Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients

Hereditary Breast and Ovarian Cancer (HBOC) syndrome is an autosomal dominant disease associated with a high risk of developing breast, ovarian, other malignancies. Lynch caused by mutations in mismatch repair genes predisposing to colorectal endometrial cancers, among others. A rare phenotype overlapping hereditary breast cancer syndromes poorly characterized. Three unrelated patients fulfilling clinical criteria for HBOC were tested whole exome sequencing. family history was reported two (cases 2 3). Several variants copy number variations identified, which potentially contribute the or prognosis. All presented imbalances encompassing PMS2 (two deletions one duplication), known gene involved DNA pathway. Two showed gains covering POLE2 1 3), replication. Germline damaging found PTCH1 (patient MAT1A, WRN 2). Overall, concurrent genomic alterations described that may increase appearance cancers.