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Article

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome biology - 22 Dec 2022

Scott Anthony, Hernandez Felicia, Chamberlin Adam, Smith Cathy, Karam Rachid, Kitzman Jacob O

Abstract excerpt

BACKGROUND: Lynch syndrome (LS) is a cancer predisposition syndrome affecting more than 1 in every 300 individuals worldwide. Clinical genetic testing for LS can be life-saving but is complicated by the heavy burden of variants of uncertain significance (VUS), especially missense changes. RESULT: To address this challenge, we leverage a multiplexed analysis of variant effect (MAVE) map covering >94% of the 17,746...

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Share to BRCA gene mutations in cancer
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36550560
DOI: 10.1186/s13059-022-02839-z
PMCID: PMC9773515

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