    Olschwang, S.2    Desaint, B.3
  • 98
    • 0036114348 scopus 로고    scopus 로고
    • A randomised, double blind, placebo controlled study of celecoxib, a selective cyclooxygenase 2 inhibitor, on duodenal polyposis in familial adenomatous polyposis
    • Phillips RK, Wallace MH, Lynch PM, et al: A randomised, double blind, placebo controlled study of celecoxib, a selective cyclooxygenase 2 inhibitor, on duodenal polyposis in familial adenomatous polyposis. Gut 50:857-860, 2002
    • (2002) Gut , vol.50 , pp. 857-860
    • Phillips, R.K.1    Wallace, M.H.2    Lynch, P.M.3
  • 100
    • 0027467494 scopus 로고
    • Extracolonic cancer in hereditary nonpolyposis colorectal cancer
    • Watson P, Lynch HT: Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71:677-685, 1993
    • (1993) Cancer , vol.71 , pp. 677-685
    • Watson, P.1    Lynch, H.T.2
  • 101
    • 0022642727 scopus 로고
    • Segregation analysis of hereditary nonpolyposis colorectal cancer
    • Bailey-Wilson JE, Elston RC, Schuelke GS, et al: Segregation analysis of hereditary nonpolyposis colorectal cancer. Genet Epidemiol 3:27-38, 1986
    • (1986) Genet Epidemiol , vol.3 , pp. 27-38
    • Bailey-Wilson, J.E.1    Elston, R.C.2    Schuelke, G.S.3
  • 102
    • 0027965893 scopus 로고
    • Clinical heterogeneity of familial colorectal cancer and its influence on screening protocols
    • Vasen HF, Taal BG, Griffioen G, et al: Clinical heterogeneity of familial colorectal cancer and its influence on screening protocols. Gut 35:1262-1266, 1994
    • (1994) Gut , vol.35 , pp. 1262-1266
    • Vasen, H.F.1    Taal, B.G.2    Griffioen, G.3
  • 103
    • 0032941343 scopus 로고    scopus 로고
    • Cancer risk in mutation carriers of DNA-mismatch-repair genes
    • Aarnio M, Sankila R, Pukkala E, et al: Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81:214-218, 1999
    • (1999) Int J Cancer , vol.81 , pp. 214-218
    • Aarnio, M.1    Sankila, R.2    Pukkala, E.3
  • 104
    • 0033063711 scopus 로고    scopus 로고
    • New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC
    • Vasen HF, Watson P, Mecklin JP, et al: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116:1453-1456, 1999
    • (1999) Gastroenterology , vol.116 , pp. 1453-1456
    • Vasen, H.F.1    Watson, P.2    Mecklin, J.P.3
  • 105
    • 0031551963 scopus 로고    scopus 로고
    • A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting highlights and Bethesda guidelines
    • Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al: A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89:1758-1762, 1997
    • (1997) J Natl Cancer Inst , vol.89 , pp. 1758-1762
    • Rodriguez-Bigas, M.A.1    Boland, C.R.2    Hamilton, S.R.3
  • 106
    • 10744233937 scopus 로고    scopus 로고
    • Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    • Umar A, Boland CR, Terdiman JP, et al: Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261-268, 2004
    • (2004) J Natl Cancer Inst , vol.96 , pp. 261-268
    • Umar, A.1    Boland, C.R.2    Terdiman, J.P.3
  • 107
    • 0027145633 scopus 로고
    • Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
    • Leach FS, Nicolaides NC, Papadopoulos N, et al: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75:1215-1225, 1993
    • (1993) Cell , vol.75 , pp. 1215-1225
    • Leach, F.S.1    Nicolaides, N.C.2    Papadopoulos, N.3
  • 108
    • 0027742295 scopus 로고
    • The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
    • Fishel R, Lescoe MK, Rao MR, et al: The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75:1027-1038, 1993
    • (1993) Cell , vol.75 , pp. 1027-1038
    • Fishel, R.1    Lescoe, M.K.2    Rao, M.R.3
  • 109
    • 0028221943 scopus 로고
    • Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer
    • Bronner CE, Baker SM, Morrison PT, et al: Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368:258-261, 1994
    • (1994) Nature , vol.368 , pp. 258-261
    • Bronner, C.E.1    Baker, S.M.2    Morrison, P.T.3
  • 110
    • 2942569549 scopus 로고    scopus 로고
    • Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients
    • Liu B, Parsons R, Papadopoulos N, et al: Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 2:169-174, 1996
    • (1996) Nat Med , vol.2 , pp. 169-174
    • Liu, B.1    Parsons, R.2    Papadopoulos, N.3
  • 111
    • 0032552239 scopus 로고    scopus 로고
    • Clinical findings with implications for genetic testing in families with clustering of colorectal cancer
    • Wijnen JT, Vasen HF, Khan PM, et al: Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 339:511-518, 1998
    • (1998) N Engl J Med , vol.339 , pp. 511-518
    • Wijnen, J.T.1    Vasen, H.F.2    Khan, P.M.3
  • 112
    • 0035503698 scopus 로고    scopus 로고
    • The role of hPMS1 and hPMS2 in predisposing to colorectal cancer
    • Liu T, Yan H, Kuismanen S, et al: The role of hPMS1 and hPMS2 in predisposing to colorectal cancer. Cancer Res 61:7798-7802, 2001
    • (2001) Cancer Res , vol.61 , pp. 7798-7802
    • Liu, T.1    Yan, H.2    Kuismanen, S.3
  • 113
    • 16544373789 scopus 로고    scopus 로고
    • MSH6 mutations in hereditary nonpolyposis colon cancer: Another slice of the pie
    • Offit K: MSH6 mutations in hereditary nonpolyposis colon cancer: Another slice of the pie. J Clin Oncol 22:4449-4451, 2004
    • (2004) J Clin Oncol , vol.22 , pp. 4449-4451
    • Offit, K.1
  • 114
    • 0032534069 scopus 로고    scopus 로고
    • A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer
    • Boland CR, Thibodeau SN, Hamilton SR, et al: A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58:5248-5257, 1998
    • (1998) Cancer Res , vol.58 , pp. 5248-5257
    • Boland, C.R.1    Thibodeau, S.N.2    Hamilton, S.R.3
  • 115
    • 0027158031 scopus 로고
    • Clues to the pathogenesis of familial colorectal cancer
    • Aaltonen LA, Peltomaki P, Leach FS, et al: Clues to the pathogenesis of familial colorectal cancer. Science 260:812-816, 1993
    • (1993) Science , vol.260 , pp. 812-816
    • Aaltonen, L.A.1    Peltomaki, P.2    Leach, F.S.3
  • 116
    • 0027314411 scopus 로고
    • Microsatellite instability in cancer of the proximal colon
    • Thibodeau SN, Bren G, Schaid D: Microsatellite instability in cancer of the proximal colon. Science 260:816-819, 1993
    • (1993) Science , vol.260 , pp. 816-819
    • Thibodeau, S.N.1    Bren, G.2    Schaid, D.3
  • 117
    • 0037083484 scopus 로고    scopus 로고
    • Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors
    • Lindor NM, Burgart LJ, Leontovich O, et al: Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 20:1043-1048, 2002
    • (2002) J Clin Oncol , vol.20 , pp. 1043-1048
    • Lindor, N.M.1    Burgart, L.J.2    Leontovich, O.3
  • 118
    • 0032146118 scopus 로고    scopus 로고
    • Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability
    • Cunningham JM, Christensen ER, Tester DJ, et al: Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res 58:3455-3460, 1998
    • (1998) Cancer Res , vol.58 , pp. 3455-3460
    • Cunningham, J.M.1    Christensen, E.R.2    Tester, D.J.3
  • 119
    • 0034827025 scopus 로고    scopus 로고
    • The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas
    • Cunningham JM, Kim CY, Christensen ER, et al: The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet 69:780-790, 2001
    • (2001) Am J Hum Genet , vol.69 , pp. 780-790
    • Cunningham, J.M.1    Kim, C.Y.2    Christensen, E.R.3
  • 120
    • 0028900589 scopus 로고
    • Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer
    • Jarvinen HJ, Mecklin JP, Sistonen P: Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 108:1405-1411, 1995
    • (1995) Gastroenterology , vol.108 , pp. 1405-1411
    • Jarvinen, H.J.1    Mecklin, J.P.2    Sistonen, P.3
  • 121
    • 0034011564 scopus 로고    scopus 로고
    • Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer
    • Jarvinen HJ, Aarnio M, Mustonen H, et al: Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 118:829-834, 2000
    • (2000) Gastroenterology , vol.118 , pp. 829-834
    • Jarvinen, H.J.1    Aarnio, M.2    Mustonen, H.3
  • 122
    • 0029005780 scopus 로고
    • Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome)
    • Vasen HF, Nagengast FM, Khan PM: Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome). Lancet 345:1183-1184, 1995
    • (1995) Lancet , vol.345 , pp. 1183-1184
    • Vasen, H.F.1    Nagengast, F.M.2    Khan, P.M.3
  • 124
    • 0029682806 scopus 로고    scopus 로고
    • Prophylactic colectomy for gene carriers in hereditary nonpolyposis colorectal cancer. Has the time come?
    • Rodriguez-Bigas MA: Prophylactic colectomy for gene carriers in hereditary nonpolyposis colorectal cancer. Has the time come? Cancer 78:199-201, 1996
    • (1996) Cancer , vol.78 , pp. 199-201
    • Rodriguez-Bigas, M.A.1
  • 125
    • 0035292551 scopus 로고    scopus 로고
    • COX-2 inhibition in clinical cancer prevention
    • Lynch PM: COX-2 inhibition in clinical cancer prevention. Oncology (Huntingt) 15:21-26, 2001
    • (2001) Oncology (Huntingt) , vol.15 , pp. 21-26
    • Lynch, P.M.1
  • 126
    • 0034955851 scopus 로고    scopus 로고
    • AGA technical review on hereditary colorectal cancer and genetic testing
    • Giardiello FM, Brensinger JD, Petersen GM: AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology 121:198-213, 2001
    • (2001) Gastroenterology , vol.121 , pp. 198-213
    • Giardiello, F.M.1    Brensinger, J.D.2    Petersen, G.M.3
  • 128
    • 8044220285 scopus 로고    scopus 로고
    • Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium
    • Burke W, Petersen G, Lynch P, et al: Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium. JAMA 277:915-919, 1997
    • (1997) JAMA , vol.277 , pp. 915-919
    • Burke, W.1    Petersen, G.2    Lynch, P.3
  • 129
    • 2442698759 scopus 로고    scopus 로고
    • Hereditary diffuse gastric cancer: Predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone
    • Charlton A, Blair V, Shaw D, et al: Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone. Gut 53:814-820, 2004
    • (2004) Gut , vol.53 , pp. 814-820
    • Charlton, A.1    Blair, V.2    Shaw, D.3
  • 130
    • 0032865483 scopus 로고    scopus 로고
    • E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer
    • Guilford PJ, Hopkins JB, Grady WM, et al: E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum Mutat 14:249-255, 1999
    • (1999) Hum Mutat , vol.14 , pp. 249-255
    • Guilford, P.J.1    Hopkins, J.B.2    Grady, W.M.3
  • 131
    • 0348229127 scopus 로고    scopus 로고
    • The role of the E-cadherin gene (CDH1) in diffuse gastric cancer susceptibility: From the laboratory to clinical practice
    • Graziano F, Humar B, Guilford P: The role of the E-cadherin gene (CDH1) in diffuse gastric cancer susceptibility: from the laboratory to clinical practice. Ann Oncol 14:1705-1713, 2003
    • (2003) Ann Oncol , vol.14 , pp. 1705-1713
    • Graziano, F.1    Humar, B.2    Guilford, P.3
  • 132
    • 3142695439 scopus 로고    scopus 로고
    • Germline E-cadherin mutations in hereditary diffuse gastric cancer: Assessment of 42 new families and review of genetic screening criteria
    • Brooks-Wilson AR, Kaurah P, Suriano G, et al: Germline E-cadherin mutations in hereditary diffuse gastric cancer: Assessment of 42 new families and review of genetic screening criteria. J Med Genet 41:508-517, 2004
    • (2004) J Med Genet , vol.41 , pp. 508-517
    • Brooks-Wilson, A.R.1    Kaurah, P.2    Suriano, G.3
  • 133
    • 0035395151 scopus 로고    scopus 로고
    • Germline E-cadherin gene mutations: Is prophylactic total gastrectomy indicated?
    • Chun YS, Lindor NM, Smyrk TC, et al: Germline E-cadherin gene mutations: Is prophylactic total gastrectomy indicated? Cancer 92:181-187, 2001
    • (2001) Cancer , vol.92 , pp. 181-187
    • Chun, Y.S.1    Lindor, N.M.2    Smyrk, T.C.3
  • 134
    • 0035927967 scopus 로고    scopus 로고
    • Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations
    • Huntsman DG, Carneiro F, Lewis FR, et al: Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. N Engl J Med 344:1904-1909, 2001
    • (2001) N Engl J Med , vol.344 , pp. 1904-1909
    • Huntsman, D.G.1    Carneiro, F.2    Lewis, F.R.3
  • 135
    • 0036511138 scopus 로고    scopus 로고
    • Hereditary diffuse gastric cancer: More answers or more questions?
    • Grady WM, Peek RM Jr: Hereditary diffuse gastric cancer: More answers or more questions? Gastroenterology 122:830-832, 2002
    • (2002) Gastroenterology , vol.122 , pp. 830-832
    • Grady, W.M.1    Peek Jr, R.M.2
  • 136
    • 0035927966 scopus 로고    scopus 로고
    • The power of genetics to target surgical prevention
    • Weitzel JN, McCahill LE: The power of genetics to target surgical prevention. N Engl J Med 344:1942-1944, 2001
    • (2001) N Engl J Med , vol.344 , pp. 1942-1944
    • Weitzel, J.N.1    McCahill, L.E.2
  • 137
    • 11144353646 scopus 로고    scopus 로고
    • Prospective risk of pancreatic cancer in familial pancreatic cancer kindreds
    • Klein AP, Brune KA, Petersen GM, et al: Prospective risk of pancreatic cancer in familial pancreatic cancer kindreds. Cancer Res 64:2634-2638, 2004
    • (2004) Cancer Res , vol.64 , pp. 2634-2638
    • Klein, A.P.1    Brune, K.A.2    Petersen, G.M.3
  • 138
    • 0036668721 scopus 로고    scopus 로고
    • Evidence for a major gene influencing risk of pancreatic cancer
    • Klein AP, Beaty TH, Bailey-Wilson JE, et al: Evidence for a major gene influencing risk of pancreatic cancer. Genet Epidemiol 23:133-149, 2002
    • (2002) Genet Epidemiol , vol.23 , pp. 133-149
    • Klein, A.P.1    Beaty, T.H.2    Bailey-Wilson, J.E.3
  • 139
    • 0033836334 scopus 로고    scopus 로고
    • Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden)
    • Vasen HF, Gruis NA, Frants RR, et al: Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer 87:809-811, 2000
    • (2000) Int J Cancer , vol.87 , pp. 809-811
    • Vasen, H.F.1    Gruis, N.A.2    Frants, R.R.3
  • 140
    • 0036644884 scopus 로고    scopus 로고
    • Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: Deleterious BRCA2 mutations in 17%
    • Murphy KM, Brune KA, Griffin C, et al: Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%. Cancer Res 62:3789-3793, 2002
    • (2002) Cancer Res , vol.62 , pp. 3789-3793
    • Murphy, K.M.1    Brune, K.A.2    Griffin, C.3
  • 141
    • 0037420026 scopus 로고    scopus 로고
    • BRCA2 germline mutations in familial pancreatic carcinoma
    • Hahn SA, Greenhalf B, Ellis I, et al: BRCA2 germline mutations in familial pancreatic carcinoma. J Natl Cancer Inst 95:214-221, 2003
    • (2003) J Natl Cancer Inst , vol.95 , pp. 214-221
    • Hahn, S.A.1    Greenhalf, B.2    Ellis, I.3
  • 142
    • 0034650411 scopus 로고    scopus 로고
    • Inherited predisposition to pancreatic adenocarcinoma: Role of family history and germ-line p16, BRCA1, and BRCA2 mutations
    • Lal G, Liu G, Schmocker B, et al: Inherited predisposition to pancreatic adenocarcinoma: Role of family history and germ-line p16, BRCA1, and BRCA2 mutations. Cancer Res 60:409-416, 2000
    • (2000) Cancer Res , vol.60 , pp. 409-416
    • Lal, G.1    Liu, G.2    Schmocker, B.3
  • 143
    • 18344363182 scopus 로고    scopus 로고
    • A new susceptibility locus for autosomal dominant pancreatic cancer maps to chromosome 4q32-34
    • Eberle MA, Pfutzer R, Pogue-Geile KL, et al: A new susceptibility locus for autosomal dominant pancreatic cancer maps to chromosome 4q32-34. Am J Hum Genet 70:1044-1048, 2002
    • (2002) Am J Hum Genet , vol.70 , pp. 1044-1048
    • Eberle, M.A.1    Pfutzer, R.2    Pogue-Geile, K.L.3
  • 144
    • 0037420023 scopus 로고    scopus 로고
    • Familial pancreatic cancer: Where are we in 2003?
    • Petersen GM, Hruban RH: Familial pancreatic cancer: Where are we in 2003? J Natl Cancer Inst 95:180-181, 2003
    • (2003) J Natl Cancer Inst , vol.95 , pp. 180-181
    • Petersen, G.M.1    Hruban, R.H.2
  • 145
    • 0037505830 scopus 로고    scopus 로고
    • Fanconi anemia gene mutations in young-onset pancreatic cancer
    • van der Heijden MS, Yeo CJ, Hruban RH, et al: Fanconi anemia gene mutations in young-onset pancreatic cancer. Cancer Res 63:2585-2588, 2003
    • (2003) Cancer Res , vol.63 , pp. 2585-2588
    • van der Heijden, M.S.1    Yeo, C.J.2    Hruban, R.H.3
  • 146
    • 0037441757 scopus 로고    scopus 로고
    • A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
    • Kutler DI, Singh B, Sstagopan J, et al: A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood 101:1249-1256, 2003
    • (2003) Blood , vol.101 , pp. 1249-1256
    • Kutler, D.I.1    Singh, B.2    Sstagopan, J.3
  • 148
    • 84943673376 scopus 로고
    • Precursor lesions in familial melanoma. A new genetic preneoplastic syndrome
    • Reimer RR, Clark WH, Jr., Greene MH, et al: Precursor lesions in familial melanoma. A new genetic preneoplastic syndrome. JAMA 239:744-746, 1978
    • (1978) JAMA , vol.239 , pp. 744-746
    • Reimer, R.R.1    Clark Jr., W.H.2    Greene, M.H.3
  • 149
    • 0021998647 scopus 로고
    • Acquired precursors of cutaneous malignant melanoma. The familial dysplastic nevus syndrome
    • Greene MH, Clark WH, Jr., Tucker MA, et al: Acquired precursors of cutaneous malignant melanoma. The familial dysplastic nevus syndrome. N Engl J Med 312:91-97, 1985
    • (1985) N Engl J Med , vol.312 , pp. 91-97
    • Greene, M.H.1    Clark Jr., W.H.2    Tucker, M.A.3
  • 150
    • 0024320151 scopus 로고
    • Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p
    • Bale SJ, Dracopoli NC, Tucker MA, et al: Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p. N Engl J Med 320:1367-1372, 1989
    • (1989) N Engl J Med , vol.320 , pp. 1367-1372
    • Bale, S.J.1    Dracopoli, N.C.2    Tucker, M.A.3
  • 151
    • 0027370901 scopus 로고
    • Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/ DN) on chromosome 1p, and evidence for genetic heterogeneity
    • Goldstein AM, Dracopoli NC, Ho EC, et al: Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/ DN) on chromosome 1p, and evidence for genetic heterogeneity. Am J Hum Genet 52:537-550, 1993
    • (1993) Am J Hum Genet , vol.52 , pp. 537-550
    • Goldstein, A.M.1    Dracopoli, N.C.2    Ho, E.C.3
  • 152
    • 0026471719 scopus 로고
    • Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22
    • Cannon-Albright LA, Goldgar DE, Meyer LJ, et al: Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science 258:1148-1152, 1992
    • (1992) Science , vol.258 , pp. 1148-1152
    • Cannon-Albright, L.A.1    Goldgar, D.E.2    Meyer, L.J.3
  • 153
    • 0028172648 scopus 로고
    • Penetrance and expressivity of the chromosome 9p melanoma susceptibility locus (MLM)
    • Cannon-Albright LA, Meyer LJ, Goldgar DE, et al: Penetrance and expressivity of the chromosome 9p melanoma susceptibility locus (MLM). Cancer Res 54:6041-6044, 1994
    • (1994) Cancer Res , vol.54 , pp. 6041-6044
    • Cannon-Albright, L.A.1    Meyer, L.J.2    Goldgar, D.E.3
  • 154
    • 0028085975 scopus 로고
    • Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus
    • Kamb A, Shattuck-Eidens D, Eeles R, et al: Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet 8:23-26, 1994
    • (1994) Nat Genet , vol.8 , pp. 23-26
    • Kamb, A.1    Shattuck-Eidens, D.2    Eeles, R.3
  • 155
    • 0029664339 scopus 로고    scopus 로고
    • Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma
    • Zuo L, Weger J, Yang Q, et al: Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nat Genet 12:97-99, 1996
    • (1996) Nat Genet , vol.12 , pp. 97-99
    • Zuo, L.1    Weger, J.2    Yang, Q.3
  • 156
    • 0029129816 scopus 로고
    • Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations
    • Goldstein AM, Fraser MC, Struewing JP, et al: Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N Engl J Med 333:970-974, 1995
    • (1995) N Engl J Med , vol.333 , pp. 970-974
    • Goldstein, A.M.1    Fraser, M.C.2    Struewing, J.P.3
  • 157
    • 0034596343 scopus 로고    scopus 로고
    • High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-postive melanoma families
    • Borg A, Sandberg T, Nisson K, et al: High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-postive melanoma families. J Natl Cancer Inst 92:260-1266, 2000
    • (2000) J Natl Cancer Inst , vol.92 , pp. 260-1266
    • Borg, A.1    Sandberg, T.2    Nisson, K.3
  • 158
    • 0037134702 scopus 로고    scopus 로고
    • Geographical variation in the penetrance of CDKN2A mutations for melanoma
    • Bishop DT, Demenais F, Goldstein AM, et al: Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancel Inst 94:894-903, 2002
    • (2002) J Natl Cancel Inst , vol.94 , pp. 894-903
    • Bishop, D.T.1    Demenais, F.2    Goldstein, A.M.3
  • 159
    • 2142645979 scopus 로고    scopus 로고
    • Clinical germline genetic testing for melanoma
    • Hansen CB, Wadge LM, Lowstuter K, et al: Clinical germline genetic testing for melanoma. Lancet Oncol 5:314-319, 2004
    • (2004) Lancet Oncol , vol.5 , pp. 314-319
    • Hansen, C.B.1    Wadge, L.M.2    Lowstuter, K.3
  • 160
    • 72849181879 scopus 로고
    • Multiple nevoid basai-cell epithelioma, jaw cysts and bifid rib. A syndrome
    • Gorlin RJ, Goltz RW: Multiple nevoid basai-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med 262:908-912, 1960
    • (1960) N Engl J Med , vol.262 , pp. 908-912
    • Gorlin, R.J.1    Goltz, R.W.2
  • 161
    • 0023222358 scopus 로고
    • Nevoid basal-cell carcinoma syndrome
    • Gorlin RJ: Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore) 66:98-113, 1987
    • (1987) Medicine (Baltimore) , vol.66 , pp. 98-113
    • Gorlin, R.J.1
  • 162
    • 0017671529 scopus 로고
    • Genetic and environmental interactions
    • Strong LC: Genetic and environmental interactions. Cancer 40:1861-1866, 1977
    • (1977) Cancer , vol.40 , pp. 1861-1866
    • Strong, L.C.1
  • 163
    • 0027231001 scopus 로고
    • Complications of the naevoid basal cell carcinoma syndrome: Results of a population based study
    • Evans DG, Ladusans EJ, Rimmer S, et al: Complications of the naevoid basal cell carcinoma syndrome: Results of a population based study. J Med Genet 30:460-464, 1993
    • (1993) J Med Genet , vol.30 , pp. 460-464
    • Evans, D.G.1    Ladusans, E.J.2    Rimmer, S.3
  • 164
    • 0030913738 scopus 로고    scopus 로고
    • The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma
    • Cowan R, Hoban P, Kelsey A, et al: The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma. Br J Cancer 76:141-145, 1997
    • (1997) Br J Cancer , vol.76 , pp. 141-145
    • Cowan, R.1    Hoban, P.2    Kelsey, A.3
  • 165
    • 15844381336 scopus 로고    scopus 로고
    • Human homolog of patched, a candidate gene for the basal cell nevus syndrome
    • Johnson RL, Rothman AL, Xie J, et al: Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272:1668-1671, 1996
    • (1996) Science , vol.272 , pp. 1668-1671
    • Johnson, R.L.1    Rothman, A.L.2    Xie, J.3
  • 166
    • 12844276949 scopus 로고    scopus 로고
    • Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident
    • Wicking C, Shanley S, Smyth I, et al: Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am J Hum Genet 60:21-26, 1997
    • (1997) Am J Hum Genet , vol.60 , pp. 21-26
    • Wicking, C.1    Shanley, S.2    Smyth, I.3
  • 167
    • 28744437736 scopus 로고    scopus 로고
    • Spectrum of PTCH mutations in Italian nevoid basal cell carcinoma patients
    • Savino M, d'Apolito M, Fonnica V, et al: Spectrum of PTCH mutations in Italian nevoid basal cell carcinoma patients Hum Mut 24:441-442, 2004
    • (2004) Hum Mut , vol.24 , pp. 441-442
    • Savino, M.1    d'Apolito, M.2    Fonnica, V.3
  • 169
    • 0000009909 scopus 로고    scopus 로고
    • Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search
    • Smith JR, Freije D, Carpten JD, et al: Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search. Science 274:1371-1374, 1996
    • (1996) Science , vol.274 , pp. 1371-1374
    • Smith, J.R.1    Freije, D.2    Carpten, J.D.3
  • 170
    • 0037623339 scopus 로고    scopus 로고
    • Genetic susceptibility to prostate cancer: A review
    • Verhage BA, Kiemeney LA: Genetic susceptibility to prostate cancer: A review. Fam Cancer 2:57-67, 2003
    • (2003) Fam Cancer , vol.2 , pp. 57-67
    • Verhage, B.A.1    Kiemeney, L.A.2
  • 171
    • 0031021750 scopus 로고    scopus 로고
    • Association of prostate cancer risk with genetic polymorphisms in vitamin D receptor and androgen receptor
    • Ingles SA, Ross RK, Yu MC, et al: Association of prostate cancer risk with genetic polymorphisms in vitamin D receptor and androgen receptor. J Natl Cancer Inst 89:166-170, 1997
    • (1997) J Natl Cancer Inst , vol.89 , pp. 166-170
    • Ingles, S.A.1    Ross, R.K.2    Yu, M.C.3
  • 172
    • 0029788360 scopus 로고    scopus 로고
    • Association of prostate cancer with vitamin D receptor gene polymorphism
    • Taylor JA, Hirvonen A, Watson M, et al: Association of prostate cancer with vitamin D receptor gene polymorphism Cancer Res 56:4108-4110, 1996
    • (1996) Cancer Res , vol.56 , pp. 4108-4110
    • Taylor, J.A.1    Hirvonen, A.2    Watson, M.3
  • 173
    • 2442440933 scopus 로고    scopus 로고
    • BRCA mutations and risk of prostate cancer in Ashkenazi Jews
    • Kirchhoff T, Kauff ND, Mitra N, et al: BRCA mutations and risk of prostate cancer in Ashkenazi Jews. Clin Cancer Res 10:2918-2921, 2004
    • (2004) Clin Cancer Res , vol.10 , pp. 2918-2921
    • Kirchhoff, T.1    Kauff, N.D.2    Mitra, N.3
  • 174
    • 0027299543 scopus 로고
    • The benefit and cost of prostate cancer early detection. The Investigators of the American Cancer Society-National Prostate Cancer Detection Project
    • Littrup PJ, Goodman AC, Mettlin CJ. The benefit and cost of prostate cancer early detection. The Investigators of the American Cancer Society-National Prostate Cancer Detection Project. CA Cancer J Clin 43:134-149, 1993
    • (1993) CA Cancer J Clin , vol.43 , pp. 134-149
    • Littrup, P.J.1    Goodman, A.C.2    Mettlin, C.J.3
  • 175
    • 0036717993 scopus 로고    scopus 로고
    • Hereditary prostate cancer: Clinical aspects
    • Bratt O: Hereditary prostate cancer: clinical aspects. J Urol 168:906-913, 2002
    • (2002) J Urol , vol.168 , pp. 906-913
    • Bratt, O.1
  • 176
    • 0026645945 scopus 로고
    • A screening study of prostate cancer in high risk families
    • McWhorter WP, Hernandez AD, Meikle AW, et al: A screening study of prostate cancer in high risk families. J Urol 148:826-828, 1992
    • (1992) J Urol , vol.148 , pp. 826-828
    • McWhorter, W.P.1    Hernandez, A.D.2    Meikle, A.W.3
  • 177
    • 0037812658 scopus 로고    scopus 로고
    • The influence of finasteride on the development of prostate cancer
    • Thompson IM, Goodman PJ, Tangen CM, et al: The influence of finasteride on the development of prostate cancer. N Engl J Med 349:215-224, 2003
    • (2003) N Engl J Med , vol.349 , pp. 215-224
    • Thompson, I.M.1    Goodman, P.J.2    Tangen, C.M.3
  • 178
    • 0027941969 scopus 로고
    • Multiple endocrine neoplasia type 1 (MENV)
    • Pang JT, Thakker RV: Multiple endocrine neoplasia type 1 (MENV). Eur J Cancer 30A: 1961-1968, 1994
    • (1994) Eur J Cancer , vol.30 A , pp. 1961-1968
    • Pang, J.T.1    Thakker, R.V.2
  • 179
    • 0030963446 scopus 로고    scopus 로고
    • Positional cloning of the gene for multiple endocrine neoplasia-type 1
    • Chandrasekharappa SC, Guru SC, Manickam P, et al: Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 276:404-407, 1997
    • (1997) Science , vol.276 , pp. 404-407
    • Chandrasekharappa, S.C.1    Guru, S.C.2    Manickam, P.3
  • 180
    • 0024853151 scopus 로고
    • Screening for the multiple endocrine neoplasia syndrome type I. A study of 11 kindreds in The Netherlands
    • Vasen HF, Lamers CB, Lips CJ: Screening for the multiple endocrine neoplasia syndrome type I. A study of 11 kindreds in The Netherlands. Arch Intern Med 149:2717-2722, 1989
    • (1989) Arch Intern Med , vol.149 , pp. 2717-2722
    • Vasen, H.F.1    Lamers, C.B.2    Lips, C.J.3
  • 181
    • 85047682409 scopus 로고    scopus 로고
    • Guidelines for diagnosis and therapy of MEN type 1 and type 2
    • Brandi ML, Gagel RF, Angeli A, et al: Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86:5658-5671, 2001
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 5658-5671
    • Brandi, M.L.1    Gagel, R.F.2    Angeli, A.3
  • 182
    • 0035916232 scopus 로고    scopus 로고
    • Recent advances in genetics, diagnosis, localization, and treatment of pheochromocytoma
    • Pacak K, Linehan WM, Eisenhofer G, et al: Recent advances in genetics, diagnosis, localization, and treatment of pheochromocytoma. Ann Intern Med 134:315-329, 2001
    • (2001) Ann Intern Med , vol.134 , pp. 315-329
    • Pacak, K.1    Linehan, W.M.2    Eisenhofer, G.3
  • 183
    • 0037709883 scopus 로고    scopus 로고
    • von Hippel Lindau disease
    • Lonser RR, Glenn GM, Walther M, et al: von Hippel Lindau disease. Lancet 361:2059-2067, 2003
    • (2003) Lancet , vol.361 , pp. 2059-2067
    • Lonser, R.R.1    Glenn, G.M.2    Walther, M.3
  • 184
    • 0030804006 scopus 로고    scopus 로고
    • Genetic predisposition to phaeochromocytoma. Analysis of candidate genes GDNF, RET and VHL
    • Woodward ER, Eng C, McMahon R, et al: Genetic predisposition to phaeochromocytoma. Analysis of candidate genes GDNF, RET and VHL. Hum Mol Genet 6:1051-1056, 1997
    • (1997) Hum Mol Genet , vol.6 , pp. 1051-1056
    • Woodward, E.R.1    Eng, C.2    McMahon, R.3
  • 185
    • 0037046659 scopus 로고    scopus 로고
    • Germ-line mutations in nonsyndromic pheochromocytoma
    • Neumann HP, Bausch B, McWhinney SR, et al: Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346:1459-1466, 2002
    • (2002) N Engl J Med , vol.346 , pp. 1459-1466
    • Neumann, H.P.1    Bausch, B.2    McWhinney, S.R.3
  • 186
    • 0036798174 scopus 로고    scopus 로고
    • The pressure uses update on the genetics of phaeochromocytoma
    • Maher ER, Erg C: The pressure uses update on the genetics of phaeochromocytoma Hum Mol Genet 11:2347-2354, 2002
    • (2002) Hum Mol Genet , vol.11 , pp. 2347-2354
    • Maher, E.R.1    Erg, C.2
  • 187
    • 6544234532 scopus 로고    scopus 로고
    • Clinical and genetic characterisation, of pheochromocytoma in von Hippel-Lindau families: Comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma
    • Walter MM, Reiter R, Keiser HR, et al: Clinical and genetic characterisation, of pheochromocytoma in von Hippel-Lindau families: Comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma. J Urol 162:659-664, 1999
    • (1999) J Urol , vol.162 , pp. 659-664
    • Walter, M.M.1    Reiter, R.2    Keiser, H.R.3
  • 188
    • 0042913365 scopus 로고    scopus 로고
    • Pheochromocytoma: The expanding genetic differential diagnosis
    • Bryant J, Farmer J, Kessler LJ, et al: Pheochromocytoma: the expanding genetic differential diagnosis. J Natl Cancer Inst 95:1196-1204, 2003
    • (2003) J Natl Cancer Inst , vol.95 , pp. 1196-1204
    • Bryant, J.1    Farmer, J.2    Kessler, L.J.3
  • 189
    • 4644256817 scopus 로고    scopus 로고
    • The relationship between specific RET protooncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis
    • Eng C, Clayton O, Schuffenecker I, et al The relationship between specific RET protooncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 276:1575-1579, 1996
    • (1996) JAMA , vol.276 , pp. 1575-1579
    • Eng, C.1    Clayton, O.2    Schuffenecker, I.3
  • 190
    • 1842610003 scopus 로고    scopus 로고
    • Surgical management of hereditary pheochromocytoma
    • Yip L, Lee JE, Shapiro SE, et al: Surgical management of hereditary pheochromocytoma. J Am Coll Surg 198:525-535, 2004
    • (2004) J Am Coll Surg , vol.198 , pp. 525-535
    • Yip, L.1    Lee, J.E.2    Shapiro, S.E.3
  • 191
    • 0034602950 scopus 로고    scopus 로고
    • Mutations in SDHD, a mitochondrial complex I: Gene, in hereditary paraganglioma
    • Baysal BE, Ferrell RE, Willett-Brozick JE, et al: Mutations in SDHD, a mitochondrial complex I: gene, in hereditary paraganglioma Science 287:848-851, 2000
    • (2000) Science , vol.287 , pp. 848-851
    • Baysal, B.E.1    Ferrell, R.E.2    Willett-Brozick, J.E.3
  • 192
    • 2942561954 scopus 로고    scopus 로고
    • Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families
    • Hensen EF, Jordanova ES, van Minderhout IJ, et al: Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene 23:4076-4083, 2004
    • (2004) Oncogene , vol.23 , pp. 4076-4083
    • Hensen, E.F.1    Jordanova, E.S.2    van Minderhout, I.J.3
  • 193
    • 4143105824 scopus 로고    scopus 로고
    • Distinct clinical features of paragangliomayndromes associated with SDHB and SDHD gene mutations
    • Neumann HP, Pawlu C, Peczkowska M, et al: Distinct clinical features of paragangliomayndromes associated with SDHB and SDHD gene mutations, JAMA 292:943-951, 2004
    • (2004) JAMA , vol.292 , pp. 943-951
    • Neumann, H.P.1    Pawlu, C.2    Peczkowska, M.3
  • 194
    • 0030028939 scopus 로고    scopus 로고
    • Medullary thyroid carcinoma in children with multiple endocrine neoplasia types 2A and 2B
    • Skinner MA, DeBenedetti MK, Moley JF, et al: Medullary thyroid carcinoma in children with multiple endocrine neoplasia types 2A and 2B. J Pediatr Surg 31:177-182, 1996
    • (1996) J Pediatr Surg , vol.31 , pp. 177-182
    • Skinner, M.A.1    DeBenedetti, M.K.2    Moley, J.F.3
  • 195
    • 0037709883 scopus 로고    scopus 로고
    • von Hippel-Lindau disease
    • Lonser RR, Glenn GM, Walther M, et al: von Hippel-Lindau disease. Lancet 361:2059-2067, 2003
    • (2003) Lancet , vol.361 , pp. 2059-2067
    • Lonser, R.R.1    Glenn, G.M.2    Walther, M.3
  • 197
    • 0033577985 scopus 로고    scopus 로고
    • Plasma normetanephrine and metanephnne for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2
    • Eisenhofer G, Lenders JW, Linehan WM, et al: Plasma normetanephrine and metanephnne for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. N Engl J Med 340:1872-1879, 1999
    • (1999) N Engl J Med , vol.340 , pp. 1872-1879
    • Eisenhofer, G.1    Lenders, J.W.2    Linehan, W.M.3
  • 198
    • 0036716038 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for cancer predisposition
    • Rechitsky S, Verlinsky O, Chistokhina A, et al: Preimplantation genetic diagnosis for cancer predisposition. Reprod Biomed Online 5:148-155, 2002
    • (2002) Reprod Biomed Online , vol.5 , pp. 148-155
    • Rechitsky, S.1    Verlinsky, O.2    Chistokhina, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.