Germline genetic variants, their frequency, and clinico-pathological features in Sri Lankan patients with hereditary breast cancer

Abstract

Introduction: The incidence of breast cancer in Sri Lankan women is rising at an alarming rate of 4% per year. Next-generation sequencing (NGS)-based whole exome sequencing (WES) is increasingly being utilised to detect germline variants in cancer predisposing genes and to predict inherited cancer risk. This study aims to assess the frequency of germline genetic variants and clinico-pathological features in a cohort of Sri Lankan hereditary breast cancer patients. Methods: Genomic data of 72 hereditary breast cancer patients who underwent WES between January 2015 and December 2021 were maintained prospectively in a database and analysedretrospectively. Data were subjected to bioinformatics analysis and variants were classified according to international standard guidelines. Information including demographic data, family history of cancer, tumour histopathology and receptor status were also analysed