Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer.
case_report · Level V
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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.
Medical subject headings
- Adenocarcinoma
- Carrier Proteins
- Colorectal Neoplasms, Hereditary Nonpolyposis
- DNA Repair
- Germ-Line Mutation
- Nuclear Proteins
- Sigmoid Neoplasms