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Article

High-grade brain tumors in siblings with biallelic MSH6 mutations.

Pediatric blood & cancer - 1 Dec 2011

Ilencikova Denisa, Sejnova Daniela, Jindrova Jana, Babal Pavel

Abstract excerpt

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 in an 11-year-old female and glioblastoma multiforme in her 10-year-old brother, both with rapid progression of the...

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Source

Identifiers

PMID: 21674763
DOI: 10.1002/pbc.23217

Genes

MSH6
MLH1
MSH2
PMS2

Provenance

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