MUTYH致病变体的患病率与分布：它与乳腺癌风险增加有关吗？

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

作者信息

Peña-López Jesús, Jiménez-Bou Diego, Ruíz-Gutiérrez Icíar, Martín-Montalvo Gema, Alameda-Guijarro María, Rueda-Lara Antonio, Ruíz-Giménez Leticia, Higuera-Gómez Oliver, Gallego Alejandro, Pertejo-Fernández Ana, Sánchez-Cabrero Darío, Feliu Jaime, Rodríguez-Salas Nuria

机构信息

Department of Medical Oncology, Hospital Universitario La Paz, 28046 Madrid, Spain.

Department of Medical Oncology, Clínica Universidad de Navarra, 28027 Madrid, Spain.

出版信息

Cancers (Basel). 2024 Jan 11;16(2):315. doi: 10.3390/cancers16020315.

DOI:10.3390/cancers16020315

PMID:38254803

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10813893/

Abstract

BACKGROUND

has 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 if mutations 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 detected variants.

RESULTS

Variants of were detected in 56 patients (1.6%, 95%CI: 1.2-2.0). Of the 766 patients with breast cancer, 14 patients were carriers of mutations (1.8%, 95%CI: 0.5-3.0). The prevalence of mutation was significantly higher in the subpopulation with colonic polyposis (11.3% vs. 1.1%, < 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%, = 0.49, OR = 1.2, 95%CI: 0.7-2.3).

CONCLUSION

In our population, we could not establish a relationship between and breast cancer. These findings highlight the necessity for a careful interpretation when assessing the role of mutations in breast cancer risk.

摘要

背景

已被认为与遗传性结肠息肉病和结直肠癌有关。然而，关于其与遗传性乳腺癌的关系存在相互矛盾的数据。因此，我们旨在评估突变是否会增加患乳腺癌的易感性。

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癌症科评估的3598例患者，重点关注检测到变异的患者。

结果

在56例患者（1.6%，95%可信区间：1.2 - 2.0）中检测到变异。在766例乳腺癌患者中，14例是突变携带者（1.8%，95%可信区间：0.5 - 3.0）。结肠息肉病亚组中突变的患病率显著更高（11.3%对1.1%，<0.00001，比值比=11.2，95%可信区间：6.2 - 22.3）。然而，乳腺癌亚组中的患病率没有显著差异（1.8%对1.5%，=0.49，比值比=1.2，95%可信区间：0.7 - 2.3）。