메뉴 건너뛰기




Volumn 104, Issue 12, 2005, Pages 2807-2816

BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases

Author keywords

BRCA1 and 2 mutations; Familial; Genetics; Ovarian neoplasms; Population based; Risk assessment

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 29144509766     PISSN: 0008543X     EISSN: None     Source Type: Journal    
DOI: 10.1002/cncr.21536     Document Type: Article
Times cited : (653)

References (43)
  • 1
    • 18044384874 scopus 로고    scopus 로고
    • Atlanta: American Cancer Society
    • American Cancer Society. Cancer facts and figures 2005, vol. 2005. Atlanta: American Cancer Society, 2005.
    • (2005) Cancer Facts and Figures 2005 , vol.2005
  • 2
    • 0029100049 scopus 로고
    • Genetic heterogeneity of breast-ovarian cancer revisited. Breast Cancer Linkage Consortium
    • Narod S, Ford D, Devilee P, et al. Genetic heterogeneity of breast-ovarian cancer revisited. Breast Cancer Linkage Consortium. Am J Hum Genet. 1995;57:957-958.
    • (1995) Am J Hum Genet , vol.57 , pp. 957-958
    • Narod, S.1    Ford, D.2    Devilee, P.3
  • 3
    • 0031832541 scopus 로고    scopus 로고
    • Sequence analysis of BRCA1 and BRCA2: Correlation of mutations with family history and ovarian cancer risk
    • Frank TS, Manley SA, Olopade OI, et al. Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol. 1998;16:2417-2425.
    • (1998) J Clin Oncol , vol.16 , pp. 2417-2425
    • Frank, T.S.1    Manley, S.A.2    Olopade, O.I.3
  • 5
    • 0028641225 scopus 로고
    • Characteristics relating to ovarian cancer risk: Implications for prevention and detection
    • Whittemore AS. Characteristics relating to ovarian cancer risk: implications for prevention and detection. Gynecol Oncol. 1994;55:S15-S19.
    • (1994) Gynecol Oncol , vol.55
    • Whittemore, A.S.1
  • 6
    • 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. 2001;68:700-710.
    • (2001) Am J Hum Genet , vol.68 , pp. 700-710
    • Risch, H.A.1    McLaughlin, J.R.2    Cole, D.E.3
  • 7
    • 0034123318 scopus 로고    scopus 로고
    • Characteristics of BRCA1 mutations in a population-based case series of breast and ovarian cancer
    • Anton-Culver H, Cohen PF, Gildea ME, Ziogas A. Characteristics of BRCA1 mutations in a population-based case series of breast and ovarian cancer. Eur J Cancer. 2000;36:1200-1208.
    • (2000) Eur J Cancer , vol.36 , pp. 1200-1208
    • Anton-Culver, H.1    Cohen, P.F.2    Gildea, M.E.3    Ziogas, A.4
  • 8
    • 0034787613 scopus 로고    scopus 로고
    • Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: Two common founder mutations of BRCA1 in Japanese population
    • Sekine M, Nagata H, Tsuji S, et al. Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population. Clin Cancer Res. 2001;7:3144-3150.
    • (2001) Clin Cancer Res , vol.7 , pp. 3144-3150
    • Sekine, M.1    Nagata, H.2    Tsuji, S.3
  • 9
    • 0029009749 scopus 로고
    • Mutation analysis of the BRCA1 gene in ovarian cancers
    • Takahashi H, Behbakht K, McGovern PE, et al. Mutation analysis of the BRCA1 gene in ovarian cancers. Cancer Res. 1995;55:2998-3002.
    • (1995) Cancer Res , vol.55 , pp. 2998-3002
    • Takahashi, H.1    Behbakht, K.2    McGovern, P.E.3
  • 10
    • 0031003498 scopus 로고    scopus 로고
    • Contribution of BRCA1 mutations to ovarian cancer
    • Stratton JF, Gayther SA, Russell P, et al. Contribution of BRCA1 mutations to ovarian cancer. N Engl J Med. 1997;336:1125-1130.
    • (1997) N Engl J Med , vol.336 , pp. 1125-1130
    • Stratton, J.F.1    Gayther, S.A.2    Russell, P.3
  • 11
    • 0031755914 scopus 로고    scopus 로고
    • Frequency of germline and somatic BRCA1 mutations in ovarian cancer
    • Berchuck A, Heron KA, Carney ME, et al. Frequency of germline and somatic BRCA1 mutations in ovarian cancer. Clin Cancer Res. 1998;4:2433-2437.
    • (1998) Clin Cancer Res , vol.4 , pp. 2433-2437
    • Berchuck, A.1    Heron, K.A.2    Carney, M.E.3
  • 12
    • 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. 2001;345:235-240.
    • (2001) N Engl J Med , vol.345 , pp. 235-240
    • Modan, B.1    Hartge, P.2    Hirsh-Yechezkel, G.3
  • 13
    • 1642554820 scopus 로고    scopus 로고
    • One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: Results of a prospective study in southern Sweden
    • Malander S, Ridderheim M, Masback A, et al. One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in southern Sweden. Eur J Cancer. 2004;40:422-428.
    • (2004) Eur J Cancer , vol.40 , pp. 422-428
    • Malander, S.1    Ridderheim, M.2    Masback, A.3
  • 14
    • 0042338757 scopus 로고    scopus 로고
    • Hereditary ovarian cancer in Poland
    • Menkiszak J, Gronwald J, Gorski B, et al. Hereditary ovarian cancer in Poland. Int J Cancer. 2003;106:942-945.
    • (2003) Int J Cancer , vol.106 , pp. 942-945
    • Menkiszak, J.1    Gronwald, J.2    Gorski, B.3
  • 15
    • 0028865866 scopus 로고
    • Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: Four germline mutations, but no evidence of somatic mutation
    • Matsushima M, Kobayashi K, Emi M, et al. Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation. Hum Mol Genet. 1995;4:1953-1956.
    • (1995) Hum Mol Genet , vol.4 , pp. 1953-1956
    • Matsushima, M.1    Kobayashi, K.2    Emi, M.3
  • 16
    • 0031958466 scopus 로고    scopus 로고
    • BRCA1, BRCA2 and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: Relationship to family history and implications for genetic testing
    • Rubin SC, Blackwood MA, Bandera C, et al. BRCA1, BRCA2 and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: relationship to family history and implications for genetic testing. Am J Obstet Gynecol. 1998;178:670-677.
    • (1998) Am J Obstet Gynecol , vol.178 , pp. 670-677
    • Rubin, S.C.1    Blackwood, M.A.2    Bandera, C.3
  • 17
    • 0034098976 scopus 로고    scopus 로고
    • Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary
    • Van Der Looij M, Szabo C, Besznyak I, et al. Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary. Int J Cancer. 2000;86:737-740.
    • (2000) Int J Cancer , vol.86 , pp. 737-740
    • Van Der Looij, M.1    Szabo, C.2    Besznyak, I.3
  • 18
    • 0034221277 scopus 로고    scopus 로고
    • Mutational analysis of BRCAl and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations
    • Khoo US, Ngan HY, Cheung AN, et al. Mutational analysis of BRCAl and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations. Hum Mutat. 2000;16:88-89.
    • (2000) Hum Mutat , vol.16 , pp. 88-89
    • Khoo, U.S.1    Ngan, H.Y.2    Cheung, A.N.3
  • 19
    • 10844222735 scopus 로고    scopus 로고
    • BRCA1 mutations in ovarian cancer and borderline tumours in Norway: A nested case-control study
    • Bjorge T, Lie AK, Hovig E, et al. BRCA1 mutations in ovarian cancer and borderline tumours in Norway: a nested case-control study. Br J Cancer. 2004;91:1829-1834.
    • (2004) Br J Cancer , vol.91 , pp. 1829-1834
    • Bjorge, T.1    Lie, A.K.2    Hovig, E.3
  • 20
    • 19944422091 scopus 로고    scopus 로고
    • Prevalence and clinical correlations of BRCA1/BRCA2 unclassified variant carriers among unselected primary ovarian cancer cases-preliminary report
    • Majdak EJ, De Bock GH, Brozek I, et al. Prevalence and clinical correlations of BRCA1/BRCA2 unclassified variant carriers among unselected primary ovarian cancer cases-preliminary report. Eur J Cancer. 2005;41:143-150.
    • (2005) Eur J Cancer , vol.41 , pp. 143-150
    • Majdak, E.J.1    De Bock, G.H.2    Brozek, I.3
  • 21
    • 9644257250 scopus 로고    scopus 로고
    • BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: A population-based study
    • Rafnar T, Benediktsdottir KR, Eldon BJ, et al. BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: a population-based study. Eur J Cancer. 2004;40:2788-2793.
    • (2004) Eur J Cancer , vol.40 , pp. 2788-2793
    • Rafnar, T.1    Benediktsdottir, K.R.2    Eldon, B.J.3
  • 22
    • 0001962044 scopus 로고    scopus 로고
    • Epithelial ovarian cancer
    • Hoskins WJ, Perez CA, Young RC, editors. Philadelphia: Lippincott-Raven Publishers
    • Ozols RF, Rubin SC, Thomas G, Robboy S. Epithelial ovarian cancer. In: Hoskins WJ, Perez CA, Young RC, editors. Principles and practice of gynecologic oncology. Philadelphia: Lippincott-Raven Publishers, 1997:919-986.
    • (1997) Principles and Practice of Gynecologic Oncology , pp. 919-986
    • Ozols, R.F.1    Rubin, S.C.2    Thomas, G.3    Robboy, S.4
  • 24
    • 0028970288 scopus 로고
    • How accurate is self-reported family history of colorectal cancer?
    • Aitken J, Bain C, Ward M, Siskind V, MacLennan R. How accurate is self-reported family history of colorectal cancer? Am J Epidemiol. 1995;141:863-871.
    • (1995) Am J Epidemiol , vol.141 , pp. 863-871
    • Aitken, J.1    Bain, C.2    Ward, M.3    Siskind, V.4    MacLennan, R.5
  • 25
    • 0021810473 scopus 로고
    • The accuracy of patient reports of a family history of cancer
    • Love RR, Evans AM, Josten DM. The accuracy of patient reports of a family history of cancer. J Chron Dis. 1985;38:289-293.
    • (1985) J Chron Dis , vol.38 , pp. 289-293
    • Love, R.R.1    Evans, A.M.2    Josten, D.M.3
  • 26
    • 0029798030 scopus 로고    scopus 로고
    • Validation of family history of cancer in deceased family members
    • Novakovic B, Goldstein AM, Tucker MA. Validation of family history of cancer in deceased family members. J Natl Cancer Inst. 1996;88:1492-1493.
    • (1996) J Natl Cancer Inst , vol.88 , pp. 1492-1493
    • Novakovic, B.1    Goldstein, A.M.2    Tucker, M.A.3
  • 27
    • 9744273966 scopus 로고    scopus 로고
    • Accuracy of cancer family histories: Comparison of two breast cancer syndromes
    • Schneider KA, DiGianni LM, Patenaude AF, et al. Accuracy of cancer family histories: comparison of two breast cancer syndromes. Genet Test. 2004;8:222-228.
    • (2004) Genet Test , vol.8 , pp. 222-228
    • Schneider, K.A.1    Digianni, L.M.2    Patenaude, A.F.3
  • 28
    • 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. 2002;20:1480-1490.
    • (2002) J Clin Oncol , vol.20 , pp. 1480-1490
    • Frank, T.S.1    Deffenbaugh, A.M.2    Reid, J.E.3
  • 29
    • 16944363592 scopus 로고    scopus 로고
    • BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
    • Petrij-Bosch A, Peelen T, van Vliet M, et al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet. 1997;17:341-345.
    • (1997) Nat Genet , vol.17 , pp. 341-345
    • Petrij-Bosch, A.1    Peelen, T.2    Van Vliet, M.3
  • 30
    • 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. 2000;67:841-850.
    • (2000) Am J Hum Genet , vol.67 , pp. 841-850
    • Unger, M.A.1    Nathanson, K.L.2    Calzone, K.3
  • 31
    • 0033909581 scopus 로고    scopus 로고
    • The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations
    • The BRCA1 Exon 13 Duplication Screening Group
    • [No authors listed.] The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group. Am J Hum Genet. 2000;67:207-212.
    • (2000) Am J Hum Genet , vol.67 , pp. 207-212
  • 32
    • 18744438556 scopus 로고    scopus 로고
    • An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10
    • Rohlfs EM, Puget N, Graham ML, et al. An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10. Genes Chromosomes Cancer. 2000;28:300-307.
    • (2000) Genes Chromosomes Cancer , vol.28 , pp. 300-307
    • Rohlfs, E.M.1    Puget, N.2    Graham, M.L.3
  • 33
    • 29144518451 scopus 로고    scopus 로고
    • Identification of a novel 26 kb deletion in BRCA1 haplotype pair analysis
    • Ward BC, Hendrikson CA, Gaglio T, Scholl T. Identification of a novel 26 kb deletion in BRCA1 haplotype pair analysis [abstract]. Am J Hum Genet. 2002;71(4 Suppl):249.
    • (2002) Am J Hum Genet , vol.71 , Issue.4 SUPPL. , pp. 249
    • Ward, B.C.1    Hendrikson, C.A.2    Gaglio, T.3    Scholl, T.4
  • 35
    • 0036591555 scopus 로고    scopus 로고
    • Clinical interpretation and recommendations for patients with a variant of uncertain significance in BRCA1 or BRCA2: A survey of genetic counseling practice
    • Petrucelli N, Lazebnik N, Huelsman KM, Lazebnik RS. Clinical interpretation and recommendations for patients with a variant of uncertain significance in BRCA1 or BRCA2: a survey of genetic counseling practice. Genet Test. 2002;6:107-113.
    • (2002) Genet Test , vol.6 , pp. 107-113
    • Petrucelli, N.1    Lazebnik, N.2    Huelsman, K.M.3    Lazebnik, R.S.4
  • 36
    • 0348141866 scopus 로고    scopus 로고
    • Histopathology, FIGO stage, and BRCA mutation status of ovarian cancers from the Gilda Radner Familial Ovarian Cancer Registry
    • Werness BA, Ramus SJ, DiCioccio RA, et al. Histopathology, FIGO stage, and BRCA mutation status of ovarian cancers from the Gilda Radner Familial Ovarian Cancer Registry. Int. J Gynecol Pathol. 2004;23:29-34.
    • (2004) Int J Gynecol Pathol , vol.23 , pp. 29-34
    • Werness, B.A.1    Ramus, S.J.2    Dicioccio, R.A.3
  • 37
    • 0141892818 scopus 로고    scopus 로고
    • Histopathological characteristics of BRCA1- and ARG42-associated intraperitoneal cancer: A clinic-based study
    • Piek JM, Torrenga B, Hermsen B, et al. Histopathological characteristics of BRCA1- and ARG42-associated intraperitoneal cancer: a clinic-based study. Family Cancer. 2003;2:73-78.
    • (2003) Family Cancer , vol.2 , pp. 73-78
    • Piek, J.M.1    Torrenga, B.2    Hermsen, B.3
  • 38
    • 0033694786 scopus 로고    scopus 로고
    • Histopathology of familial ovarian tumors in women from families with and without germline BRCA1 mutations
    • Werness BA, Ramus SJ, Whittemore AS, et al. Histopathology of familial ovarian tumors in women from families with and without germline BRCA1 mutations. Hum Pathol. 2000;31:1420-1424.
    • (2000) Hum Pathol , vol.31 , pp. 1420-1424
    • Werness, B.A.1    Ramus, S.J.2    Whittemore, A.S.3
  • 40
    • 0032608379 scopus 로고    scopus 로고
    • A population-based study of BRCA1 and BRCA2 mutations in Jewish women with epithelial ovarian cancer
    • Lu KH, Cramer DW, Muto MG, Li EY, Niloff J, Mok SC. A population-based study of BRCA1 and BRCA2 mutations in Jewish women with epithelial ovarian cancer. Obstet Gynecol. 1999;93:34-37.
    • (1999) Obstet Gynecol , vol.93 , pp. 34-37
    • Lu, K.H.1    Cramer, D.W.2    Muto, M.G.3    Li, E.Y.4    Niloff, J.5    Mok, S.C.6
  • 41
    • 0032126139 scopus 로고    scopus 로고
    • Rates of Jewish ancestral mutations in BRCA1 and BRCA2 in borderline ovarian tumors
    • Gotlieb WH, Friedman E, Bar-Sade RB, et al. Rates of Jewish ancestral mutations in BRCA1 and BRCA2 in borderline ovarian tumors. J Natl Cancer Inst. 1998;90:995-1000.
    • (1998) J Natl Cancer Inst , vol.90 , pp. 995-1000
    • Gotlieb, W.H.1    Friedman, E.2    Bar-Sade, R.B.3
  • 43
    • 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. 2000;283:2260-2265.
    • (2000) JAMA , vol.283 , pp. 2260-2265
    • Boyd, J.1    Sonoda, Y.2    Federici, M.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.