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

ABSTRACT: 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.

SUBMITTER: Ling C 

PROVIDER: S-EPMC6099036 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature