Pathogenic Germline Variants in Cancer Susceptibility Genes
Gideon Idumah, Daphne Newell, Madeleine Hadrys, Isabella Ribaudo, Ying Ni, Joshua Arbesman
Abstract
This cross-sectional analysis uses data from the All of Us study to estimate the population-level prevalence in US adults of pathogenic variants in key cancer susceptibility genes.
Topics & Concepts
GermlineMedicineGeneGeneticsCancerGermline mutationMutationGenotypeGenetic predispositionPathogenicityLi–Fraumeni syndromeKey (lock)GenomeSingle-nucleotide polymorphismComputational biologyGenetic variationHuman geneticsBRCA gene mutations in cancerDNA Repair MechanismsGenomics and Rare Diseases