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Titolo:
MUTATIONS IN BRCA1 AND BRCA2 IN BREAST-CANCER FAMILIES - ARE THERE MORE BREAST CANCER-SUSCEPTIBILITY GENES
Autore:
SEROVA OM; MAZOYER S; PUGET N; DUBOIS V; TONIN P; SHUGART YY; GOLDGAR D; NAROD SA; LYNCH HT; LENOIR GM;
Indirizzi:
INT AGCY RES CANC,150 COURS ALBERT THOMAS F-69372 LYON 08 FRANCE INT AGCY RES CANC F-69372 LYON 08 FRANCE UMR 5641 CNRS,GENET LAB LYON FRANCE MCGILL UNIV,DEPT MED,DIV MED GENET MONTREAL PQ CANADA WOMENS COLL HOSP TORONTO ON M5S 1B2 CANADA CREIGHTON UNIV,SCH MED,DEPT PREVENT MED & PUBL HLTH OMAHA NE 00000
Titolo Testata:
American journal of human genetics
fascicolo: 3, volume: 60, anno: 1997,
pagine: 486 - 495
SICI:
0002-9297(1997)60:3<486:MIBABI>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
OVARIAN-CANCER; GERMLINE MUTATIONS; LINKAGE ANALYSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
O.M. Serova et al., "MUTATIONS IN BRCA1 AND BRCA2 IN BREAST-CANCER FAMILIES - ARE THERE MORE BREAST CANCER-SUSCEPTIBILITY GENES", American journal of human genetics, 60(3), 1997, pp. 486-495

Abstract

To estimate the proportion of breast cancer families due to BRCA1 or BRCA2, we performed mutation screening of the entire coding regions ofboth genes supplemented with linkage analysis of 31 families, 8 containing male breast cancers and 23 site-specific female breast cancer. Acombination of protein-truncation test and SSCP or heteroduplex analyses was used for mutation screening complemented, where possible, by the analysis of expression level of BRCA1 and BRCA2 alleles. Six of theeight families with male breast cancer revealed frameshift mutations,two in BRCA1 and four in BRCA2. Although most families with female site-specific breast cancers were thought to be due to mutations in either BRCA1: or BRCA2, we identified only eight mutations in our series of 23 site-specific female breast cancer families (34%), four in BRCA1 and four in BRCA2. According to the posterior probabilities calculatedfor mutation-negative families, based on linkage data and mutation screening results, we would expect 8-10 site-specific female breast cancer families of our series to be due to neither BRCA1 nor BRCA2. Thus, our results suggest the existence of at least one more major breast cancer-susceptibility gene.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 18:28:53