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Volumn 11, Issue 4, 1995, Pages 428-433

Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BREAST CANCER; CANCER INCIDENCE; CANCER RISK; GENE LOCATION; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; GERM LINE; HAPLOTYPE; HUMAN; HUMAN CELL; MULTIGENE FAMILY; OVARY CANCER; PHENOTYPE; PRIORITY JOURNAL;

EID: 0028844202     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1295-428     Document Type: Article
Times cited : (470)

References (21)
  • 1
    • 0000006402 scopus 로고
    • The Breast Cancer Linkage Consortium, Genetic linkage analysis in familial breast and ovarian cancer
    • Easton, D. F. Bishop, D. T., Ford, D., Cockford, G. P. and the Breast Cancer Linkage Consortium, Genetic linkage analysis in familial breast and ovarian cancer. Am. J. hum. Genet. 52, 718-722 (1993).
    • (1993) Am. J. hum. Genet , vol.52 , pp. 718-722
    • Easton, D.F.1    Bishop, D.T.2    Ford, D.3    Cockford, G.P.4
  • 3
    • 0026935108 scopus 로고
    • Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome
    • Smith, SA, Easton, D. F., Evans, D. G. R. & Ponder, B AJ. Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome. Nature Genet. 2, 128-131 (1992).
    • (1992) Nature Genet , vol.2 , pp. 128-131
    • Smith, S.A.1    Easton, D.F.2    Evans, D.G.R.3    Ponder, B.A.J.4
  • 4
    • 0028113345 scopus 로고
    • A strong candidate for the breast and ovarian cancer susceptibility gene
    • Miki, Y. et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 288, 66-71 (1994).
    • (1994) BRCA1. Science , vol.288 , pp. 66-71
    • Miki, Y.1
  • 5
    • 0028073794 scopus 로고
    • BRCA1 mutations in primary breast and ovarian carcinomas
    • Futreal, PA et al. BRCA1 mutations in primary breast and ovarian carcinomas. Science 266, 120-122 (1994).
    • (1994) Science , vol.266 , pp. 120-122
    • Futreal, P.A.1
  • 6
    • 0028148889 scopus 로고
    • Mutations in the BRCA1 in families with early onset breast and ovarian cancer
    • Castilla, L. et al. Mutations in the BRCA1 in families with early onset breast and ovarian cancer. Nature Genet. 8, 387-391 (1994).
    • (1994) Nature Genet , vol.8 , pp. 387-391
    • Castilla, L.1
  • 7
    • 0027939506 scopus 로고
    • Common origin of BRCA 1 mutations in Canadian breast and ovarian cancer families
    • Simard, J. et al. Common origin of BRCA 1 mutations in Canadian breast and ovarian cancer families. Nature Genet. 8, 392-398 (1994).
    • (1994) Nature Genet , vol.8 , pp. 392-398
    • Simard, J.1
  • 8
    • 0028034348 scopus 로고
    • Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families
    • Friedman, L. S. et al. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nature Genet 8, 399-404(1994).
    • (1994) Nature Genet , vol.8 , pp. 399-404
    • Friedman, L.S.1
  • 9
    • 0028834145 scopus 로고
    • A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene
    • Shattuck-Eidens, D. et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. J. Am. med. Assoc. 273, 535-541 (1995).
    • (1995) J. Am. med. Assoc , vol.273 , pp. 535-541
    • Shattuck-Eidens, D.1
  • 10
    • 0029034155 scopus 로고
    • Rapid detection of BRCA1 mutations by the protein truncation test
    • Hogervorst, F. B. L et al. Rapid detection of BRCA1 mutations by the protein truncation test. Nature Genet 10, 208-212 (1995).
    • (1995) Nature Genet , vol.10 , pp. 208-212
    • Hogervorst, F.B.L.1
  • 11
    • 0028981764 scopus 로고
    • Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer
    • Strvewing, J. P. et al. Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am. J. hum. Genet 57, 1-7 (1995).
    • (1995) Am. J. hum. Genet , vol.57 , pp. 1-7
    • Strvewing, J.P.1
  • 12
    • 0029050356 scopus 로고
    • BRCA1 mutations in Ashkenazi Jewish women
    • Tonin, P. et al. BRCA1 mutations in Ashkenazi Jewish women. Am. J. hum. Genet 57, 189(1995).
    • (1995) Am. J. hum. Genet , vol.57 , pp. 189
    • Tonin, P.1
  • 13
    • 0029083814 scopus 로고
    • The earner frequency of the BRCA1185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
    • Streuwing, J. P. et al. The earner frequency of the BRCA1185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature Genet. 11, 198-200(1995).
    • (1995) Nature Genet , vol.11 , pp. 198-200
    • Streuwing, J.P.1
  • 14
    • 0027093283 scopus 로고
    • High frequency mutagenesis by a DNA methyttransfefase
    • Shen, J. C., Rideout, W. M. Ill & Jones, PA. High frequency mutagenesis by a DNA methyttransfefase. Cell 71, 1073-1080(1992).
    • (1992) Cell , vol.71 , pp. 1073-1080
    • Shen, J.C.1    Rideout, W.M.2    Jones, P.A.3
  • 15
    • 0028006563 scopus 로고
    • Localisation of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13
    • Wooster, R. et al. Localisation of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265, 2088-2090 (1994).
    • (1994) Science , vol.265 , pp. 2088-2090
    • Wooster, R.1
  • 16
    • 0028885339 scopus 로고
    • An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families
    • Narod, S. et al. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Am. J. hum. Genet. 56, 254-264 (1995).
    • (1995) Am. J. hum. Genet , vol.56 , pp. 254-264
    • Narod, S.1
  • 17
    • 0028073532 scopus 로고
    • Familial site-specific ovarian cancer is linked to BRCA 1 on chromosome 17q12-21
    • Steichen-Gersdorf, E. et al. Familial site-specific ovarian cancer is linked to BRCA 1 on chromosome 17q12-21. Am. J. hum. Genet. 55, 870-875 (1994).
    • (1994) Am. J. hum. Genet , vol.55 , pp. 870-875
    • Steichen-Gersdorf, E.1
  • 18
    • 0026446099 scopus 로고
    • A second generation linkage map of the human genome
    • Weissenbach, J. et al. A second generation linkage map of the human genome. Nature 359, 794-801 (1992).
    • (1992) Nature , vol.359 , pp. 794-801
    • Weissenbach, J.1
  • 19
    • 84993859259 scopus 로고
    • A P1-based physical map of the BRCA1 region from D17S766 to
    • Neuhausen, S. L. et al. A P1-based physical map of the BRCA1 region from D17S766 to DI 7S78. Hum. molec. Genet 3, 1919-1926 (1995).
    • (1995) DI 7S78. Hum. molec. Genet , vol.3 , pp. 1919-1926
    • Neuhausen, S.L.1
  • 20
    • 0027954465 scopus 로고
    • A large kindred with 17q-linked breast and ovarian cancer genetic, phenotypic and genealogic analysis
    • Goldgar, D. E. et al. A large kindred with 17q-linked breast and ovarian cancer genetic, phenotypic and genealogic analysis. J. natnl. Cancer Inst. 86, 200-209(1994).
    • (1994) J. natnl. Cancer Inst , vol.86 , pp. 200-209
    • Goldgar, D.E.1
  • 21
    • 0027295745 scopus 로고
    • A suggested nomenclature for designating mutations
    • Beaudet, AL. & Tsui, L-C. A suggested nomenclature for designating mutations. Hum. Mut. 2, 245-248 (1989).
    • (1989) Hum. Mut , vol.2 , pp. 245-248
    • Beaudet, A.L.1    Tsui, L.-C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.