Open AccessIncreased risk of skin cancer in Japanese heterozygotes of xeroderma pigmentosum group A
Author(s) -
Yuko Hirai,
Asao Noda,
Y. Kodama,
Kismet A. Cordova,
Harry M. Cullings,
Shuji Yonehara,
Megumu Fujihara,
Shinichi Moriwaki,
Chikako Nishigori,
Kiyóhiko Mabuchi,
Kenneth H. Kraemer,
Nori Nakamura
Publication year - 2018
Publication title -
journal of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 82
eISSN - 1435-232X
pISSN - 1434-5161
DOI - 10.1038/s10038-018-0495-y
Subject(s) - xeroderma pigmentosum , skin cancer , heterozygote advantage , basal cell carcinoma , mutation , genetics , biology , cancer , nucleotide excision repair , gene , cancer research , photodermatosis , basal cell , dna repair , dermatology , medicine , genotype , pathology
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 carry the same founder mutation in the XPA gene. Here we show that the frequency of XPA 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 among XPA heterozygotes.