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Article

Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report.

BMC gastroenterology - 10 Feb 2021

Hizuka Keinosuke, Hagiwara Shin-Ichiro, Maeyama Takatoshi, Honma Hitoshi, Kawai Masanobu, Akagi Kiwamu, Yasuhara Michiko, Tomita Naohiro, Etani Yuri

Abstract excerpt

BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is caused by biallelic pathogenic variants in one of the mismatch repair genes, and results in early onset colorectal cancer, leukemia, brain tumors and other childhood malignancies. Here we report a case of CMMRD with compound heterozygous variants in the MSH6 gene, including a de novo variant in multiple colorectal cancers. CASE PRESENTATION: An...

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Identifiers

PMID: 33568103
DOI: 10.1186/s12876-021-01646-3
PMCID: PMC7876783

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