Indian Hereditary Breast and ovarian cancer patients panel based sequence

Breast and Ovarian cancers are the most prevalent cancers and one of the leading causes of death in Indian women. The healthcare burden of breast and ovarian cancers and the rise in mortality rate is worrying and stresses the need for early detection and treatment.We performed amplicon sequencing of 144 cases who had breast/ovarian cancer disease Total 137 cases are patients and 7 are tested for BRCA1 and BRCA2 carrier Using our custom designed gene panel consisting of 14 genes, that are associated with high to moderate risk of breast and ovarian cancers. Variants were called using Torrent Variant Caller and were annotated using Ion Reporter software. Classification of variants and their clinical significance were identified by searching the variants against ClinVar database.