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- Title
Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: A population-based study.
- Authors
Silvia de Sanjosé; Mélanie Léoné; Victoria Bérez; Angel Izquierdo; Rebeca Font; Joan M. Brunet; Thierry Louat; Loreto Vilardell; Joan Borras; Pau Viladiu; F. Xavier Bosch
- Abstract
Our aim was to estimate the prevalence of mutations in the BRCA1 and BRCA2 genes among unselected incident cases of breast cancer in young women. We identified 158 incident breast cancer cases diagnosed before age 46 years in predefined geographic areas in Girona and Tarragona, Spain, during 19951997. Of these, 136 (86%) provided information on family history of cancer and were screened for BRCA1 and BRCA2 mutations. Nine of the 136 (6.6%) were found to carry BRCA deleterious mutations (MUT) (1 BRCA1 and 8 BRCA2), and 20 were detected with rare BRCA variants of unknown significance (UV). Both MUT and US BRCA alterations were more frequent in younger patients: 7 (11.6%) MUT and 12 (19.3%) UV carriers were found in the group of 62 patients younger than 40 years, whereas 2 (2.7%) MUT and 9 (12%) US carriers were identified in the group of 74 patients aged 4045. Family history of breast and ovarian cancers suggestive of hereditary condition (at least 2 first- or second-degree relatives affected with breast cancer or at least 1 relative affected with ovarian cancer or early-onset breast cancer) was absent for 5 of 9 MUT carriers. This suggests that BRCA screening policies based on family history of cancer would miss a considerable proportion of BRCA mutations. Mutations in the BRCA1 and BRCA2 genes explain at least 10% of breast cancer cases diagnosed before age 40 years. The contribution of these genes to early-onset breast cancer is likely to be even higher given that certain UV cases might be disease-associated. © 2003 Wiley-Liss, Inc.
- Subjects
GENETIC mutation; BREAST cancer; DISEASES in women
- Publication
International Journal of Cancer, 2003, Vol 106, Issue 4, p588
- ISSN
0020-7136
- Publication type
Article