Increased risk of skin cancer in Japanese heterozygotes of xeroderma pigmentosum group A. Issue 11 (November 2018)

• Record Type: Journal Article
• Authors: Hirai, Yuko; Noda, Asao; Kodama, Yoshiaki; Cordova, Kismet; Cullings, Harry; Yonehara, Shuji; Fujihara, Megumu; Moriwaki, Shin-ichi; Nishigori, Chikako; Mabuchi, Kiyohiko; Kraemer, Kenneth; Nakamura, Nori
• Is Part Of: Journal of human genetics. Volume 63:Issue 11(2018)
• Page Start: 1181
• Page End: 1184
• Publication Date: 2018-11
• Subjects: Medical genetics -- Periodicals; Human genetics -- Periodicals; 616.042
• DOI: 10.1038/s10038-018-0495-y
• Languages: English
• ISSNs: 1434-5161

Abstract

A bstract 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 anXPA 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 theXPA gene, and the majority of XP-A patients carry the same founder mutation in theXPA gene. Here we show that the frequency ofXPA heterozygote was 14/1698 (0.8%) in cancer-free controls, and the corresponding frequency in patients with nonmelanocytic skin cancer that developed in sun-exposed areas was 11/440 (2.5%, OR = 3.08, p = 0.0097) for basal cell carcinoma, and 3/272 (1.1%, OR = 1.34, p = 0.72) for squamous cell carcinoma. These results suggest a moderately elevated risk for skin cancer amongXPA heterozygotes.