Article
Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.
PLoS genetics - 1 Jan 2025
Haque Bushra, Cheerie David, Pan Amy, Curtis Meredith, Nalpathamkalam Thomas, Nguyen Jimmy, Salhab Celine, Thiruvahindrapuram Bhooma, Zhang Jade, Couse Madeline, Hartley Taila, Morrow Michelle M, Price E Magda, Walker Susan, Malkin David, Roth Frederick P, Costain Gregory
Abstract excerpt
Innovative and easy-to-implement strategies are needed to improve the pathogenicity assessment of rare germline missense variants. Somatic cancer driver mutations identified through large-scale tumor sequencing studies often impact genes that are also associated with rare Mendelian disorders. The use of cancer mutation data to aid in the interpretation of germline missense variants, regardless of whether the gene...
Read the complete abstract on PubMedTopics
- Humans
- Mutation, Missense
- Germ-Line Mutation
- Neoplasms
- Genetic Predisposition to Disease