High-grade brain tumors in siblings with biallelic MSH6 mutations

Biallelic germline mutations of Constitutional mismatch repair‐deficiency syndrome (CMMR‐D) genes, MLH1, MSH2, MSH6, and PMS2 are characterized by increased risk of childhood malignancy. We report a case with CMMR‐D caused by novel homozygous MSH6 mutations leading to gliomatosis cerebri and T‐ALL i...

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Bibliographic Details
Published in:	Pediatric blood & cancer Vol. 57; no. 6; pp. 1067 - 1070
Main Authors:	Ilencikova, Denisa, Sejnova, Daniela, Jindrova, Jana, Babal, Pavel
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-12-2011
Subjects:	Alleles Brain Neoplasms - genetics Brain Neoplasms - pathology Child childhood T-NHL constitutional mismatch repair-deficiency syndrome (CMMR-D) DNA Repair-Deficiency Disorders - genetics DNA Repair-Deficiency Disorders - pathology DNA-Binding Proteins - genetics Female Glioblastoma - genetics high-grade brain tumors Humans Male MSH6 Mutation Pedigree Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics Siblings
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