메뉴 건너뛰기




Volumn 11, Issue 3, 2003, Pages 210-214

Italian family with two independent mutations: 3358T/A in BRCA1 and 8756delA in BRCA2 genes

Author keywords

BrCa1; BrCa2; Male breast cancer; Mutational analysis; Ovarian cancer

Indexed keywords

ADENINE; BRCA1 PROTEIN; BRCA2 PROTEIN; THYMINE;

EID: 0037368917     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200948     Document Type: Article
Times cited : (5)

References (20)
  • 1
    • 0030639333 scopus 로고    scopus 로고
    • A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2
    • [letter]
    • Ramus SJ, Friedman LS, Gayther SA et al: A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2 [letter]. Genet 1997; 15: 14-15.
    • (1997) Genet , vol.15 , pp. 14-15
    • Ramus, S.J.1    Friedman, L.S.2    Gayther, S.A.3
  • 2
    • 0031712163 scopus 로고    scopus 로고
    • A family with three germline mutations in BRCA1 and BRCA2
    • Liede A, Metcalfe K, Offit K et al: A family with three germline mutations in BRCA1 and BRCA2. Clin Genet 1998; 54: 215-218.
    • (1998) Clin. Genet. , vol.54 , pp. 215-218
    • Liede, A.1    Metcalfe, K.2    Offit, K.3
  • 3
    • 0033358556 scopus 로고    scopus 로고
    • De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation
    • [letter]
    • Tesoriero A, Andersen C, Southey M et al: De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation [letter]. Am J Hum Genet 1999; 65: 567-569.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 567-569
    • Tesoriero, A.1    Andersen, C.2    Southey, M.3
  • 4
    • 0031263878 scopus 로고    scopus 로고
    • Co segregation of BRCA1 185delAG mutation and BRCA2 6174delT in one single family
    • Gershoni-Baruch R, Dagan E, Kepten I, Freid G: Co segregation of BRCA1 185delAG mutation and BRCA2 6174delT in one single family. Eur J Cancer 1997; 33: 2283-2284.
    • (1997) Eur. J. Cancer , vol.33 , pp. 2283-2284
    • Gershoni-Baruch, R.1    Dagan, E.2    Kepten, I.3    Freid, G.4
  • 5
    • 0032231918 scopus 로고    scopus 로고
    • Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes
    • Friedman E, Bar Sade Bruchim R, Kruglikova A et al: Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes. Am J Hum Genet 1998; 63: 1224-1227.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 1224-1227
    • Friedman, E.1    Bar Sade Bruchim, R.2    Kruglikova, A.3
  • 6
    • 0033970252 scopus 로고    scopus 로고
    • An unaffected individual from a breast/ovarian cancer family with germline mutations in both BRCA1 and BRCA2
    • Moslehi R, Russo D, Phelan C, Jack E, Antman K, Narod S: An unaffected individual from a breast/ovarian cancer family with germline mutations in both BRCA1 and BRCA2. Clin Genet 2000; 57: 70-73.
    • (2000) Clin. Genet. , vol.57 , pp. 70-73
    • Moslehi, R.1    Russo, D.2    Phelan, C.3    Jack, E.4    Antman, K.5    Narod, S.6
  • 7
    • 0035877027 scopus 로고    scopus 로고
    • Caucasian family with two independent mutations 2594delC in BRCA1 and 5392delAG in BRCA2
    • Ganguly A, Citron M, Godmilow L, Ahrens M, Ganguly T: Caucasian family with two independent mutations 2594delC in BRCA1 and 5392delAG in BRCA2. Am J Med Genet 2001; 101: 146-152.
    • (2001) Am. J. Med. Genet. , vol.101 , pp. 146-152
    • Ganguly, A.1    Citron, M.2    Godmilow, L.3    Ahrens, M.4    Ganguly, T.5
  • 9
    • 85057444884 scopus 로고    scopus 로고
    • A breast cancer patient of Scottish descent with germ line mutations in BRCA1 and BRCA2
    • Liede A, Rehal P, Vesprini D, Jack E, Abrahamson J, Narod SA: A breast cancer patient of Scottish descent with germ line mutations in BRCA1 and BRCA2. Am J Hum Genet 1998; 62: 1543-1544.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1543-1544
    • Liede, A.1    Rehal, P.2    Vesprini, D.3    Jack, E.4    Abrahamson, J.5    Narod, S.A.6
  • 10
    • 0035872860 scopus 로고    scopus 로고
    • Tumorigenesis in mice carrying a truncating Brca1 mutation
    • Ludwig T, Fisher P, Ganesan S, Efstratiadis A: Tumorigenesis in mice carrying a truncating Brca1 mutation. Genes Dev 2001; 15: 1188-1193.
    • (2001) Genes Dev. , vol.15 , pp. 1188-1193
    • Ludwig, T.1    Fisher, P.2    Ganesan, S.3    Efstratiadis, A.4
  • 11
    • 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
  • 12
    • 0033987956 scopus 로고    scopus 로고
    • Comparison between genotype and phenotype identifies a high risk population carrying BRCA1 mutations
    • Cortesi L, Turchetti D, Bertoni C et al: Comparison between genotype and phenotype identifies a high risk population carrying BRCA1 mutations. Genes Chromosomes Cancer 2000; 27: 130-135.
    • (2000) Genes Chromosomes Cancer , vol.27 , pp. 130-135
    • Cortesi, L.1    Turchetti, D.2    Bertoni, C.3
  • 13
    • 85176203131 scopus 로고    scopus 로고
    • Registro tumori della provincia di Modena
    • Zanetti R, Gafà L, Pannelli T, Conti R, Rosso S (Eds): Il Pensiero Scientifico Editore, Roma
    • Federico M: Registro tumori della provincia di Modena; in Zanetti R, Gafà L, Pannelli T, Conti R, Rosso S (Eds): Cancer in Italy: incidence data from cancer registries. Il Pensiero Scientifico Editore, Roma, 2002; Vol. III, pp. 309-319.
    • (2002) Cancer in Italy: Incidence Data from Cancer Registries , vol.3 , pp. 309-319
    • Federico, M.1
  • 14
    • 0030139524 scopus 로고    scopus 로고
    • BRCA2 germline mutations in male breast cancer cases and breast cancer families
    • Couch FJ, Farid LM, DeShano ML et al: BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet 1996; 13: 123-125.
    • (1996) Nat. Genet. , vol.13 , pp. 123-125
    • Couch, F.J.1    Farid, L.M.2    DeShano, M.L.3
  • 15
    • 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
  • 16
    • 0036123926 scopus 로고    scopus 로고
    • Variation in BRCA1 cancer risks by mutation position
    • Breast Cancer Linkage Consortium:
    • Thompson D, Easton D, Breast Cancer Linkage Consortium: Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev 2002; 11: 329-336.
    • (2002) Cancer Epidemiol. Biomarkers Prev. , vol.11 , pp. 329-336
    • Thompson, D.1    Easton, D.2
  • 17
    • 0032703874 scopus 로고    scopus 로고
    • Survival in hereditary breast cancer associated with germline mutations of BRCA2
    • Verhoog LC, Brekelmans CT, Seynaeve C et al: Survival in hereditary breast cancer associated with germline mutations of BRCA2. J Clin Oncol 1999; 17: 3396-3402.
    • (1999) J. Clin. Oncol. , vol.17 , pp. 3396-3402
    • Verhoog, L.C.1    Brekelmans, C.T.2    Seynaeve, C.3
  • 18
    • 0028844202 scopus 로고
    • Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation
    • Gayther SA, Warren W, Mazoyer S et al: Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet 1995; 11: 428-433.
    • (1995) Nat. Genet. , vol.11 , pp. 428-433
    • Gayther, S.A.1    Warren, W.2    Mazoyer, S.3
  • 19
    • 0029925529 scopus 로고    scopus 로고
    • Growth retardation and tumour inhibition by BRCA1
    • Holt JT, Thompson ME, Szabo C et al: Growth retardation and tumour inhibition by BRCA1. Nat Genet 1996; 12: 298-302.
    • (1996) Nat. Genet. , vol.12 , pp. 298-302
    • Holt, J.T.1    Thompson, M.E.2    Szabo, C.3
  • 20
    • 0037130887 scopus 로고    scopus 로고
    • Cancer incidence in BRCA1 mutation carriers
    • Breast Cancer Linkage Consortium:
    • Thompson D, Easton D, Breast Cancer Linkage Consortium: Cancer incidence in BRCA1 mutation carriers. J Natt Cancer Inst 2002; 94: 1358-1365.
    • (2002) J. Natt. Cancer Inst. , vol.94 , pp. 1358-1365
    • Thompson, D.1    Easton, D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.