- •Pathogenic variants in BRCA1 and BRCA2 genes, the genes most affected in hereditary breast and ovarian cancer, are detected in ∼15% of women with familial breast cancer. However, disease causing variants in high and moderate risk genes exact frequency is unknown in Turkey.
- •Pathogenic gene variants’ frequency in high and moderate risk genes was found in 17.8% of 495 unrelated individuals diagnosed with breast cancer who are selected for genetic testing according to NCCN criteria for hereditary breast cancer. BRCA1/2 genes were the most affected ones.
- •Gene panel approach for hereditary breast cancer is an effective method for identifying disease causing variants in breast cancer susceptibility genes.
- •MLPA analysis of BRCA1/2 genes should be complementary method of gene panels.
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