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大学・研究所にある論文を検索できる 「Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2‐mutation carriers」の論文概要。リケラボ論文検索は、全国の大学リポジトリにある学位論文・教授論文を一括検索できる論文検索サービスです。
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Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2‐mutation carriers

Mori, Tomoharu Okamoto, Yusuke Mu, Anfeng Ide, Yoshimi Yoshimura, Akiyo Senda, Noriko Inagaki‐Kawata, Yukiko Kawashima, Masahiro Kitao, Hiroyuki Tokunaga, Eriko Miyoshi, Yasuo Ohsumi, Shozo Tsugawa, Koichiro Ohta, Tomohiko Katagiri, Toyomasa Ohtsuru, Shigeru Koike, Kaoru Ogawa, Seishi Toi, Masakazu Iwata, Hiroji Nakamura, Seigo Matsuo, Keitaro Takata, Minoru 京都大学 DOI:10.1002/cam4.5430

2023.03

概要

The aldehyde degrading function of the ALDH2 enzyme is impaired by Glu504Lys polymorphisms (rs671, termed A allele), which causes alcohol flushing in east Asians, and elevates the risk of esophageal cancer among habitual drinkers. Recent studies suggested that the ALDH2 variant may lead to higher levels of DNA damage caused by endogenously generated aldehydes. This can be a threat to genome stability and/or cell viability in a synthetic manner in DNA repair-defective settings such as Fanconi anemia (FA). FA is an inherited bone marrow failure syndrome caused by defects in any one of so far identified 22 FANC genes including hereditary breast and ovarian cancer (HBOC) genes BRCA1 and BRCA2. We have previously reported that the progression of FA phenotypes is accelerated with the ALDH2 rs671 genotype. Individuals with HBOC are heterozygously mutated in either BRCA1 or BRCA2, and the cancer-initiating cells in these patients usually undergo loss of the wild-type BRCA1/2 allele, leading to homologous recombination defects. Therefore, we hypothesized that the ALDH2 genotypes may impact breast cancer development in BRCA1/2 mutant carriers. We genotyped ALDH2 in 103 HBOC patients recruited from multiple cancer centers in Japan. However, we were not able to detect any significant differences in clinical stages, histopathological classification, or age at clinical diagnosis across the ALDH2 genotypes. Unlike the effects in hematopoietic cells of FA, our current data suggest that there is no impact of the loss of ALDH2 function in cancer initiation and development in breast epithelium of HBOC patients.

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SUPPORTING INFORMATION

Additional supporting information can be found online

in the Supporting Information section at the end of this

article.

How to cite this article: Mori T, Okamoto Y, Mu

A, et al. Lack of impact of the ALDH2 rs671 variant

on breast cancer development in Japanese

BRCA1/2-­mutation carriers. Cancer Med.

2023;12:6594-6602. doi: 10.1002/cam4.5430

20457634, 2023, 6, Downloaded from https://onlinelibrary.wiley.com/doi/10.1002/cam4.5430 by Cochrane Japan, Wiley Online Library on [25/10/2023]. See the Terms and Conditions (https://onlinelibrary.wiley.com/terms-and-conditions) on Wiley Online Library for rules of use; OA articles are governed by the applicable Creative Commons License

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