Pajares, BellaPorta, JavierPorta, Jose MaríaSousa, Cristina Fernández-deMoreno, IgnacioPorta, DanielDurán, GemaVega, TamaraOrtiz, InmaculadaMuriel, CarolinaAlba, EmilioMárquez, Antonia2023-01-252023-01-252018-06-08http://hdl.handle.net/10668/12566The BRCA1/2 mutation profile varies in Spain according to the geographical area studied. The mutational profile of BRCA1/2 in families at risk for hereditary breast and ovarian cancer has not so far been reported in Andalusia (southern Spain). We analysed BRCA1/2 germline mutations in 562 high-risk cases with breast and/or ovarian cancer from Andalusian families from 2010 to 2015. Among the 562 cases, 120 (21.4%) carried a germline pathogenic mutation in BRCA1/2; 50 in BRCA1 (41.7%) and 70 in BRCA2 (58.3%). We detected 67 distinct mutations (29 in BRCA1 and 38 in BRCA2), of which 3 in BRCA1 (c.845C > A, c.1222_1223delAC, c.2527delA) and 5 in BRCA2 (c.293 T > G, c.5558_5559delGT, c.6034delT, c.6650_6654delAAGAT, c.6652delG) had not been previously described. The most frequent mutations in BRCA1 were c.5078_5080delCTG (10%) and c.5123C > A (10%), and in BRCA2 they were c.9018C > A (14%) and c.5720_5723delCTCT (8%). We identified 5 variants of unknown significance (VUS), all in BRCA2 (c.5836 T > C, c.6323G > T, c.9501 + 3A > T, c.8022_8030delGATAATGGA, c.10186A > C). We detected 76 polymorphisms (31 in BRCA1, 45 in BRCA2) not associated with breast cancer risk. This is the first study reporting the mutational profile of BRCA1/2 in Andalusia. We identified 21.4% of patients harbouring BRCA1/2 mutations, 58.3% of them in BRCA2. We also characterized the clinical data, mutational profile, VUS and haplotype profile.enAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/Andalusian populationBRCA1/BRCA2 mutationGenetic counsellingHereditary breast and ovarian cancerRecurrent mutationAdultBRCA1 ProteinBRCA2 ProteinDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseGerm-Line MutationHereditary Breast and Ovarian Cancer SyndromeHumansMiddle AgedSpainresearch article29884136open access10.1186/s12885-018-4537-91471-2407PMC5994127https://bmccancer.biomedcentral.com/track/pdf/10.1186/s12885-018-4537-9.pdfhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994127/pdf