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Titolo:
VARIATION OF RISKS OF BREAST AND OVARIAN-CANCER ASSOCIATED WITH DIFFERENT GERMLINE MUTATIONS OF THE BRCA2 GENE
Autore:
GAYTHER SA; MANGION J; RUSSELL P; SEAL S; BARFOOT R; PONDER BAJ; STRATTON MR; EASTON D;
Indirizzi:
ADDENBROOKES HOSP,CRC,HUMAN CANC GENET RES GRP,HILLS RD,BOX 238 CAMBRIDGE CB2 2QQ ENGLAND INST CANC RES,HADDOW LABS,SECT MOL CARCINOGENESIS SUTTON SM2 5NG SURREY ENGLAND UNIV FORVIE SITE,INST PUBL HLTH,CRC,GENET EPIDEMIOL GRP CAMBRIDGE CB22SR ENGLAND
Titolo Testata:
Nature genetics
fascicolo: 1, volume: 15, anno: 1997,
pagine: 103 - 105
SICI:
1061-4036(1997)15:1<103:VOROBA>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
SUSCEPTIBILITY GENE; APC GENE; POLYPOSIS; PHENOTYPE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
S.A. Gayther et al., "VARIATION OF RISKS OF BREAST AND OVARIAN-CANCER ASSOCIATED WITH DIFFERENT GERMLINE MUTATIONS OF THE BRCA2 GENE", Nature genetics, 15(1), 1997, pp. 103-105

Abstract

The breast cancer susceptibility gene BRCA2 on chromosome 13q12-13 has recently been identified(1). Germline mutations of BRCA2 are predicted to account for approximately 35% of families with multiple case, early onset female breast cancer, and they are also associated with an increased risk of male breast cancer, ovarian cancer, prostate cancer and pancreatic cancer(2-4). Germline mutations of a second cancer susceptibility gene BRCA1 (ref. 5), are associated with a strong predisposition to ovarian cancer as well as female breast cancer(6). Recent studies have suggested that the phenotype in BRCA1 families with respect to the ratio of breast to ovarian cancer varies with the location of the BRCA1 mutation(7,8). To determine whether germline mutations in BRCA2 are associated with a similar variation in phenotypic risk, we have analysed the distribution of mutations in 25 families with multiple cases of breast and/or ovarian cancer ascertained in the United Kingdom and fire. These mutations all lead to premature truncation of BRCA2 asa result of frameshift deletions/insertions or nonsense mutations. Analysis of the mutation distribution along the length of the gene indicates a significant genotype-phenotype correlation. Truncating mutations in families with the highest risk of ovarian cancer relative to breast cancer are clustered in a region of approximately 3.3 kb in exon 11(P=0.0004). Published data on mutations in 45 other BRCA2-linked families provide support for this correlation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/07/20 alle ore 14:18:46