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Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.

Breast cancer research and treatment - 1 Nov 2022

Laitman Yael, Nielsen Sarah M, Bernstein-Molho Rinat, Heald Brandie, Hatchell Kathryn E, Esplin Edward D, Friedman Eitan

Abstract excerpt

PURPOSE: Cancer risks conferred by germline, heterozygous, ATM pathogenic/likely pathogenic variants (PSVs) are yet to be consistently determined. The current study assessed these risks by analysis of a large dataset of ATM heterozygote loss of function (LOF) and missense PSV carriers tested with a multigene panel (MGP). METHODS: De-identified data of all individuals who underwent ATM sequencing as part of MGP...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 36094610
DOI: 10.1007/s10549-022-06723-z

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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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