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

Authors: Ling, Chao and Yang, Wei and Sun, Hailang and Ge, Ming and Ji, Yuanqi and Han, Shirui and Zhang, Di and Zhang, Xue

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.

Journal: Clinical case reports
DOI: 10.1002/ccr3.1564
Year: 2018

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