目的:ATM基因是BRCA1/2后最常见的乳腺癌(BC)易感基因之一,已被证明是中度BC易感基因。目前尚不清楚ATM种系突变与BC临床特征之间的关联。在这篇文章中,研究了具有ATM种系杂合突变的BC患者的临床病理特征。
方法:检查了2020年1月至2022年12月在三级医院医学遗传学部门住院的患者。只有有致病性突变的侵袭性BC患者,可能的致病突变,或显著性不确定的变体(VUS)被纳入研究.
结果:总而言之,121名患者被纳入研究。患者首次诊断为癌症的中位年龄为44岁。在患者总数中,75.2%(91)为浸润性导管癌的组织学亚型,43%(52)具有管腔B分子亚型特征。在16个月的中位随访中,5.8%(7)的患者在对侧乳腺发生癌症。此外,7.4%(9)的患者在随访期间发展为第二原发癌。当患者根据ATM变异分类进行比较时,本地化,组织学类型,所有组之间的BC和分子亚型均无差异(分别为;p=0.68,p=0.65,p=0.32)。
结论:据我们所知,这是第一份评估土耳其人群中具有种系杂合ATM突变的BC患者的临床和病理特征的出版物.当根据ATM突变的变异分类比较患者时,患者的组织学和分子亚型相似。
OBJECTIVE: The ATM gene is one of the most common breast cancer (BC) susceptibility genes after BRCA1/2 and has been shown to be a moderate BC susceptibility gene. The association between ATM germline mutation and clinical features of BC is now unknown. In this article, clinicopathological features of BC patients with ATM germline
heterozygous mutation were investigated.
METHODS: Patients admitted to the Medical Genetics department of a tertiary hospital between January 2020 and December 2022 were examined. Only invasive BC patients with pathogenic mutation, likely pathogenic mutation, or variants of uncertain significance (VUS) were included in the study.
RESULTS: In all, 121 patients were included in the study. The median age at the first cancer diagnosis of the patients was 44 years. Of the total number of patients, 75.2% (91) had the histological subtype of infiltrating ductal carcinoma, and 43% (52) had Luminal B molecular subtype features. At a median follow-up of 16 months, 5.8% (7) of patients developed cancer in the contralateral breast. In addition, 7.4% (9) of the patients developed a second primary cancer during follow-up. When the patients were compared according to ATM variant classification, the localization, histologic types, and molecular subtypes of the BC were not different between all groups (respectively; p=0.68, p=0.65, p=0.32).
CONCLUSIONS: To the best of our knowledge, this is the first publication that evaluates the clinical and pathological characteristics of BC patients with germline
heterozygous ATM mutations in the Turkish population. When patients were compared according to variant classifications of ATM mutation, patients\' histological and molecular subtypes were similar.