메뉴 건너뛰기




Volumn 11, Issue 2, 1995, Pages 198-200

The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BREAST CANCER; CANCER GENETICS; CANCER RISK; GENE MUTATION; GENETIC RISK; HETEROZYGOTE DETECTION; HUMAN; JEW; OVARY CANCER; PRIORITY JOURNAL;

EID: 0029083814     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1095-198     Document Type: Article
Times cited : (608)

References (35)
  • 1
    • 0028113345 scopus 로고
    • A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
    • Miki, Y. 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
  • 2
    • 0028073794 scopus 로고
    • BRCA1 mutations in primary breast and ovarian carcinomas
    • Futreal, P.A. 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
  • 3
    • 0028148889 scopus 로고
    • Mutations in the BRCAl gene in families with early-onset breast and ovarian cancer
    • Castilla, L.H. et al. Mutations in the BRCAl gene 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.H.1
  • 4
    • 0027939506 scopus 로고
    • Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families
    • Simard, J. et al. Common origins of BRCA1 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
  • 5
    • 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
  • 6
    • 0028834145 scopus 로고
    • A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening
    • Shattuck-Eidens, D. et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. J. Am. med. Assoc. 273, 535-541 (1995).
    • (1995) J. Am. med. Assoc. , vol.273 , pp. 535-541
    • Shattuck-Eidens, D.1
  • 7
    • 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
  • 8
    • 0028981764 scopus 로고
    • Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including one family with male breast cancer
    • Struewing, J.P. et al. Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including one family with male breast cancer. Am. J. hum. Genet. 57, 1-7 (1995).
    • (1995) Am. J. hum. Genet. , vol.57 , pp. 1-7
    • Struewing, J.P.1
  • 9
    • 0029009749 scopus 로고
    • Mutation analysis of the BRCA1 gene in ovarian cancers
    • Takahashi, H. et al. Mutation analysis of the BRCA1 gene in ovarian cancers. Cancer Res. 56, 2998-3002 (1995).
    • (1995) Cancer Res. , vol.56 , pp. 2998-3002
    • Takahashi, H.1
  • 10
    • 0029156036 scopus 로고
    • Germline mutation of BRCA1 in Japanese breast cancer families
    • Inoue, R. et al. Germline mutation of BRCA1 in Japanese breast cancer families. Cancer Res. 55, 3521-3524 (1995).
    • (1995) Cancer Res. , vol.55 , pp. 3521-3524
    • Inoue, R.1
  • 11
    • 0027433563 scopus 로고
    • Genetic linkage analysis in familial breast and ovarian cancer: Results from 214 families
    • Easton, D.F. et al. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am. J. hum. Genet. 52, 678-701 (1993).
    • (1993) Am. J. hum. Genet. , vol.52 , pp. 678-701
    • Easton, D.F.1
  • 12
    • 0028330276 scopus 로고
    • Breast Cancer Linkage Consortium. Risks of cancer in BRCA1-mutation carriers
    • Ford, D., Easton, D.F., Bishop, D.T., Narod, S.A. & Goldgar, D.E. and the Breast Cancer Linkage Consortium. Risks of cancer in BRCA1-mutation carriers. Lancet 343, 692-695 (1994).
    • (1994) Lancet , vol.343 , pp. 692-695
    • Ford, D.1    Easton, D.F.2    Bishop, D.T.3    Narod, S.A.4    Goldgar, D.E.5
  • 13
    • 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
  • 16
    • 0026092912 scopus 로고
    • Genetic ananlysis of breast cancer in the Cancer and Steroid Hormone Study
    • Claus, E.B., Risch, N. & Thompson, W.D. Genetic ananlysis of breast cancer in the Cancer and Steroid Hormone Study. Am. J. hum. Genet. 48, 232-242 (1991).
    • (1991) Am. J. hum. Genet. , vol.48 , pp. 232-242
    • Claus, E.B.1    Risch, N.2    Thompson, W.D.3
  • 17
    • 2742525287 scopus 로고
    • Inheritance of human breast cancer: Evidence for autosomal dominant transmission in high-risk families
    • Newman, B., Austin, M.A., Lee, M. & King, M.C. Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. Proc. natn. Acad. Sci. U.S.A. 85, 3044-3048 (1988).
    • (1988) Proc. natn. Acad. Sci. U.S.A. , vol.85 , pp. 3044-3048
    • Newman, B.1    Austin, M.A.2    Lee, M.3    King, M.C.4
  • 18
    • 0028885339 scopus 로고
    • An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium
    • Narod, S.A. et al. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium. Am. J. hum. Genet. 56, 254-264 (1995).
    • (1995) Am. J. hum. Genet. , vol.56 , pp. 254-264
    • Narod, S.A.1
  • 19
    • 0019780353 scopus 로고
    • Exogenous estrogens and otherfactors in the epidemiology of breast cancer
    • Kelsey, J.L. et al. Exogenous estrogens and otherfactors in the epidemiology of breast cancer. J. natn. Cancer Inst. 67, 327-333 (1981).
    • (1981) J. natn. Cancer Inst. , vol.67 , pp. 327-333
    • Kelsey, J.L.1
  • 20
    • 0025653916 scopus 로고
    • The Israeli breast-cancer anomaly
    • Westin, J.B. & Richter, E., The Israeli breast-cancer anomaly. Ann. N. Y. Acad. Sci. 609, 269-79 (1990).
    • (1990) Ann. N. Y. Acad. Sci. , vol.609 , pp. 269-279
    • Westin, J.B.1    Richter, E.2
  • 21
    • 0029248868 scopus 로고
    • Jewish diseases and origins
    • Motulsky, A.G. Jewish diseases and origins. Nature Genet. 9, 99-101 (1995).
    • (1995) Nature Genet. , vol.9 , pp. 99-101
    • Motulsky, A.G.1
  • 22
    • 0029115660 scopus 로고
    • The developmental pattern of Brcal expression implies a role in differentiation of the breast and other tissues
    • Marquis, S.T. et al. The developmental pattern of Brcal expression implies a role in differentiation of the breast and other tissues. Nature Genet. 11, 17-26 (1995).
    • (1995) Nature Genet. , vol.11 , pp. 17-26
    • Marquis, S.T.1
  • 23
    • 0028819262 scopus 로고
    • Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
    • Risch, N. et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nature Genet. 9, 152-159 (1995).
    • (1995) Nature Genet. , vol.9 , pp. 152-159
    • Risch, N.1
  • 24
    • 0003987981 scopus 로고
    • (eds Andrews, L.B., Fullarton, J.E., Holtzman, N.A., Motulsky, A.G.) (National Academy Press, Washington, D.C.)
    • Assessing Genetic Risks: Implications for Health and Policy (eds Andrews, L. B., Fullarton, J. E., Holtzman, N. A., Motulsky, A. G.) (National Academy Press, Washington, D.C., 1994).
    • (1994) Assessing Genetic Risks: Implications for Health and Policy
  • 25
    • 0027465404 scopus 로고
    • Genetic counseling for families with inherited susceptibility to breast and ovarian cancer
    • Biesecker, B.B. et al. Genetic counseling for families with inherited susceptibility to breast and ovarian cancer. J. Am. med. Assoc. 269, 1970-1974 (1993).
    • (1993) J. Am. med. Assoc. , vol.269 , pp. 1970-1974
    • Biesecker, B.B.1
  • 26
    • 23444445336 scopus 로고
    • National Center for Human Genome Research. Statement on use of DNA testing for presymptomatic identification of cancer risk
    • National Center for Human Genome Research. Statement on use of DNA testing for presymptomatic identification of cancer risk. J. Am. med. Assoc. 271, 785 (1994).
    • (1994) J. Am. med. Assoc. , vol.271 , pp. 785
  • 28
    • 23444445336 scopus 로고
    • Statement on use of DNA testing for presymptomatic identification of cancer risk
    • National Advisory Council for Human Genome Research. Statement on use of DNA testing for presymptomatic identification of cancer risk. J. Am. med. Assoc. 71, 785 (1994).
    • (1994) J. Am. med. Assoc. , vol.71 , pp. 785
    • National Advisory Council for Human Genome Research1
  • 29
    • 84966173406 scopus 로고
    • Statement of the American Society of Human Genetics on genetic testing for breast and ovarian cancer predisposition
    • Statement of the American Society of Human Genetics on genetic testing for breast and ovarian cancer predisposition. Am. J. hum. Genet. 55, i-iv (1994).
    • (1994) Am. J. hum. Genet. , vol.55 , pp. i-iv
  • 30
    • 0028814530 scopus 로고
    • Assessment and counseling for women with a family history of breast cancer. A guide for clinicians
    • Hoskins, K.F. et al. Assessment and counseling for women with a family history of breast cancer. A guide for clinicians. J. Am. med. Assoc. 273, 577-585 (1995).
    • (1995) J. Am. med. Assoc. , vol.273 , pp. 577-585
    • Hoskins, K.F.1
  • 31
    • 0005713877 scopus 로고
    • (Bonne-Tamir & Adam, A.) (Oxford University Press,.)
    • DelPergola, S. in Genetic Diversity Among the Jews. (eds Bonne-Tamir & Adam, A.) 3-30 (Oxford University Press, 1992).
    • (1992) Genetic Diversity Among the Jews , pp. 3-30
    • DelPergola, S.1
  • 32
    • 0027412471 scopus 로고
    • A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease)
    • Raben, N., Sherman, J., Miller, F., Mena, H. & Plotz, P. A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). J. Biol. Chem 268, 4963-4967 (1993).
    • (1993) J. Biol. Chem , vol.268 , pp. 4963-4967
    • Raben, N.1    Sherman, J.2    Miller, F.3    Mena, H.4    Plotz, P.5
  • 33
    • 77951509701 scopus 로고
    • The ratio of spontaneous mutation of a human gene
    • Haldane, J.B.S. The ratio of spontaneous mutation of a human gene. J. Genet. 31, 317-326 (1935).
    • (1935) J. Genet. , vol.31 , pp. 317-326
    • Haldane, J.B.S.1
  • 34
    • 0027285606 scopus 로고
    • The lifetime risk of developing breast cancer
    • Feuer, E.J. et al. The lifetime risk of developing breast cancer. J. natn. Cancer Inst. 85, 892-897 (1993).
    • (1993) J. natn. Cancer Inst. , vol.85 , pp. 892-897
    • Feuer, E.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.