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CHFR gene variations: A novel cause for hereditary cancer predisposition?

Journal of genetics - 1 Jan 2026

Chirravuri-Venkata Ramakanth, Bhowmik Aneek Das, Nemalikanti Malini, Mishra Suryanarayan, Singha Bishwadeep, Undamatla Valli, Raju Kataru Chandreswara, A Shrey, Kola Ramyasri, Sowpati Divya Tej, Ranganath Prajnya, Tallapaka Karthik Bharadwaj

Abstract excerpt

Pathogenic variations in DNA checkpoint kinases, cell cycle regulation, and DNA-damage repair genes are responsible for hereditary cancer predisposition. In a woman with a history of multiple primary cancers (carcinoma rectum and papillary carcinoma of thyroid) at a young age, whole exome sequencing (WES) of the blood revealed a likely pathogenic germline variation NM_001161346.2(CHFR):c.1231C[T (ClinVar...

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PMID: 42444494

Genes

CHFR

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