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Article

Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2024

Deng Joseph, Altintas Burak, Haley Jeremy S, Kim Jung, Ramos Mark, Carey David J, Stewart Douglas R, McReynolds Lisa J

Abstract excerpt

PURPOSE: Fanconi anemia (FA) is a bone marrow failure and cancer predisposition syndrome caused primarily by biallelic pathogenic variants in 1 of 22 genes involved in DNA interstrand cross-link repair. An enduring question concerns cancer risk of those with a single pathogenic FA gene variant. To investigate all FA genes, this study utilized the DiscovEHR cohort of 170,503 individuals with exome sequencing and...

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Identifiers

PMID: 38063144
DOI: 10.1016/j.gim.2023.101042
PMCID: PMC10939803

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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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