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Titolo:
GERMLINE MUTATIONS OF THE BRCA1 GENE IN BREAST AND OVARIAN-CANCER FAMILIES PROVIDE EVIDENCE FOR A GENOTYPE-PHENOTYPE CORRELATION
Autore:
GAYTHER SA; WARREN W; MAZOYER S; RUSSELL PA; HARRINGTON PA; CHIANO M; SEAL S; HAMOUDI R; VANRENSBURG EJ; DUNNING AM; LOVE R; EVANS G; EASTON D; CLAYTON D; STRATTON MR; PONDER BAJ;
Indirizzi:
ADDENBROOKES HOSP,CRC,HUMAN CANC GENET RES GRP,BOX 238,HILLS RD CAMBRIDGE CB2 2QQ ENGLAND INST CANC RES,HADDOW LABS,MOLEC CARCINOGENESIS SECT SUTTON SM2 5NG SURREY ENGLAND INST PUBL HLTH,MRC,BIOSTAT UNIT CAMBRIDGE CB2 2SR ENGLAND UNIV PRETORIA,DEPT HUMAN GENET PRETORIA 0001 SOUTH AFRICA CANC PREVENT PROGRAMME MADISON WI 53706 ST MARYS HOSP,REG GENET SERV MANCHESTER M13 0JH LANCS ENGLAND INST PUBL HLTH,DEPT COMMUNITY MED CAMBRIDGE CB2 2SR ENGLAND
Titolo Testata:
Nature genetics
fascicolo: 4, volume: 11, anno: 1995,
pagine: 428 - 433
SICI:
1061-4036(1995)11:4<428:GMOTBG>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
21
Recensione:
Indirizzi per estratti:
Citazione:
S.A. Gayther et al., "GERMLINE MUTATIONS OF THE BRCA1 GENE IN BREAST AND OVARIAN-CANCER FAMILIES PROVIDE EVIDENCE FOR A GENOTYPE-PHENOTYPE CORRELATION", Nature genetics, 11(4), 1995, pp. 428-433

Abstract

Mutations in the BRCA1 gene, discovered in 1994, are associated with an 80-90% lifetime risk of breast cancer. We have analysed 60 familieswith a history of breast and/or ovarian cancer for germline mutationsin BRCA1. Twenty-two different mutations were detected in 32 families(53%), of which 14 are previously unreported. We observed a significant correlation between the location of the mutation in the gene and the ratio of breast to ovarian cancer incidence within each family. Our data suggest a transition in risk such that mutations in the 3' third of the gene are associated with a lower proportion of ovarian cancer. Haplotype analysis supports previous data which suggest some BRCA1 mutation carriers have common ancestors; however, we have found at least two examples where recurrent mutations appear to have arisen independently.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 13/07/20 alle ore 18:07:34