Article

Prevalence of Pathogenic Germline Variants in Cancer Susceptibility Genes using the All of Us Dataset

2025-03-30

Abstract excerpt

<h4>Importance</h4> Understanding the prevalence of the pathogenic germline variants in cancer susceptibility genes within a non-selected population could be highly beneficial for evaluating the need for broader genetic testing guidelines and thereby aiding early detection of cancer. <h4>Objective</h4> To determine the population-level prevalence of pathogenic variants in specific cancer susceptibility genes, whic...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 45fb618f-e181-5f9d-a58e-13b96f2e5962
DOI: 10.1101/2025.03.28.25324849

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Prevalence of Pathogenic Germline Variants in Cancer Susceptibility Genes using the All of Us DatasetDOI 10.1101/2025.03.28.25324849Read

Gene-Specific Cancer Patterns Among Pathogenic Germline Variant CarriersSemantic proximity Read

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.Semantic proximity Read

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.Semantic proximity Read

Germline variant spectrum of hereditary cancer susceptibility genes in a Chinese cohort.Semantic proximity Read

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.Semantic proximity Read

Prevalence and Distribution of Unexpected Actionable Germline Pathogenic Variants Identified on Broad-Based Multigene Panel Testing Among Patients With Cancer.Semantic proximity Read

Mutation prevalence tables for hereditary cancer derived from multi-gene panel testingSemantic proximity Read

Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.Semantic proximity Read

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.Semantic proximity Read

Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022.Semantic proximity Read

Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study.Semantic proximity Read

Pathogenic Germline Variants in 10,389 Adult Cancers.Semantic proximity Read