Login / Signup

Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer.

Kawmadi GunawardenaNirmala Dushyanthi SirisenaGayani AnandagodaNilaksha NeththikumaraVajira H W Dissanayake
Published in: BMC research notes (2023)
A significant portion of patients had a germline VUS. Highest frequency was in BRCA2 gene. Majority had family history of breast cancer. This highlights the need to undertake functional genomic studies to determine the biological effects of VUS and identify potentially clinically actionable variants that would be useful for decision-making and patient management.
Keyphrases