Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome

Few studies reported patients who harbored three kinds of primary tumors simultaneously. Here, we present a 9‐year‐old boy with colon carcinoma, brain medulloblastoma, and lymphoma. Genetic mutation detection was explored with next‐generation sequencing, and compound heterozygous mutations in gene M...

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Autores principales: Ling, Chao, Yang, Wei, Sun, Hailang, Ge, Ming, Ji, Yuanqi, Han, Shirui, Zhang, Di, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099036/
https://www.ncbi.nlm.nih.gov/pubmed/30147880
http://dx.doi.org/10.1002/ccr3.1564
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author Ling, Chao
Yang, Wei
Sun, Hailang
Ge, Ming
Ji, Yuanqi
Han, Shirui
Zhang, Di
Zhang, Xue
author_facet Ling, Chao
Yang, Wei
Sun, Hailang
Ge, Ming
Ji, Yuanqi
Han, Shirui
Zhang, Di
Zhang, Xue
author_sort Ling, Chao
collection PubMed
description Few studies reported patients who harbored three kinds of primary tumors simultaneously. Here, we present a 9‐year‐old boy with colon carcinoma, brain medulloblastoma, and lymphoma. Genetic mutation detection was explored with next‐generation sequencing, and compound heterozygous mutations in gene MSH6 c.3103C>T p.Arg1035Ter and c.3261dupC p.Phe1088LeufsTer were discovered.
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spelling pubmed-60990362018-08-24 Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome Ling, Chao Yang, Wei Sun, Hailang Ge, Ming Ji, Yuanqi Han, Shirui Zhang, Di Zhang, Xue Clin Case Rep Case Reports Few studies reported patients who harbored three kinds of primary tumors simultaneously. Here, we present a 9‐year‐old boy with colon carcinoma, brain medulloblastoma, and lymphoma. Genetic mutation detection was explored with next‐generation sequencing, and compound heterozygous mutations in gene MSH6 c.3103C>T p.Arg1035Ter and c.3261dupC p.Phe1088LeufsTer were discovered. John Wiley and Sons Inc. 2018-06-08 /pmc/articles/PMC6099036/ /pubmed/30147880 http://dx.doi.org/10.1002/ccr3.1564 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Ling, Chao
Yang, Wei
Sun, Hailang
Ge, Ming
Ji, Yuanqi
Han, Shirui
Zhang, Di
Zhang, Xue
Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
title Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
title_full Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
title_fullStr Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
title_full_unstemmed Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
title_short Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
title_sort rare compound heterozygous mutations in gene msh6 cause constitutive mismatch repair deficiency syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099036/
https://www.ncbi.nlm.nih.gov/pubmed/30147880
http://dx.doi.org/10.1002/ccr3.1564
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