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

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

Abstract 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 he...

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Bibliographic Details
Main Authors: Keinosuke Hizuka, Shin-ichiro Hagiwara, Takatoshi Maeyama, Hitoshi Honma, Masanobu Kawai, Kiwamu Akagi, Michiko Yasuhara, Naohiro Tomita, Yuri Etani
Format: Article
Language:English
Published: BMC 2021-02-01
Series:BMC Gastroenterology
Subjects:
Café-au-lait macules
Case report
Constitutional mismatch repair deficiency
Mismatch repair gene
Neurofibromatosis type1
Online Access:https://doi.org/10.1186/s12876-021-01646-3

Internet

https://doi.org/10.1186/s12876-021-01646-3

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