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...
Main Authors: | Keinosuke Hizuka, Shin-ichiro Hagiwara, Takatoshi Maeyama, Hitoshi Honma, Masanobu Kawai, Kiwamu Akagi, Michiko Yasuhara, Naohiro Tomita, Yuri Etani |
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Format: | Article |
Language: | English |
Published: |
BMC
2021-02-01
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Series: | BMC Gastroenterology |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12876-021-01646-3 |
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