Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases

• DOI: 10.1007/s10689-012-9519-5
• Publication Date: 2012-02-29T14:40:56Z
• Authors: Izabela Brozek; Magdalena Ratajska; Magdalena Piatkowska; Anna Kluska; Aneta Balabas; Michalina Dabrowska; Dorota Nowakowska; Anna Niwinska; Jadwiga Rachtan; Jan Steffen; Janusz Limon
• Keywords: Ovarian Neoplasms; Cancer Research; BRCA1 Protein; Breast Neoplasms; White People; Pedigree; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Oncology; Mutation; Genetics; Humans; Genetics(clinical); Original Article; Female; Genetic Testing; Poland

It is estimated that about 5-10% of ovarian and 2-5% all breast cancer patients are carriers a germline BRCA1 or BRCA2 gene mutation. Most families with detected mutation qualified for molecular testing on the basis family history cancers. The purpose our study was to establish frequency positive in series Polish consecutive two groups, without mutations. We analysed prevalence four most common mutations: 5382insC (c.5266dupC), 300T>G (p.181T>G), 185delAG (c.68_69delAG) 3819del5 (c.3700_3704del5). patient group consisted 1,845 female 363 cases. 19 out 37 (51%) BRCA1-positive 21 55 (39%) had negative and/or among first- second-degree relatives. In patients, more frequent those than carriers. This finding indicates necessity searching single diagnosis family. high mutations lacking obvious shows should be genetic wide clinical pathological criteria.