Abstract
Hereditary nonpolyposis colon cancer (HNPCC) is an autosomal dominant disorder characterized by the predisposition to develop a number of cancers, especially colorectal cancer (CRC). We present a HNPCC family with CRC at age 12 years. Our observations suggest that the germline mutation of the both copies of the MLH1 gene may play a role in the early onset of CRC.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing
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Adenocarcinoma / genetics*
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Carrier Proteins / genetics*
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Child
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Chromosomal Instability
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Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
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DNA Repair / genetics*
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Germ-Line Mutation*
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Humans
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Male
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Microsatellite Repeats
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MutL Protein Homolog 1
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MutS Homolog 2 Protein / genetics
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Nuclear Proteins / genetics*
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Sigmoid Neoplasms / genetics*
Substances
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Adaptor Proteins, Signal Transducing
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Carrier Proteins
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MLH1 protein, human
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Nuclear Proteins
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MSH2 protein, human
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MutL Protein Homolog 1
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MutS Homolog 2 Protein