Discovery of cancer risk associations for six novel genes
REYKJAVIK, Iceland, Oct. 29, 2024 /PRNewswire/ --Scientists at deCODE genetics/Amgen, and their collaborators have discovered six novel genes with rare germline variants that associate with cancer risk. The findings are published today in Nature Genetics under the title "Gene-based burden tests of rare germline variants identify six cancer susceptibility genes".
Kari Stefansson senior author of the paper, “Gene-based burden tests of rare germline variants identify six cancer susceptibility genes”, published today in Nature Genetics, discusses the paper with Erna V. Ivarsdottir first author on the paper.
A subset of cancers arises in individuals who are born with rare sequence variants that significantly alter their cancer risk. The discovery of such variants, like those in the BRCA1- and BRCA2 genes, has led to improved early cancer detection and the development of targeted therapies, ultimately reducing the cancer burden and improving prognosis of those carrying these mutations.
In this study, the scientists analysed three large genetic datasets from individuals of European descent, including 130,991 cancer patients and 733,486 controls. Through a gene-based burden association analysis across 22 different cancer types, they found four novel genes associated with a risk of developing cancer; the pro-apoptotic BIK for prostate cancer, the autophagy involved ATG12 for colorectal cancer, TG for thyroid cancer, and CMTR2 for both lung cancer and cutaneous melanoma. The relative increase in cancer risk conferred by these variants was substantial (90-295%), but it should be noted that the design of the study does not allow accurate assessment of absolute lifetime cancer risk.
Additionally, the researchers found the first genes with rare variants that are associated with a decreased risk of cancer. Specifically, loss of AURKB was found to protect against any cancer type, and loss of PPP1R15A was associated with 53% lower risk of breast cancer. This suggests that inhibition of PPP1R15A may be a therapeutic option for breast cancer.
The study revealed new insight into the biological mechanisms involved in cancer predisposition that will hopefully lead to better screening and treatment strategies.
Kari Stefansson CEO of deCODE genetics and senior author on the paper in Nature Genetics, with Erna V. Ivarsdottir scientists at deCODE genetics and first author.
PR Newswire Asia Ltd.
PR Newswire
1954年に設立された世界初の米国広報通信社です。配信ネットワークで全世界をカバーしています。Cision Ltd.の子会社として、Cisionクラウドベースコミュニケーション製品、世界最大のマルチチャネル、多文化コンテンツ普及ネットワークと包括的なワークフローツールおよびプラットフォームを組み合わせることで、様々な組織のストーリーを支えています。www.prnasia.com
本プレスリリースは発表元が入力した原稿をそのまま掲載しております。また、プレスリリースへのお問い合わせは発表元に直接お願いいたします。
プレスリリース添付画像
このプレスリリースには、報道機関向けの情報があります。
プレス会員登録を行うと、広報担当者の連絡先や、イベント・記者会見の情報など、報道機関だけに公開する情報が閲覧できるようになります。
