G-C heterozygosis in mutS homolog2 as a risk factor to hereditary nonpolyposis colon cancer in the absence of a family medical history.

Jorge Alfonso Arvayo-Zatarain,José Manuel Grijalva-Chon, Reina Castro-Longoria, Alejandro Varela-Romero

Indian journal of human genetics(2011)

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摘要
To detect the presence of point mutations in a small section of the mutS homolog2 (MSH2) gene in both healthy and affected persons treated at the General Hospital of the State of Sonora, a 353 base pair section of the MSH2 gene was amplified and sequenced from six persons affected by hereditary nonpolyposis colorectal cancer and from 19 healthy persons. The affected persons did not show the mutations reported in the scientific literature; however, six healthy persons were heterozygote and mutant-allele carriers. The heterozygote condition implies that carriers are candidates for the development of colorectal cancer. However, it is important to know the family medical history when investigating hereditary mutations.
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关键词
Colorectal cancer,hereditary nonpolyposis colon cancer,mutS homolog 2 gene,point mutation
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