317 Poster - Use of multi gene-panel testing to detect hereditary breast cancer gene variants in patients attending to a breast cancer clinic, Peradeniya, Sri Lanka

Abstract

Background: Globally one in eight women develops breast cancer (BC) in the lifetime. As per the national statistics, 38.7% Sri Lankan women aged 39– 46 years account for BC, which ranked first among all cancers in that age group. About 5–10% of Breast Cancer (BC) cases are clustered in families owing to germline mutations in genes other than BRCA1/2 leading to hereditary breast cancer. Genes in which germline mutations confer highly or moderately increased risks of cancer are called cancer predisposition genes (CPGs). Hereditary breast cancers occur in individuals with germline variants in various CPGs such as BRCA1, BRCA2, CHEK2, ATM, PALB2, TP53, PTEN, STK11, BRIP1, CDKN2A, BARD1, FANC1. Multi-gene panel testing for detection of clinically actionable genetic variants in CPGs are useful in routine clinical practice. This study aimed to describe the pattern of germline variants in a cohort of Sri Lankan patients using multi gene panel testing to assess the cancer risk in individuals. Ethical clearance was obtained from Ethics Review Committee of the Faculty.