Journal article

The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain

Roger L Milne, Ana Osorio, Teresa Ramon y Cajal, Ana Vega, Gemma Llort, Miguel de la Hoya, Orland Diez, M Carmen Alonso, Conxi Lazaro, Ignacio Blanco, Ana Sanchez-de-Abajo, Trinidad Caldes, Ana Blanco, Begona Grana, Mercedes Duran, Eladio Velasco, Isabel Chirivella, Eva Esteban Cardenosa, Maria-Isabel Tejada, Elena Beristain Show all

Clinical Cancer Research | AMER ASSOC CANCER RESEARCH | Published : 2008

Abstract

PURPOSE: It is not clear that the published estimates of the breast and ovarian cancer penetrances of mutations in BRCA1 and BRCA2 can be used in genetic counseling in countries such as Spain, where the incidence of breast cancer in the general population is considerably lower, the prevalence of BRCA2 mutations seems to be higher, and a distinct spectrum of recurrent mutations exists for both genes. We aimed to estimate these penetrances for women attending genetic counseling units in Spain. EXPERIMENTAL DESIGN: We collected phenotype and genotype data on 155 BRCA1 and 164 BRCA2 mutation carrier families from 12 centers across the country. Average age-specific cumulative risks of breast canc..

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