Article
Increased risk of skin cancer in Japanese heterozygotes of xeroderma pigmentosum group A.
Journal of human genetics - 1 Nov 2018
Hirai Yuko, Noda Asao, Kodama Yoshiaki, Cordova Kismet A, Cullings Harry M, Yonehara Shuji, Fujihara Megumu, Moriwaki Shin-Ichi, Nishigori Chikako, Mabuchi Kiyohiko, Kraemer Kenneth H, Nakamura Nori
Abstract excerpt
This study was designed to learn if asymptomatic heterozygotes with mutations in a DNA repair gene are at an increased risk for cancer. To examine this, we focused on carriers of an XPA founder mutation because the frequency of xeroderma pigmentosum (XP) patients is much greater among Japanese than Caucasians, more than half of Japanese XP patients are affected at the XPA gene, and the majority of XP-A patients...
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