Whole-genome sequencing of six sisters with familial breast cancer negative for BRCA1/2 and other known susceptibility genes
This project involves whole-genome sequencing (WGS) of six women from two unrelated families, each comprising three sisters diagnosed with breast cancer. All participants previously tested negative for pathogenic variants in BRCA1, BRCA2, and other commonly screened susceptibility genes. The goal is to identify shared germline variants potentially contributing to hereditary breast cancer risk. High-coverage WGS was performed using the Illumina NovaSeq platform. Variant annotation focused on rare, coding, and regulatory regions, using public databases such as ClinVar, COSMIC, and OncoKB. The study aims to expand knowledge of polygenic and non-coding contributions to familial breast cancer beyond known high-penetrance genes.