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Titolo:
'Other' breast cancer susceptibility genes: searching for more holy grail
Autore:
Nathanson, KL; Weber, BL;
Indirizzi:
Univ Penn, Sch Med, Abramson Family Canc Res Inst, Canc Ctr,Dept Med, Philadelphia, PA 19104 USA Univ Penn Philadelphia PA USA 19104 ,Dept Med, Philadelphia, PA 19104 USA
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 7, volume: 10, anno: 2001,
pagine: 715 - 720
SICI:
0964-6906(200104)10:7<715:'BCSGS>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
DNA-REPAIR PROFICIENCY; ATAXIA-TELANGIECTASIA; MISSENSE MUTATIONS; ANDROGEN-RECEPTOR; LINKAGE ANALYSIS; EARLY-ONSET; BRCA2 MUTATIONS; OVARIAN-CANCER; FAMILY HISTORY; HIGH-FREQUENCY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
63
Recensione:
Indirizzi per estratti:
Indirizzo: Weber, BL Univ Penn, Sch Med, Abramson Family Canc Res Inst, Canc Ctr,DeptMed, Philadelphia, PA 19104 USA Univ Penn Philadelphia PA USA 19104 Philadelphia, PA 19104 USA
Citazione:
K.L. Nathanson e B.L. Weber, "'Other' breast cancer susceptibility genes: searching for more holy grail", HUM MOL GEN, 10(7), 2001, pp. 715-720

Abstract

While germline mutations in BRCA1 and BRCA2 account for most, if not all families with autosomal dominant transmission of susceptibility to both breast and ovarian cancer, it has become clear that together these genes only account for a small proportion of hereditary site-specific breast cancer susceptibility. However, difficulties due to genetic heterogeneity, reduced penetrance and perhaps gene mutation frequency complicate ongoing efforts to identify additional susceptibility genes. Therefore, multiple approaches are being used to identify additional high and low penetrance genes. familieswith three or more breast cancer cases are being used in traditional linkage studies, which are expected to yield only moderate or high penetrance susceptibility genes, Breast cancer case-control studies are being used to look for genetic variants or polymorphisms that confer an increased risk of breast cancer in a wide variety of cellular pathways, ranging from the detoxification of environmental carcinogens to steroid hormone metabolism, DNA damage repair and immune surveillance, an approach useful primarily to identify low penetrance susceptibility genes, However, neither approach has yielded convincing results to date. A third approach, using BRCA1 and BRCA2 mutation carriers to identify genes that are associated with modification of breast cancer risk has met with some limited success, perhaps because effects on breast cancer risk in BRCA1 and BRCA2 mutation carriers are more readily detected in smaller studies, given the much higher number of events in these cohorts at very high risk of breast cancer. Clearly, hereditary breastcancer susceptibility is a complex phenomenon, in which multiple genes mayplay a role. It will be necessary to use all of these approaches, as well as more comprehensive genomic studies, to identify additional breast cancer-related genes.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/04/20 alle ore 09:05:57