Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.

doi:10.1002/cncr.22697

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Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.

Jan-Werner JW Poley, Anja A Wagner, Monique M C P MM Hoogmans, Fred H FH Menko, Carli C Tops, Johan M JM Kros, Roel E RE Reddingius, Hanne H Meijers-Heijboer, Ernst J EJ Kuipers, Winand N M WN Dinjens and Cancer 109(11):2349-56 (2007) PMID 17440981

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 studied the role of homozygosity or compound heterozygosity (CZ) for MMR gene defects in children with multiple primary tumors.

DOI: 10.1002/cncr.22697
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Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.

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