期刊
BRITISH JOURNAL OF CANCER
卷 126, 期 5, 页码 791-796出版社
SPRINGERNATURE
DOI: 10.1038/s41416-021-01622-4
关键词
-
类别
资金
- Patrick C Walsh Hereditary Prostate Cancer program
A novel HOXB13 variant, X285K, was found in African-American men with prostate cancer, showing an association with increased risk of clinically significant and early onset PCa. This variant, although rare in the population, holds translational potential as an important susceptibility marker in high-risk African-American population.
Background: Recently, a novel HOXB13 variant (X285K) was observed in men of African descent with prostate cancer (PCa) in Martinique. Little is known about this or other variants in HOXB13 which may play a role in PCa susceptibility in African-American (AA) men. Methods: We sequenced HOXB13 in an AA population of 1048 men undergoing surgical treatment for PCa at Johns Hopkins Hospital. Results: Seven non-synonymous germline variants were observed in the patient population. While six of these variants were seen only once, X285K was found in eight patients. In a case-case analysis, we find that carriers of this latter variant are at increased risk of clinically significant PCa (1.2% carrier rate in Gleason Score >= 7 PCa vs. 0% in Gleason Score <7 PCa, odds ratio, OR = inf; 95% Confidence Interval, 95%CI:1.05-inf, P = 0.028), as well as PCa with early age at diagnosis (2.4% carrier rate in patients <50 year vs. 0.5% carrier rate in patients >= 50 year, OR = 5.25, 95% CI:1.00-28.52, P = 0.03). Conclusions: While this variant is rare in the AA population (similar to 0.2% MAF), its ancestry-specific occurrence and apparent preferential association with risk for the more aggressive disease at an early age emphasizes its translational potential as an important, novel PCa susceptibility marker in the high-risk AA population.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据