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Biallelic germline mutations of mismatch‐repair genes

17 Apr 2007

Abstract excerpt

BACKGROUND: Heterozygous defects in mismatch-repair (MMR) genes cause hereditary nonpolyposis colorectal cancer (HNPCC). In this syndrome, tumors typically arise from age 25 years onward. Case reports have shown that homozygosity or compound heterozygosity for MMR gene mutations can cause multiple tumors in childhood, sometimes combined with neurofibromatosis type I (NF1)-like features. Therefore, the authors...

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PMID: 17440981
DOI: 10.1002/cncr.22697

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