메뉴 건너뛰기




Volumn 35, Issue 2, 1998, Pages 116-121

Using gene carrier probability to select high risk families for identifying germline mutations in breast cancer susceptibility genes

Author keywords

Cancer risks; Hereditary breast cancer; Pedigree

Indexed keywords

BRCA1 PROTEIN; DNA;

EID: 0031971484     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.2.116     Document Type: Article
Times cited : (14)

References (38)
  • 2
    • 0028113345 scopus 로고
    • A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
    • Mild 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
    • Mild, Y.1    Swensen, J.2    Shattuck-Eidens, D.3
  • 3
    • 0006713602 scopus 로고
    • Identification of the breast cancer susceptibility gene BRCA2
    • Vooster 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
    • Vooster, R.1    Bignell, G.2    Lancaster, J.3
  • 4
    • 13344269668 scopus 로고    scopus 로고
    • The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds
    • Tavtigian SV, Simard J, Rommens J, et al. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet 1996;12:333-7.
    • (1996) Nat Genet , vol.12 , pp. 333-337
    • Tavtigian, S.V.1    Simard, J.2    Rommens, J.3
  • 5
    • 0028826709 scopus 로고
    • Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence
    • Ford D, Hasten DF, Peto J. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet 1995;57:1457-62.
    • (1995) Am J Hum Genet , vol.57 , pp. 1457-1462
    • Ford, D.1    Hasten, D.F.2    Peto, J.3
  • 7
    • 0029834450 scopus 로고    scopus 로고
    • Recent advances in understanding of genetic susceptibility to breast cancer
    • Stratton MR. Recent advances in understanding of genetic susceptibility to breast cancer. Hum Mol Genet 1996;5: 1515-19.
    • (1996) Hum Mol Genet , vol.5 , pp. 1515-1519
    • Stratton, M.R.1
  • 8
    • 0027433563 scopus 로고
    • Genetic linkage analysis in familial breast and ovarian cancer: Results from 214 families
    • Easton DF, Bishop DT, Ford D, Crockford GP, and the Breast Cancer Linkage Consortium. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am J Hum Genet 1993;52:678-701.
    • (1993) Am J Hum Genet , vol.52 , pp. 678-701
    • Easton, D.F.1    Bishop, D.T.2    Ford, D.3    Crockford, G.P.4    Consortium, T..B.C.L.5
  • 9
    • 0028885339 scopus 로고
    • An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families
    • Narod SA, Ford D, Devilee P, et al and Breast Cancer Linkage Consortium. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Am J Hum Genet 1995; 56:254-64.
    • (1995) Am J Hum Genet , vol.56 , pp. 254-264
    • Narod, S.A.1    Ford, D.2    Devilee, P.3    Consortium, B.C.L.4
  • 10
    • 0028073532 scopus 로고
    • Familial site-specific ovarian cancer is linked to BRCA1 on 17ql221
    • Steichen-Gersdorf E, Gallion HH, Ford D, et al. Familial site-specific ovarian cancer is linked to BRCA1 on 17ql221. Am J Hum Genet 1994;55:870-5.
    • (1994) Am J Hum Genet , vol.55 , pp. 870-875
    • Steichen-Gersdorf, E.1    Gallion, H.H.2    Ford, D.3
  • 11
    • 0030139524 scopus 로고    scopus 로고
    • BRCA2 germline mutations in male breast cancer cases and breast cancer families
    • Couch FJ, Farid LM, de Shano ML, et al. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet 1996;13:123-5.
    • (1996) Nat Genet , vol.13 , pp. 123-125
    • Couch, F.J.1    Farid, L.M.2    De Shano, M.L.3
  • 12
    • 0029980129 scopus 로고    scopus 로고
    • Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1): Gene
    • Couch FJ, Veber BL. Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1): gene. Breast Cancer Information Core. Hum Mutât 1996;8:8-18.
    • (1996) Breast Cancer Information Core. Hum Mutât , vol.8 , pp. 8-18
    • Bl, C.F.J.1
  • 13
    • 0030137718 scopus 로고    scopus 로고
    • Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families
    • Phelan CM, Lancaster JM, Tonin P, et al. Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nat Genet 1996;13:120-2.
    • (1996) Nat Genet , vol.13 , pp. 120-122
    • Phelan, C.M.1    Lancaster, J.M.2    Tonin, P.3
  • 14
    • 0028148889 scopus 로고
    • Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer
    • Castilla LH, Couch FJ, Erdos MR, et al. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat Genet 1994;8:387-91.
    • (1994) Nat Genet , vol.8 , pp. 387-391
    • Castilla, L.H.1    Couch, F.J.2    Erdos, M.R.3
  • 15
    • 0028034348 scopus 로고
    • Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families
    • Friedman LS, Ostermeyer EA, Szabo CI, et al. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet 1994; 8:399-404.
    • (1994) Nat Genet , vol.8 , pp. 399-404
    • Friedman, L.S.1    Ostermeyer, E.A.2    Szabo, C.I.3
  • 16
    • 0029655346 scopus 로고    scopus 로고
    • A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families
    • Serova O, Montagna Ai, Torchard D, et al. A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. Am J Hum Genet 1996;58:42-51.
    • (1996) Am J Hum Genet , vol.58 , pp. 42-51
    • Serova, O.1    Ai, M.2    Torchard, D.3
  • 17
    • 0029819184 scopus 로고    scopus 로고
    • The majority of 22 Dutch high-risk breast cancer families are due to either BRCA1 or BRCA2
    • Peelen T, Cornells RS, van Vliet M, et al. The majority of 22 Dutch high-risk breast cancer families are due to either BRCA1 or BRCA2. Ear J Hum Genet 1996;4:225-30.
    • (1996) Ear J Hum Genet , vol.4 , pp. 225-230
    • Peelen, T.1    Cornells, R.S.2    Van Vliet, M.3
  • 18
    • 0029083814 scopus 로고
    • The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
    • Struewing JP, Abeliovich D, Peretz T, et al. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 1995;11:198-200.
    • (1995) Nat Genet , vol.11 , pp. 198-200
    • Struewing, J.P.1    Abeliovich, D.2    Peretz, T.3
  • 20
    • 19144364122 scopus 로고    scopus 로고
    • Founding BRCA1 mutations in hereditary breast and ovarian cancer in Southern Sweden
    • Johannsson O, Ostermeyer EA, Hâkansson S, a al. Founding BRCA1 mutations in hereditary breast and ovarian cancer in Southern Sweden. Am J Hum Genet 1996;58: 441-50.
    • (1996) Am J Hum Genet , vol.58 , pp. 441-450
    • Johannsson, O.1    Ostermeyer, E.A.2    Hâkansson, S.3    Al, A.4
  • 21
    • 9444248601 scopus 로고    scopus 로고
    • High prevalence of the 999del5 mutation in Icelandic breast and ovarian cancer patients
    • Johannesdottir G, Gudmundsson J, Bergthorsson JT, et al. High prevalence of the 999del5 mutation in Icelandic breast and ovarian cancer patients. Cancer Res 1996;S6: 3663-5.
    • (1996) Cancer Res , vol.6 , pp. 3663-3665
    • Johannesdottir, G.1    Gudmundsson, J.2    Bergthorsson, J.T.3
  • 22
    • 0030138354 scopus 로고    scopus 로고
    • Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer
    • Neuhausen S, Gilewski T, Norton L, et al. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet 1996;13:126-8.
    • (1996) Nat Genet , vol.13 , pp. 126-128
    • Neuhausen, S.1    Gilewski, T.2    Norton, L.3
  • 23
    • 0030140026 scopus 로고    scopus 로고
    • A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes
    • Thorlacius S, Olafsdortir G, Tryggvadottir L, et al. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet 1996;13:117-19.
    • (1996) Nat Genet , vol.13 , pp. 117-119
    • Thorlacius, S.1    Olafsdortir, G.2    Tryggvadottir, L.3
  • 26
    • 0027433113 scopus 로고
    • Confirmation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DANN fragments: Evidence for solvent-induced bends in DANN heteroduplexes (published erratum appears in Proc Nad Acad Sei USA 1994;91:5217)
    • Ganguly A, Rock MJ, Prockop DJ. Confirmation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DANN fragments: evidence for solvent-induced bends in DANN heteroduplexes (published erratum appears in Proc Nad Acad Sei USA 1994;91:5217). Proc Nat! Acad Sei USA 1993;90:10325-9.
    • (1993) Proc Nat! Acad Sei USA , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 29
    • 0026092912 scopus 로고
    • Genetic analysis of breast cancer in the cancer and steroid hormone study
    • Claus EB, Risch N, Thompson VD. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am JHum Genet 1991;48:232-42.
    • (1991) Am JHum Genet , vol.48 , pp. 232-242
    • Claus, E.B.1    Risch, N.2    Lvd, T.3
  • 31
    • 33749719856 scopus 로고    scopus 로고
    • Breast cancer risk assessment: Use of complete pedigree information and the effect of misspecified ages at diagnosis of affected relatives
    • Schmidt S, Becher H, Chang-Claude J. Breast cancer risk assessment: use of complete pedigree information and the effect of misspecified ages at diagnosis of affected relatives. Hum Genet (in press.)
    • Hum Genet (In Press.)
    • Schmidt, S.1    Becher, H.2    Chang-Claude, J.3
  • 32
    • 0029028657 scopus 로고
    • Genetic counseling in breast cancer: Sensitivity to parameter values and to available information
    • Margarittc-Jeannin P, Essioux L, Bonaiti-Pellié C, ClergetDarpoux F. Genetic counseling in breast cancer: sensitivity to parameter values and to available information. Ann Genet 1995;38:19-25.
    • (1995) Ann Genet , vol.38 , pp. 19-25
    • Margarittc-Jeannin, P.1    Essioux, L.2    Bonaiti-Pellié, C.3    Clergetdarpoux, F.4
  • 34
    • 0029680501 scopus 로고    scopus 로고
    • A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals
    • Berman DB, Costalas J, Schultz DC, Grana G, Daly M, Godwin AK. A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals. Cancer Res 1996;S6: 3409-14.
    • (1996) Cancer Res , vol.6 , pp. 3409-3414
    • Berman, D.B.1    Costalas, J.2    Schultz, D.C.3    Grana, G.4    Daly, M.5    Godwin, A.K.6
  • 35
    • 0028819984 scopus 로고
    • Different tumor types from BRCA2 carriers show wildtype chromosome deletions on 13ql2-ql3
    • Gudmundsson J, Johannesdottir G, Bergthprsson JT, et al. Different tumor types from BRCA2 carriers show wildtype chromosome deletions on 13ql2-ql3. Cancer Res 1995;5S:4830-2.
    • (1995) Cancer Res , vol.5 , pp. 4830-4832
    • Gudmundsson, J.1    Johannesdottir, G.2    Bergthprsson, J.T.3
  • 36
    • 12644253827 scopus 로고    scopus 로고
    • Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas
    • Goggins M, Schutte M, Lu J, et al. Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res 1996;56:5360-4.
    • (1996) Cancer Res , vol.56 , pp. 5360-5364
    • Goggins, M.1    Schutte, M.2    Lu, J.3
  • 37
    • 0031029633 scopus 로고    scopus 로고
    • Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history
    • Berry DA, Parmigiani G, Sanchez J, Schildkraut J, Winer E. Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Nat! Cancer Insi 1997;89:227-38.
    • (1997) J Nat! Cancer Insi , vol.89 , pp. 227-238
    • Berry, D.A.1    Parmigiani, G.2    Sanchez, J.3    Schildkraut, J.4    Winer, E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.