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Article

Population-Based Penetrance of Deleterious Clinical Variants.

JAMA - 25 Jan 2022

Forrest Iain S, Chaudhary Kumardeep, Vy Ha My T, Petrazzini Ben O, Bafna Shantanu, Jordan Daniel M, Rocheleau Ghislain, Loos Ruth J F, Nadkarni Girish N, Cho Judy H, Do Ron

Abstract excerpt

Importance: Population-based assessment of disease risk associated with gene variants informs clinical decisions and risk stratification approaches. Objective: To evaluate the population-based disease risk of clinical variants in known disease predisposition genes. Design, Setting, and Participants: This cohort study included 72 434 individuals with 37 780 clinical variants who were enrolled in the BioMe Biobank...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 35076666
DOI: 10.1001/jama.2021.23686
PMCID: PMC8790667

Genes

BRCA1
BRCA2
PALB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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