Increased risk of skin cancer in Japanese heterozygotes of xeroderma pigmentosum group A

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...

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Bibliographic Details
Published in:Journal of human genetics 2018-11, Vol.63 (11), p.1181-1184
Main Authors: 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
Format: Article
Language:English
Subjects:
Adenocarcinoma - genetics
Aged
Asian People - genetics
Basal cell carcinoma
Carcinoma, Squamous Cell - genetics
DNA repair
Female
Founder Effect
Genetics & Heredity
Heterozygote
Heterozygotes
Humans
Japan
Male
Middle Aged
Mutation
Skin cancer
Skin Neoplasms - genetics
Squamous cell carcinoma
Xeroderma pigmentosum
Xeroderma Pigmentosum Group A Protein - genetics
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Summary: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.
ISSN:1434-5161
1435-232X
1435-232X
DOI:10.1038/s10038-018-0495-y