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Titolo:
CONTRIBUTION OF BRCA1 MUTATIONS TO OVARIAN-CANCER
Autore:
STRATTON JF; GAYTHER SA; RUSSELL P; DEARDEN J; GORE M; BLAKE P; EASTON D; PONDER BAJ;
Indirizzi:
ADDENBROOKES HOSP,WELLBEING OVARIAN CANC RES CTR,BOX 238 CAMBRIDGE CB2 2QQ ENGLAND CANC RES CAMPAIGN,HUMAN CANC GENET RES GRP CAMBRIDGE ENGLAND ROYAL MARSDEN HOSP,DEPT CLIN ONCOL LONDON SW3 6JJ ENGLAND INST PUBL HLTH,CANC RES CAMPAIGN,GENET EPIDEMIOL UNIT CAMBRIDGE ENGLAND
Titolo Testata:
The New England journal of medicine
fascicolo: 16, volume: 336, anno: 1997,
pagine: 1125 - 1130
SICI:
0028-4793(1997)336:16<1125:COBMTO>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
GERMLINE MUTATIONS; BREAST; GENE; FAMILIES; HETERODUPLEX;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
20
Recensione:
Indirizzi per estratti:
Citazione:
J.F. Stratton et al., "CONTRIBUTION OF BRCA1 MUTATIONS TO OVARIAN-CANCER", The New England journal of medicine, 336(16), 1997, pp. 1125-1130

Abstract

Background Inherited mutations in the BRCA1 gene confer a high risk of breast and ovarian cancer in some families. To determine the contribution of BRCA1 mutations to ovarian cancer in the general population, we analyzed DNA samples from a consecutive series of women with ovarian cancer seen at one center. Methods We studied 374 women who receiveda diagnosis of epithelial ovarian cancer before the age of 70 years and were treated at the Royal Marsden Hospital between July 1993 and September 1995. Genomic DNA was analyzed by multiplex heteroduplex analysis. Variants were further identified by sequencing. Results Probable germ-line BRCA1 mutations were identified in 13 of the 374 women (3 percent; 95 percent confidence interval, 2 to 6 percent). Six of the variants have not been described previously. Of the 13 mutations, 12 are predicted to result in a truncated protein product. An additional variant results in an in-frame deletion just outside the putative zinc-finger domain. Nine of the 12 women with truncating mutations had family histories of breast or ovarian cancer or both. Conclusions Assuming that our method has a sensitivity of 70 percent, mutations in BRCA1 occur in approximately 5 percent (95 percent confidence interval, 3 to 8 percent) of women in whom ovarian cancer is diagnosed before the age of70 years. (C) 1997, Massachusetts Medical Society.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 13/07/20 alle ore 18:08:55