Article
Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population.
Mutation research - 10 Oct 2006
Hirai Yuko, Kodama Yoshiaki, Moriwaki Shin-Ichi, Noda Asao, Cullings Harry M, Macphee Donald G, Kodama Kazunori, Mabuchi Kiyohiko, Kraemer Kenneth H, Land Charles E, Nakamura Nori
Abstract excerpt
Individuals who are homozygotes for mutations in DNA repair genes are at high risk for cancer. It is not well documented, however, if the heterozygous carriers of the mutation are also predisposed to cancer. To address the issue, xeroderma pigmentosum (XP) in Japan is an interesting candidate because of three major reasons: XP is an autosomal recessive disorder with an enormously elevated risk of skin cancer, the...
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