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Article

Increased Prevalence of Germline Pathogenic CHEK2 Variants in Individuals With Pituitary Adenomas.

The Journal of clinical endocrinology and metabolism - 15 Oct 2024

De Sousa Sunita M C, McCormack Ann, Orsmond Andreas, Shen Angeline, Yates Christopher J, Clifton-Bligh Roderick, Santoreneos Stephen, King James, Feng Jinghua, Toubia John, Torpy David J, Scott Hamish S

Abstract excerpt

CONTEXT: CHEK2 is a cell cycle checkpoint regulator gene with a long-established role as a clinically relevant, moderate risk breast cancer predisposition gene, with greater risk ascribed to truncating variants than missense variants. OBJECTIVE: To assess the rate and pathogenicity of CHEK2 variants amongst individuals with pituitary adenomas (PAs). METHODS: We assessed 165 individuals with PAs for CHEK2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38651569
DOI: 10.1210/clinem/dgae268
PMCID: PMC11479685

Genes

CHEK2

Variants

Provenance

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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