التفاصيل البيبلوغرافية
| العنوان: |
Hereditary breast and ovarian cancer in Andalusian families: a genetic population study. |
| المؤلفون: |
Pajares, Bella, Porta, Javier, Porta, Jose María, Sousa, Cristina Fernández-de, Moreno, Ignacio, Porta, Daniel, Durán, Gema, Vega, Tamara, Ortiz, Inmaculada, Muriel, Carolina, Alba, Emilio, Márquez, Antonia |
| المصدر: |
BMC Cancer; 6/8/2018, Vol. 18 Issue 1, p647-647, 1p |
| مستخلص: |
Background: The 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).Methods: We analysed BRCA1/2 germline mutations in 562 high-risk cases with breast and/or ovarian cancer from Andalusian families from 2010 to 2015.Results: 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.Conclusions: 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. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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