Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome.
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ABSTRACT:
SUBMITTER: Ling C
PROVIDER: S-EPMC6099036 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Publications
Rare compound heterozygous mutations in gene <i>MSH6</i> cause constitutive mismatch repair deficiency syndrome.
Ling Chao C Yang Wei W Sun Hailang H Ge Ming M Ji Yuanqi Y Han Shirui S Zhang Di D Zhang Xue X
Clinical case reports 20180608 8
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 <i>MSH6</i> c.3103C>T p.Arg1035Ter and c.3261dupC p.Phe1088LeufsTer were discovered. ...[more]
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