美通社

2024-10-29 18:00

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.
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.

 

source: deCODE genetics

【你點睇?】DeepSeek發布受到關注,惟美國正調查其有否透過第三方購入先進晶片,你認為美方會否封鎖DeepSeek?► 立即投票

人氣文章
最近7天
1
高息定存 | 6個月港元定存3.8厘新高,188日快閃優惠3.68厘
2
高息定存 | 富邦推快閃定存優惠3個月3.9厘,華僑188日3.68厘
3
港股 | 蕭猷華:內地AI發展迅速,阿里巴巴股價看俏
4
港股 | 蕭猷華:恒指料退守至18600點,宜逢低吸納
5
內銀股 | 人行再提擇機減息降準,內銀獲中金唱好,應該點部署?
6
大國博弈 | 【FOCUS】騰訊商湯寧德重挫,CMC清單劍指軍民融合
7
加州山火 | 【FOCUS】洛杉磯烈火焚城,天災背後藏人禍
8
新股掛牌 | 布魯可首日掛牌升41%,每手賺7395元
9
高息定存 | 一周高息合集,銀行高息搶存,富邦1個月4.88厘,華僑1年期3.6厘
10
高息定存 | 一周高息合集,恒生1個月定存4厘,工銀亞洲3個月最高5厘
11
英偉達 | DeepSeek衝擊AI晶片行業結構 英偉達暴跌仍未急抄底
12
高息定存 | 渣打特選客6個月3.48厘,建行亞洲推1個月6.18厘高息吸客
13
高息定存 | 花旗3個月港元定存息加至4厘,信銀國際3.88厘
14
一本萬利 | 2025年的五個「勿」(有片)
15
互聯支付 | 黃俊碩:轉數快與IBPS互聯支付所產生的發展契機
16
環球央行 | 歐洲央行宣布再次減息0.25厘,符合市場預期
17
高息定存 | 一周高息合集,銀行高息吸客,低門檻10萬享6.18厘,3個月最高5厘
18
港股 | 蕭猷華:恒指春節前目標21500點
19
財政預算案2025 | 羅兵咸料本財年財赤948億,財政儲備降至紀錄新低
20
專訪|洪灝:美股更大跌幅在前面,恐需習慣4%通脹(有片)
21
神州經脈 | 基金賣股票據報受限,滬指連跌四日,人行穩匯率
22
習近平應約與特朗普通電話,特:冀盡快與習見面
23
加州山火 | 美國洛杉磯大火失控,被迫撤離人數增至18萬
24
【FOCUS】去年貿易順差破紀錄,中國擴消費增緊迫感
25
【FOCUS】侵侵就職倒數一周,美元及油價劇本臨揭盅
26
高息定存 | 一周高息合集,部分銀行逆市加息,南商3個月加至3.8厘
27
加州山火造成超500億美元損失,大量房主未買保險
28
賣地計劃 | 政府今季推一幅東涌住宅地涉745伙,全年供應不達標
29
雷賢達觀點 | 香港篇:恒指年波幅料六千點,港須全面融入大灣區
30
新世界 | 摩通:新世界若債務違約或打開行業「潘朵拉盒子」
專業版
HV2
精裝版
SV2
串流版
IQ 登入
強化版
TQ
強化版
MQ

【etnet 30周年】多重慶祝活動一浪接一浪,好禮連環賞!

【蛇年行大運 新年好賞「飾」】etnet賞太歲開運趨吉避凶神器

etnet榮獲HKEX Awards 2023 「最佳證券數據供應商」大獎

貨幣攻略

大國博弈

說說心理話

聖誕新年特輯

Watch Trends 2024

北上食買玩

Art Month 2024

秋天養生食療

山今養生智慧

輕鬆護老