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Article

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

BMC research notes - 5 Jun 2023

Gunawardena Kawmadi, Sirisena Nirmala D, Anandagoda Gayani, Neththikumara Nilaksha, Dissanayake Vajira H W

Abstract excerpt

BACKGROUND: Next-Generation Sequencing (NGS)-based testing in cancer patients has led to increased detection of variants of uncertain significance (VUS). VUS are genetic variants whose impact on protein function is unknown. VUS pose a challenge to clinicians and patients due to uncertainty regarding their cancer predisposition risk. Paucity of data exists on the pattern of VUS in under-represented populations....

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Identifiers

PMID: 37277882
DOI: 10.1186/s13104-023-06365-4
PMCID: PMC10243048

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