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Titolo:
BRCA1 R841W - A STRONG CANDIDATE FOR A COMMON MUTATION WITH MODERATE PHENOTYPE
Autore:
BARKER DF; ALMEIDA ERA; CASEY G; FAIN PR; LIAO SY; MASUNAKA I; NOBLE B; KUROSAKI T; ANTONCULVER H;
Indirizzi:
UNIV UTAH,HLTH SCI CTR,DEPT PHYSIOL,ROOM 156,410 CHIPETA WAY,RES PK SALT LAKE CITY UT 84108 CLEVELAND CLIN FDN,CLEVELAND CLIN RES INST CLEVELAND OH 44195 UNIV COLORADO,HLTH SCI CTR,BARBARA DAVIS CTR CHILDHOOD DIABET DENVER CO 80262 UNIV CALIF IRVINE,DIV EPIDEMIOL IRVINE CA 92717
Titolo Testata:
Genetic epidemiology
fascicolo: 6, volume: 13, anno: 1996,
pagine: 595 - 604
SICI:
0741-0395(1996)13:6<595:BR-ASC>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
OVARIAN-CANCER FAMILIES; BREAST-CANCER; SUSCEPTIBILITY GENE; GERMLINE MUTATIONS; LOCALIZATION; SEQUENCE; 185DELAG;
Keywords:
BRCA1; COMMON MUTATION; MODERATE DISEASE PHENOTYPE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
D.F. Barker et al., "BRCA1 R841W - A STRONG CANDIDATE FOR A COMMON MUTATION WITH MODERATE PHENOTYPE", Genetic epidemiology, 13(6), 1996, pp. 595-604

Abstract

BRCA1 mutations cause increased risk for breast and ovarian cancer, frequently of early onset. Many different mutations occur in BRCA1, including several examples of recurrent mutations, each of which accountsfor a significant number of families with heritable cancer predisposition. These common mutations have an etiological role in many breast and ovarian cancer cases and provide the opportunity to examine genotype-phenotype correlations and genotype-environment interactions in individuals with the identical BRCA1 lesion. We report a novel missense change in BRCA1, 2640 C-->T (R841W), found in 3 cases from a subject group of 305 breast and 79 ovarian cancer cases from Orange County, CA. These are consecutive, population-based cases not selected for age or family history. In all three cases, there is a strong family history ofbreast, ovarian, or other cancers possibly related to a BRCA1 defect and family members showed a high concordance of cancer incidence with the presence of R841W. The age of cancer onset was not always distinctfrom typical sporadic cases. Testing of a sample of 413 unrelated individuals to examine the hypothesis that R841W might be a rare polymorphism detected one additional instance in a woman with breast cancer diagnosed at age 77 years, and cancer in one parent R841W is likely to be an etiologically significant lesion with involvement in close to 1% (95% confidence interval of 0-1.7%) of all breast and ovarian cancers in this population. (C) 1996 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/11/20 alle ore 11:02:24