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Hereditary breast and ovarian cancer (HBOC) can be identified by genetic testing of cancer-causing genes. In this study, we identified a spectrum of genetic variations among 76 individuals of Armenian descent either with a family history of cancer or breast cancer before the age of 40. We screened 76 suspected HBOC patients and family members as well as four healthy controls using a targeted and hereditary comprehensive cancer panel (127 genes). We found 26 pathogenic (path) and 6 likely pathogenic (LPath)variants in 6 genes in 44 patients (58%); these variants were found in  BRCA1  (17),  BRCA2  (19),  CHEK2  (4),  PALB2  (2), and  NBN  (1). A few different variants were found in unrelated individuals; most notably, variant p.Trp1815Ter in the  BRCA1  gene occurred in four unrelated patients. We did not find any known significant variants in five patients. Comprehensive cancer panel testing revealed pathogenic variants in cancer genes other than  BRCA1  and  BRCA2 , suggesting that testing only  BRCA1  and  BRCA2  would have missed 8 out of 44 suspected HBOC patients (18%). These data also confirm that a comprehensive cancer panel testing approach could be an appropriate way to identify most of the variants associated with hereditary breast cancer.

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer