Work

Pathogenic Germline Variants in Cancer Susceptibility Genes

Year: 2025

Type: article

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.

Source: JAMA

DOI: 10.1001/jama.2025.16372

Authors: Gideon Idumah, Daphne Newell, Madeleine Hadrys, Isabella Ribaudo, Ying Ni, Joshua Arbesman

Institutions: Cleveland Clinic, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University

Language: English

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: Eunice Kennedy Shriver National Institute of Child Health and Human Development

Award: G3833797083

OpenAlex ID: W4415251292

FWCI: 8.629

Cites: 6

Cited by: 16

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