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Article

Functional analysis of ATM variants in a high risk cohort provides insight into missing heritability.

Cancer genetics - 1 Jun 2022

Baughan Scott L, Darwiche Fatima, Tainsky Michael A

Abstract excerpt

Variants of unknown significance (VUS) remain a constant challenge in the diagnosis of hereditary cancer and the counseling of patients with pedigrees suggestive of such a syndrome. In order to assess some of this limitation, several variants in the DNA repair gene ATM were selected from a cohort of high risk individuals with negative genetic diagnoses. ATM has proven a challenge in the counseling of patients due...

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Identifiers

PMID: 35354106
DOI: 10.1016/j.cancergen.2022.03.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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