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Volumn 77, Issue 4, 2010, Pages 333-341

Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma-prone families

Author keywords

BRCA2; CDKN2A; FAMMM; Melanoma; Pancreatic cancer; PCMS

Indexed keywords

ADENOSINE DIPHOSPHATE RIBOSYLATION FACTOR; ADENOSINE DIPHOSPHATE RIBOSYLATION FACTOR LIKE PROTEIN 11; BRCA2 PROTEIN; CASPASE RECRUITMENT DOMAIN PROTEIN 15; CHECKPOINT KINASE 2; CYCLIN DEPENDENT KINASE INHIBITOR 2A; UNCLASSIFIED DRUG;

EID: 77951739522     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01352.x     Document Type: Article
Times cited : (30)

References (46)
  • 1
    • 0023233894 scopus 로고
    • Familial pancreatic adenocarcinoma in three generations. A case report and a review of the literature.
    • Ehrenthal D, Haeger L, Griffi T. Familial pancreatic adenocarcinoma in three generations. A case report and a review of the literature. Cancer 1987, 59:1661-1664.
    • (1987) Cancer , vol.59 , pp. 1661-1664
    • Ehrenthal, D.1    Haeger, L.2    Griffi, T.3
  • 2
    • 0015883612 scopus 로고
    • Adenocarcinoma of the pancreas in four siblings
    • MacDermott RP, Kramer P. Adenocarcinoma of the pancreas in four siblings. Gastroenterology 1973, 65:137-139.
    • (1973) Gastroenterology , vol.65 , pp. 137-139
    • MacDermott, R.P.1    Kramer, P.2
  • 4
    • 0024670366 scopus 로고
    • Familial pancreatic cancer (Part 1): genetic pathology review
    • Lynch H, Lanspa S, Fitzgibbons RJ. Familial pancreatic cancer (Part 1): genetic pathology review. Nebr Med J 1989, 74:109-112.
    • (1989) Nebr Med J , vol.74 , pp. 109-112
    • Lynch, H.1    Lanspa, S.2    Fitzgibbons, R.J.3
  • 5
    • 2942532130 scopus 로고    scopus 로고
    • Prevalence of familial pancreatic cancer in Germany
    • Bartsch DK, Kress R, Sina-Frey M. Prevalence of familial pancreatic cancer in Germany. Int J Cancer 2004, 110:902-906.
    • (2004) Int J Cancer , vol.110 , pp. 902-906
    • Bartsch, D.K.1    Kress, R.2    Sina-Frey, M.3
  • 6
    • 0037428656 scopus 로고    scopus 로고
    • Familial and second primary pancreatic cancers: a nationwide epidemiologic study from Sweden
    • Hemminki K, Li X. Familial and second primary pancreatic cancers: a nationwide epidemiologic study from Sweden. Int J Cancer 2003, 103:525-530.
    • (2003) Int J Cancer , vol.103 , pp. 525-530
    • Hemminki, K.1    Li, X.2
  • 7
    • 0026584353 scopus 로고
    • The Dutch FAMMM family material: clinical and genetic data
    • Bergman W, Gruis NA, Frants RR. The Dutch FAMMM family material: clinical and genetic data. Cytogenet Cell Genet 1992, 59:161-164.
    • (1992) Cytogenet Cell Genet , vol.59 , pp. 161-164
    • Bergman, W.1    Gruis, N.A.2    Frants, R.R.3
  • 8
    • 0023140593 scopus 로고
    • Hereditary melanoma and the dysplastic nevus syndrome: the risk of cancers other than melanoma
    • Greene MH, Tucker MA, Clark WH. Hereditary melanoma and the dysplastic nevus syndrome: the risk of cancers other than melanoma. J Am Acad Dermatol 1987, 16:792-797.
    • (1987) J Am Acad Dermatol , vol.16 , pp. 792-797
    • Greene, M.H.1    Tucker, M.A.2    Clark, W.H.3
  • 9
    • 85056036856 scopus 로고
    • A case of fungoid disease
    • Norris WA. A case of fungoid disease. Edinb Med Surg J 1820, 16:562-565.
    • (1820) Edinb Med Surg J , vol.16 , pp. 562-565
    • Norris, W.A.1
  • 10
    • 0014404860 scopus 로고
    • Heredity and malignant melanoma: implications for early cancer detection
    • Lynch H, Krush A. Heredity and malignant melanoma: implications for early cancer detection. Can Med Assoc J 1968, 99:17-21.
    • (1968) Can Med Assoc J , vol.99 , pp. 17-21
    • Lynch, H.1    Krush, A.2
  • 11
    • 0018123909 scopus 로고
    • Familial atypical multiple mole-melanoma syndrome
    • Lynch HT, Frichot BC, Lynch JF. Familial atypical multiple mole-melanoma syndrome. J Med Genet 1978, 15:352-356.
    • (1978) J Med Genet , vol.15 , pp. 352-356
    • Lynch, H.T.1    Frichot, B.C.2    Lynch, J.F.3
  • 12
    • 0036143702 scopus 로고    scopus 로고
    • Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome
    • Lynch HT, Brand RE, Hogg D. Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome. Cancer 2002, 94:84-96.
    • (2002) Cancer , vol.94 , pp. 84-96
    • Lynch, H.T.1    Brand, R.E.2    Hogg, D.3
  • 13
    • 0020557521 scopus 로고
    • Familial atypical multiple mole-melanoma (FAMMM) syndrome: segregation analysis
    • Lynch H, Fusaro R, Kimberling W. Familial atypical multiple mole-melanoma (FAMMM) syndrome: segregation analysis. J Med Genet 1983, 20:342-344.
    • (1983) J Med Genet , vol.20 , pp. 342-344
    • Lynch, H.1    Fusaro, R.2    Kimberling, W.3
  • 14
    • 0029129816 scopus 로고
    • Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations
    • Goldstein A, Fraser M, Struewing J. Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N Engl J Med 1995, 333:970-974.
    • (1995) N Engl J Med , vol.333 , pp. 970-974
    • Goldstein, A.1    Fraser, M.2    Struewing, J.3
  • 15
    • 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. 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 2000, 87:809-811.
    • (2000) Int J Cancer , vol.87 , pp. 809-811
    • Vasen, H.F.1    Gruis, N.A.2    Frants, R.R.3
  • 16
    • 0036895738 scopus 로고    scopus 로고
    • CDKN2A germline mutations in familial pancreatic cancer
    • Bartsch D, Sina-Frey M, Lang S. CDKN2A germline mutations in familial pancreatic cancer. Ann Surg 2002, 236:730-737.
    • (2002) Ann Surg , vol.236 , pp. 730-737
    • Bartsch, D.1    Sina-Frey, M.2    Lang, S.3
  • 17
    • 0029102927 scopus 로고
    • Brief report: a familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor suppressor gene
    • Whelan AJ, Bartsch D, Goodfellow PJ. Brief report: a familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor suppressor gene. N Engl J Med 1995, 333:975-977.
    • (1995) N Engl J Med , vol.333 , pp. 975-977
    • Whelan, A.J.1    Bartsch, D.2    Goodfellow, P.J.3
  • 18
    • 0032222915 scopus 로고    scopus 로고
    • Novel germline p16(INK4) allele (ASP145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online.
    • Moskaluk CA, Hruban H, Lietman A. Novel germline p16(INK4) allele (ASP145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online. Hum Mutat 1998, 12:70.
    • (1998) Hum Mutat , vol.12 , pp. 70
    • Moskaluk, C.A.1    Hruban, H.2    Lietman, A.3
  • 19
    • 0034596343 scopus 로고    scopus 로고
    • High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families
    • Borg A, Sandberg T, Nilsson K. High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst 2000, 92:1260-1266.
    • (2000) J Natl Cancer Inst , vol.92 , pp. 1260-1266
    • Borg, A.1    Sandberg, T.2    Nilsson, K.3
  • 20
    • 0043073213 scopus 로고    scopus 로고
    • Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome
    • Rulyak SJ, Brentnall TA, Lynch HT. Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome. Cancer 2003, 98:798-804.
    • (2003) Cancer , vol.98 , pp. 798-804
    • Rulyak, S.J.1    Brentnall, T.A.2    Lynch, H.T.3
  • 21
    • 0027769876 scopus 로고
    • A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4
    • Serrano M, Hannon GI, Beach D. A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature 1993, 366:704-707.
    • (1993) Nature , vol.366 , pp. 704-707
    • Serrano, M.1    Hannon, G.I.2    Beach, D.3
  • 22
    • 0032169516 scopus 로고    scopus 로고
    • The alternative product from the human CDKN2a locus, p14 (ARF), participates in a regulatory feedback loop with p53 and MDM2
    • Stott FJ, Bates S, James MC. The alternative product from the human CDKN2a locus, p14 (ARF), participates in a regulatory feedback loop with p53 and MDM2. EMBO J 1998, 17:5001-5014.
    • (1998) EMBO J , vol.17 , pp. 5001-5014
    • Stott, F.J.1    Bates, S.2    James, M.C.3
  • 23
    • 0035552527 scopus 로고    scopus 로고
    • Update of familial pancreatic cancer in Germany
    • Bartsch DK, Sina-Frey M, Ziegler A. Update of familial pancreatic cancer in Germany. Pancreatology 2001, 1:510-516.
    • (2001) Pancreatology , vol.1 , pp. 510-516
    • Bartsch, D.K.1    Sina-Frey, M.2    Ziegler, A.3
  • 24
    • 0035996222 scopus 로고    scopus 로고
    • German national case collection of familial pancreatic cancer - clinical-genetic analysis of the first 21 families
    • Rieder H, Sina-Frey M, Ziegler A. German national case collection of familial pancreatic cancer - clinical-genetic analysis of the first 21 families. Onkologie 2002, 25:262-266.
    • (2002) Onkologie , vol.25 , pp. 262-266
    • Rieder, H.1    Sina-Frey, M.2    Ziegler, A.3
  • 25
    • 0036269812 scopus 로고    scopus 로고
    • Familial pancreatic cancer - concept for study of the National Case Collection and early diagnosis program for high risk people
    • Gerdes B, Kress R, Rieder H. Familial pancreatic cancer - concept for study of the National Case Collection and early diagnosis program for high risk people. Z Arztl Fortbild Qualitatssich 2002, 96:251-255.
    • (2002) Z Arztl Fortbild Qualitatssich , vol.96 , pp. 251-255
    • Gerdes, B.1    Kress, R.2    Rieder, H.3
  • 26
    • 34948870763 scopus 로고    scopus 로고
    • Advances in counselling and surveillance of patients at risk for pancreatic cancer
    • Brand RE, Lerch MM, Rubinstein WS. Advances in counselling and surveillance of patients at risk for pancreatic cancer. Gut 2007, 56:1460-1469.
    • (2007) Gut , vol.56 , pp. 1460-1469
    • Brand, R.E.1    Lerch, M.M.2    Rubinstein, W.S.3
  • 27
    • 0037420026 scopus 로고    scopus 로고
    • BRCA2 germline mutations in familial pancreatic carcinoma
    • Hahn SA, Greenhalf W, Ellis I. BRCA2 germline mutations in familial pancreatic carcinoma. J Natl Cancer Inst 2003, 95:214-221.
    • (2003) J Natl Cancer Inst , vol.95 , pp. 214-221
    • Hahn, S.A.1    Greenhalf, W.2    Ellis, I.3
  • 28
    • 33845548766 scopus 로고    scopus 로고
    • Low frequency of CHEK2 mutations in familial pancreatic cancer
    • Bartsch DK, Krysewski K, Sina-Frey M. Low frequency of CHEK2 mutations in familial pancreatic cancer. Fam Cancer 2006, 5:305-308.
    • (2006) Fam Cancer , vol.5 , pp. 305-308
    • Bartsch, D.K.1    Krysewski, K.2    Sina-Frey, M.3
  • 29
    • 0037320555 scopus 로고    scopus 로고
    • Mutations in CHEK2 associated with prostate cancer risk
    • Dong X, Wang L, Taniguchi K. Mutations in CHEK2 associated with prostate cancer risk. Am J Hum Genet 2003, 72:270-280.
    • (2003) Am J Hum Genet , vol.72 , pp. 270-280
    • Dong, X.1    Wang, L.2    Taniguchi, K.3
  • 30
    • 20244379702 scopus 로고    scopus 로고
    • Familial cancer associated with a polymorphism in ARLTS1
    • Calin GA, Trapasso F, Shimizu M. Familial cancer associated with a polymorphism in ARLTS1. N Engl J Med 2005, 352:1667-1676.
    • (2005) N Engl J Med , vol.352 , pp. 1667-1676
    • Calin, G.A.1    Trapasso, F.2    Shimizu, M.3
  • 31
    • 31144441320 scopus 로고    scopus 로고
    • The NOD2 3020insC mutation and the risk of familial pancreatic cancer?
    • Nej K, Bartsch DK, Sina-Frey M. The NOD2 3020insC mutation and the risk of familial pancreatic cancer? Hered Cancer Clin Pract 2004, 2:149-150.
    • (2004) Hered Cancer Clin Pract , vol.2 , pp. 149-150
    • Nej, K.1    Bartsch, D.K.2    Sina-Frey, M.3
  • 32
    • 33845885517 scopus 로고    scopus 로고
    • Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism
    • Pogue-Geile KL, Chen R, Bronner MP. Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism. PLoS Med 2006, 3:e516.
    • (2006) PLoS Med , vol.3
    • Pogue-Geile, K.L.1    Chen, R.2    Bronner, M.P.3
  • 33
    • 8844283535 scopus 로고    scopus 로고
    • A novel founder CHEK2 mutation is associated with increased prostate cancer risk
    • Cybulski C, Huzarski T, Gorski B. A novel founder CHEK2 mutation is associated with increased prostate cancer risk. Cancer Res 2004, 64:2677-2679.
    • (2004) Cancer Res , vol.64 , pp. 2677-2679
    • Cybulski, C.1    Huzarski, T.2    Gorski, B.3
  • 34
    • 12144287610 scopus 로고    scopus 로고
    • The NOD2 3020C mutation and the risk of colorectal cancer
    • Kurzawski G, Suchy J, Kladny J. The NOD2 3020C mutation and the risk of colorectal cancer. Cancer Res 2004, 64:1604-1606.
    • (2004) Cancer Res , vol.64 , pp. 1604-1606
    • Kurzawski, G.1    Suchy, J.2    Kladny, J.3
  • 36
    • 36849009583 scopus 로고    scopus 로고
    • Predicting the risk of pancreatic cancer: on CDKN2A mutations in the melanoma-pancreatic cancer syndrome in Italy
    • Ghiorzo P, Gargiulo S, Nasti S. Predicting the risk of pancreatic cancer: on CDKN2A mutations in the melanoma-pancreatic cancer syndrome in Italy. J Clin Oncol 2007, 25:5336-5337.
    • (2007) J Clin Oncol , vol.25 , pp. 5336-5337
    • Ghiorzo, P.1    Gargiulo, S.2    Nasti, S.3
  • 38
    • 0029009926 scopus 로고
    • Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds
    • Gruis N, van der Velden P, Sandkuijl L. Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nat Genet 1995, 10:351-353.
    • (1995) Nat Genet , vol.10 , pp. 351-353
    • Gruis, N.1    van der Velden, P.2    Sandkuijl, L.3
  • 39
    • 0029038538 scopus 로고
    • CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families
    • Gruis NA, Sandkuijl LA, van der Velden PA. CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families. Melanoma Res 1995, 5:169-177.
    • (1995) Melanoma Res , vol.5 , pp. 169-177
    • Gruis, N.A.1    Sandkuijl, L.A.2    van der Velden, P.A.3
  • 40
    • 35448979545 scopus 로고    scopus 로고
    • BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma
    • Monnerat C, Chompret A, Kannengiesser C. BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma. Fam Cancer 2007, 6:453-461.
    • (2007) Fam Cancer , vol.6 , pp. 453-461
    • Monnerat, C.1    Chompret, A.2    Kannengiesser, C.3
  • 41
    • 0031950026 scopus 로고    scopus 로고
    • Recent discoveries in cancer genetics of exocrine pancreatic neoplasia
    • Hahn SA, Schmiegel WH. Recent discoveries in cancer genetics of exocrine pancreatic neoplasia. Digestion 1998, 59:493-501.
    • (1998) Digestion , vol.59 , pp. 493-501
    • Hahn, S.A.1    Schmiegel, W.H.2
  • 42
    • 33847282821 scopus 로고    scopus 로고
    • Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
    • Goldstein A, Chan M, Harland M. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet 2007, 44:99-106.
    • (2007) J Med Genet , vol.44 , pp. 99-106
    • Goldstein, A.1    Chan, M.2    Harland, M.3
  • 43
    • 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. Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%. Cancer Res 2002, 62:3789-3793.
    • (2002) Cancer Res , vol.62 , pp. 3789-3793
    • Murphy, K.M.1    Brune, K.A.2    Griffin, C.3
  • 44
    • 12544252133 scopus 로고    scopus 로고
    • Functional evaluation and cancer risk assessment of BRCA2 unclassified variants
    • Wu K, Hinson SR, Ohashi A. Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res 2005, 65:417-426.
    • (2005) Cancer Res , vol.65 , pp. 417-426
    • Wu, K.1    Hinson, S.R.2    Ohashi, A.3
  • 45
    • 19944414645 scopus 로고    scopus 로고
    • Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer
    • Martin ST, Matsubayashi H, Rogers CD. Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer. Oncogene 2005, 24:3652-3656.
    • (2005) Oncogene , vol.24 , pp. 3652-3656
    • Martin, S.T.1    Matsubayashi, H.2    Rogers, C.D.3
  • 46
    • 13644253821 scopus 로고    scopus 로고
    • The 3020insC allele of NOD2 predisposes to early-onset breast cancer
    • Huzarski T, Lener M, Domatala W. The 3020insC allele of NOD2 predisposes to early-onset breast cancer. Breast Cancer Res Treat 2005, 89:91-93.
    • (2005) Breast Cancer Res Treat , vol.89 , pp. 91-93
    • Huzarski, T.1    Lener, M.2    Domatala, W.3


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