Two common sequence variants in BRCA1, c.2077G > A and c.4956G > A, were found more frequently in mutation carriers compared to healthy controls. No difference in BRCA2 variants was detected between the groups.
Haplotype inference showed no difference in haplotype distributions between deleterious mutation carriers and non-carriers in neither BRCA1 nor BRCA2. In silico analyses identified one BRCA1 sequence variant (c.4039A > G) and two BRCA2 variants (c.5986G > A and c.6884G > C) as harmful with high probability, and inconclusive results were obtained for our novel BRCA2 variant c.3864_3866delTAA.
Combination of QMPSF and HRMA methods provides high detection rate and complete coverage of BRCA1/2 genes. Benefit of BRCA1/2 mutation testing is clear, since we detected mutations in young unaffected women, who will be closely monitored for breast and ovarian cancer.