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Volumn 99, Issue 10, 2008, Pages 1967-1976

Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer

(31)  Sugano, Kokichi a,f,g   Nakamura, Seigo i   Ando, Jiro a   Takayama, Shin a,e   Kamata, Hiroyuki a   Sekiguchi, Isao a   Ubukata, Megumi a   Kodama, Tetsuro a,g   Arai, Masami d   Kasumi, Fujio d   Hirai, Yasuo d   Ikeda, Tadashi e   Jinno, Hiromitsu e   Kitajima, Masaki e   Aoki, Daisuke e   Hirasawa, Akira e   Takeda, Yuko e,f   Yazaki, Kumiko f   Fukutomi, Takashi g,l   Kinoshita, Takayuki g   more..


Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 54949127524     PISSN: 13479032     EISSN: 13497006     Source Type: Journal    
DOI: 10.1111/j.1349-7006.2008.00944.x     Document Type: Article
Times cited : (70)

References (28)
  • 2
    • 0035960431 scopus 로고    scopus 로고
    • Familial breast cancer: Collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease
    • Collaborative Group on Hormonal Factors in Breast Cancer
    • Collaborative Group on Hormonal Factors in Breast Cancer. Familial breast cancer: Collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet 2001; 358: 1389-99.
    • (2001) Lancet , vol.358 , pp. 1389-1399
  • 3
    • 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, 1994; 266: 66-71.
    • (1994) Science , vol.266 , pp. 66-71
    • Miki, Y.1    Swensen, J.2    Shattuck-Eidens, D.3
  • 4
    • 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 1995; 378: 789-92.
    • (1995) Nature , vol.378 , pp. 789-792
    • Wooster, R.1    Bignell, G.2    Lancaster, J.3
  • 5
    • 0034909194 scopus 로고    scopus 로고
    • Identifying and managing hereditary risk of breast and ovarian cancer
    • Frank TS, Critchfield GC. Identifying and managing hereditary risk of breast and ovarian cancer. Clin Perinatol 2001; 28: 395-406.
    • (2001) Clin Perinatol , vol.28 , pp. 395-406
    • Frank, T.S.1    Critchfield, G.C.2
  • 6
    • 0037087536 scopus 로고    scopus 로고
    • Clinical characteristics of individuals with germline mutations in BRCA 1 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: 1480-90.
    • (2002) J Clin Oncol , vol.20 , pp. 1480-1490
    • Frank, T.S.1    Deffenbaugh, A.M.2    Reid, J.E.3
  • 8
    • 19144373765 scopus 로고    scopus 로고
    • Mutations in the BRCA1 gene in Japanese breast cancer patients
    • Katagiri T, Emi M, Ito I et al. Mutations in the BRCA1 gene in Japanese breast cancer patients. Hum Mutat 1996; 7: 334-9.
    • (1996) Hum Mutat , vol.7 , pp. 334-339
    • Katagiri, T.1    Emi, M.2    Ito, I.3
  • 9
    • 0033562652 scopus 로고    scopus 로고
    • Clinicopathologic analysis of BRCA1- or BRCA2-associated hereditary breast carcinoma in Japanese women
    • Noguchi S, Kasugai T, Miki Y, Fukutomi T, Emi M, Nomizu T. Clinicopathologic analysis of BRCA1- or BRCA2-associated hereditary breast carcinoma in Japanese women. Cancer 1999; 85: 2200-5.
    • (1999) Cancer , vol.85 , pp. 2200-2205
    • Noguchi, S.1    Kasugai, T.2    Miki, Y.3    Fukutomi, T.4    Emi, M.5    Nomizu, T.6
  • 10
    • 0035203330 scopus 로고    scopus 로고
    • Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families
    • Ikeda N, Miyoshi Y, Yoneda K et al. Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. Int J Cancer 2001; 91: 83-8.
    • (2001) Int J Cancer , vol.91 , pp. 83-88
    • Ikeda, N.1    Miyoshi, Y.2    Yoneda, K.3
  • 11
    • 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: 3144-50.
    • (2001) Clin Cancer Res , vol.7 , pp. 3144-3150
    • Sekine, M.1    Nagata, H.2    Tsuji, S.3
  • 12
    • 3843065378 scopus 로고    scopus 로고
    • Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families
    • Kawahara M, Sakayori M, Shiraishi K et al. Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families. J Hum Genet 2004; 49: 391-5.
    • (2004) J Hum Genet , vol.49 , pp. 391-395
    • Kawahara, M.1    Sakayori, M.2    Shiraishi, K.3
  • 13
    • 0033866487 scopus 로고    scopus 로고
    • The breast cancer information core; database design, structure, and scope
    • Szabo C, Masiello A, Ryan JF, Brody LC. The breast cancer information core; database design, structure, and scope. Hum Mutat 2000; 16: 123-31.
    • (2000) Hum Mutat , vol.16 , pp. 123-131
    • Szabo, C.1    Masiello, A.2    Ryan, J.F.3    Brody, L.C.4
  • 14
    • 0037162115 scopus 로고    scopus 로고
    • Risk-reducing salpingo-oophorectomy (RRSO) in women with a BRCA1 or BRCA2 mutation
    • Kauff ND, Satagopan JM, Robson ME et al. Risk-reducing salpingo-oophorectomy (RRSO) in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2002; 346: 1609-15.
    • (2002) N Engl J Med , vol.346 , pp. 1609-1615
    • Kauff, N.D.1    Satagopan, J.M.2    Robson, M.E.3
  • 15
    • 33845582890 scopus 로고    scopus 로고
    • Association between clinical characteristics and risk-reduction interventions in women who underwent BRCA1 and BRCA2 testing: A single-institution study
    • Uyei A, Peterson SK, Erlichman J et al. Association between clinical characteristics and risk-reduction interventions in women who underwent BRCA1 and BRCA2 testing: A single-institution study. Cancer 2006; 107: 2745-51.
    • (2006) Cancer , vol.107 , pp. 2745-2751
    • Uyei, A.1    Peterson, S.K.2    Erlichman, J.3
  • 16
    • 2942739225 scopus 로고    scopus 로고
    • Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers
    • Metcalfe K, Lynch HT, Ghadirian P et al. Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2004; 22:2328-35.
    • (2004) J Clin Oncol , vol.22 , pp. 2328-2335
    • Metcalfe, K.1    Lynch, H.T.2    Ghadirian, P.3
  • 17
    • 33845680235 scopus 로고    scopus 로고
    • Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: A case-control study
    • McLaughlin JR, Risch HA, Lubinski J et al. Hereditary Ovarian Cancer Clinical Study Group. Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: A case-control study. Lancet Oncol 2007; 8: 26-34.
    • (2007) Lancet Oncol , vol.8 , pp. 26-34
    • McLaughlin, J.R.1    Risch, H.A.2    Lubinski, J.3
  • 18
    • 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: 341-5.
    • (1997) Nat Genet , vol.17 , pp. 341-345
    • Petrij-Bosch, A.1    Peelen, T.2    van Vliet, M.3
  • 19
    • 0033909581 scopus 로고    scopus 로고
    • The Exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse population
    • The BRCA1 Exon 13 Duplication Screening Group
    • The BRCA1 Exon 13 Duplication Screening Group. The Exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse population. Am J Hum Gen 2000; 67: 207-12.
    • (2000) Am J Hum Gen , vol.67 , pp. 207-212
  • 20
    • 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: 300-7.
    • (2000) Genes Chromosomes Cancer , vol.28 , pp. 300-307
    • Rohlfs, E.M.1    Puget, N.2    Graham, M.L.3
  • 21
    • 14644435051 scopus 로고    scopus 로고
    • A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer sets
    • Ward BD, Hendrickson BC, Judkins T et al. A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer sets. J Mol Diagn 2005; 7: 139-42.
    • (2005) J Mol Diagn , vol.7 , pp. 139-142
    • Ward, B.D.1    Hendrickson, B.C.2    Judkins, T.3
  • 22
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations
    • and the Nomenclature Working Group
    • Antonarakis SE and the Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations. Hum Mutat, 1998; 11: 1-3.
    • (1998) Hum Mutat , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 24
    • 5044227573 scopus 로고    scopus 로고
    • Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
    • Bunyan DJ, Eccles DM, Sillibourne J et al. Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer 2004; 9: 1155-9.
    • (2004) Br J Cancer , vol.9 , pp. 1155-1159
    • Bunyan, D.J.1    Eccles, D.M.2    Sillibourne, J.3
  • 25
    • 84959801619 scopus 로고
    • Statistical aspects of the analysis of data from retrospective studies of disease
    • Mantel N, Haenszel W. Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst 1959; 22: 719-48.
    • (1959) J Natl Cancer Inst , vol.22 , pp. 719-748
    • Mantel, N.1    Haenszel, W.2
  • 26
    • 0034644185 scopus 로고    scopus 로고
    • Environmental and heritable factors in the causation of cancer - Analyses of cohorts of twins from Sweden, Denmark, and Finland
    • Lichtenstein P, Holm NV, Verkasalo PK et al. Environmental and heritable factors in the causation of cancer - analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 2000; 343: 78-85.
    • (2000) N Engl J Med , vol.343 , pp. 78-85
    • Lichtenstein, P.1    Holm, N.V.2    Verkasalo, P.K.3
  • 27
    • 37549036689 scopus 로고    scopus 로고
    • Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups
    • John EM, Miron A, Gong G et al. Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA 2007; 298: 2869-76.
    • (2007) JAMA , vol.298 , pp. 2869-2876
    • John, E.M.1    Miron, A.2    Gong, G.3
  • 28
    • 41949122765 scopus 로고    scopus 로고
    • Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: The Hereditary Breast Cancer Clinical Study Group
    • Metcalfe KA, Lubinski J, Ghadirian P et al. Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: The Hereditary Breast Cancer Clinical Study Group. J Clin Oncol 2008; 26: 1093-7.
    • (2008) J Clin Oncol , vol.26 , pp. 1093-1097
    • Metcalfe, K.A.1    Lubinski, J.2    Ghadirian, P.3


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