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乳腺癌在患有初级卵巢缺陷的妇女中增加

Kristina Allen-Brady¹, Barry Moore², Lauren E Verrilli^3,4

¹Division of Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.

The Journal of clinical endocrinology and metabolism

|July 12, 2024

概括

患有原发性卵巢缺陷 (POI) 的女性患乳腺癌和卵巢癌的风险更高. 他们的亲属也显示乳腺癌,结肠癌和前列腺癌的风险增加,这表明他们有共同的遗传因素.

科学领域:

遗传学和基因组学遗传学和基因组学
在瘤学瘤学.
生殖内分泌学生殖内分泌学

背景情况:

DNA损伤/修复基因的变异与原发性卵巢缺陷 (POI) 和癌症易感性有关.
一个假设提出了被诊断为POI的妇女及其家属的潜在癌症风险增加.

研究的目的:

调查被诊断患有原发性卵巢缺陷 (POI) 的女性癌症风险.
评估POI妇女亲属的癌症风险.
探索POI和癌症的潜在共同遗传基础.

主要方法:

一项基于人口的病例控制研究使用从1995年到2022年的健康记录进行.
确定了POI (n=613) 的妇女,并使用犹他州人口数据库将她们的亲属联系起来.
从犹他州癌症登记处获得癌症诊断,并将相对风险与人口率进行比较. 全基因组测序是在一个子集上进行的.

主要成果:

患有POI的女性表现出患乳腺癌的风险增加 (OR,2.20) 和卵巢癌的名义上显著增加.
二级亲属显示乳腺癌 (OR,1.28) 和结肠癌 (OR,1.50) 的风险增加.
第一个 (OR,1.64),第二个 (OR,1.54) 和第三级亲属 (OR,1.33) 的前列腺癌风险都较高.

结论:

研究结果表明,一种共同的遗传倾向将原发性卵巢缺陷 (POI) 与生殖癌联系在一起.
开发工具来预测POI妇女的癌症风险是有必要的.
对POI妇女的激素替代疗法风险进行遗传咨询可能是有益的.

关键词:

遗传学遗传学遗传学是一个更年期绝经绝经卵巢癌是发生在卵巢的癌症.前列腺癌是前列腺癌.

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