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

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 heterozygo...

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Detalles Bibliográficos
Autores principales: Hizuka, Keinosuke, Hagiwara, Shin-ichiro, Maeyama, Takatoshi, Honma, Hitoshi, Kawai, Masanobu, Akagi, Kiwamu, Yasuhara, Michiko, Tomita, Naohiro, Etani, Yuri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7876783/
https://www.ncbi.nlm.nih.gov/pubmed/33568103
http://dx.doi.org/10.1186/s12876-021-01646-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7876783/
https://www.ncbi.nlm.nih.gov/pubmed/33568103
http://dx.doi.org/10.1186/s12876-021-01646-3

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