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Article

Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 10 Feb 2023

Lampson Benjamin L, Gupta Aditi, Tyekucheva Svitlana, Mashima Kiyomi, Petráčková Anna, Wang Zixu, Wojciechowska Natalia, Shaughnessy Conner J, Baker Peter O, Fernandes Stacey M, Shupe Samantha, Machado John-Hanson, Fardoun Rayan, Kim Annette S, Brown Jennifer R

Abstract excerpt

PURPOSE: Germline missense variants of unknown significance in cancer-related genes are increasingly being identified with the expanding use of next-generation sequencing. The ataxia telangiectasia-mutated (ATM) gene on chromosome 11 has more than 1,000 germline missense variants of unknown significance and is a tumor suppressor. We aimed to determine if rare germline ATM variants are more frequent in chronic...

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Identifiers

PMID: 36315919
DOI: 10.1200/JCO.22.00269
PMCID: PMC9928739

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