文章：

MUTYH致病性变异的流行率与分布：是否与乳腺癌风险增加相关？

Prevalence and Distribution of MUTYH Pathogenic Variants, Is There a Relation with an Increased Risk of Breast Cancer?

原文发布日期：11 January 2024

DOI: 10.3390/cancers16020315

类型: Article

开放获取: 是

英文摘要：

Background:MUTYHhas been implicated in hereditary colonic polyposis and colorectal carcinoma. However, there are conflicting data refgarding its relationship to hereditary breast cancer. Therefore, we aimed to assess ifMUTYHmutations contribute to breast cancer susceptibility. Methods: We retrospectively reviewed 3598 patients evaluated from June 2018 to June 2023 at the Hereditary Cancer Unit of La Paz University Hospital, focusing on those with detectedMUTYHvariants. Results: Variants ofMUTYHwere detected in 56 patients (1.6%, 95%CI: 1.2–2.0). Of the 766 patients with breast cancer, 14 patients were carriers ofMUTYHmutations (1.8%, 95%CI: 0.5–3.0). The prevalence ofMUTYHmutation was significantly higher in the subpopulation with colonic polyposis (11.3% vs. 1.1%,p< 0.00001, OR = 11.2, 95%CI: 6.2–22.3). However, there was no significant difference in the prevalence within the subpopulation with breast cancer (1.8% vs. 1.5%,p= 0.49, OR = 1.2, 95%CI: 0.7–2.3). Conclusion: In our population, we could not establish a relationship betweenMUTYHand breast cancer. These findings highlight the necessity for a careful interpretation when assessing the role ofMUTYHmutations in breast cancer risk.

摘要翻译： 

背景：MUTYH基因已被证实与遗传性结肠息肉病及结直肠癌相关。然而，关于其与遗传性乳腺癌关系的现有数据存在矛盾。因此，本研究旨在评估MUTYH基因突变是否影响乳腺癌易感性。方法：我们回顾性分析了2018年6月至2023年6月在拉巴斯大学医院遗传性肿瘤科接受评估的3598例患者，重点关注携带MUTYH基因变异的病例。结果：在56例患者中检测到MUTYH基因变异（1.6%，95%CI：1.2–2.0）。在766例乳腺癌患者中，14例携带MUTYH基因突变（1.8%，95%CI：0.5–3.0）。结肠息肉病亚组中MUTYH突变检出率显著更高（11.3% vs. 1.1%，p < 0.00001，OR = 11.2，95%CI：6.2–22.3）。但在乳腺癌亚组中，突变检出率未见显著差异（1.8% vs. 1.5%，p = 0.49，OR = 1.2，95%CI：0.7–2.3）。结论：在本研究人群中，未能建立MUTYH基因与乳腺癌的关联。这些发现提示，在评估MUTYH突变对乳腺癌风险的作用时需谨慎解读。

原文链接：

Prevalence and Distribution of MUTYH Pathogenic Variants, Is There a Relation with an Increased Risk of Breast Cancer?