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Article

Germline RAD54L with somatic POLE defect implicated in Hypermutation phenotype: case report.

BMC gastroenterology - 5 Aug 2020

Zohud Bisan Abdalfatah, Wang Meiling, Cai Xin

Abstract excerpt

BACKGROUND: Colorectal cancer is one of the most frequent causes of death among cancer patients. Hypermutated CRC is an extraordinary case of cancer, but curable if detected at early stages. However, the mechanism for developing a hypermutated CRC remains unclear. An association between RAD54L germline mutation and POLE exonuclease domain hypermutated cancer has not been reported before. CASE PRESENTATION: We...

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Identifiers

PMID: 32758138
DOI: 10.1186/s12876-020-01403-y
PMCID: PMC7409428

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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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