癌症以外的实体瘤与种系ATM杂合性相关

IF 0.1 Q4 MEDICINE, GENERAL & INTERNAL
MD Oktay Ünsal, O. Yazıcı, N. Özdemir, Büşra Güvercin, A. Özet, Mehmet Ali Ergün
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引用次数: 0

摘要

目的:ATM杂合性与癌症,特别是癌症的发病风险增加有关。本报告揭示了癌症以外的实体瘤患者与生殖系ATM杂合性相关的特征。方法:对2020年1月至2023年间入住医学遗传学系的种系ATM杂合突变患者进行回顾性评估。被诊断为癌症以外实体瘤的患者,至少随访6个月,纳入研究。使用SPSS软件版本23对患者的数据进行检查。结果:36例患者诊断为癌症的中位年龄为52.5(23-65)岁。中位随访期为29.5(11-283)个月。结直肠癌癌症是最常见的诊断(30.6%)。在随访中,27.8%(10例)的患者被诊断为第二原发性实体瘤。发展为第二原发性恶性肿瘤的中位时间为9(3-156)个月。这10例患者中最常见的诊断是乳腺癌症(80%-8例)。结论:与种系ATM杂合性相关的癌症以外的各种实体瘤的发展突出了ATM与癌症易感性相关的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Solid Tumors other than Breast Cancer are Associated with Germ-line ATM Heterozygosity
Objective: It is known that ATM heterozygosity is associated with increased risk of cancer, especially for breast cancer. This report reveals the characteristics of the patients with solid tumors other than breast cancer, associated with Germ-line ATM heterozygosity. Methods: Patients with germline ATM heterozygous mutation, admitted to the Department of Medical Genetics between January 2020 to 2023 were evaluated retrospectively. Patients with a diagnosis of solid tumors other than breast cancer, being followed up for at least 6 months were included in the study. Data of the patients were examinated using the SPSS software version 23. Results: Median aged at cancer diagnosis of 36 patients were 52.5 (23-65) years. The median follow-up period was 29.5 (11-283) months. Colorectal cancer was the most common diagnosis (30.6%). At follow-up, second primary solid malignancy was diagnosed in 27.8% (10 patients) of the patients. The median time for development of second primary malignancy were 9 (3-156) months. Most common diagnosis of these 10 patients were breast cancer (80%-8 patients). Conclusion: Development of various solid tumors other than breast cancer related to Germ-line ATM heterozygosity highlights the importance of ATM linked to cancer susceptibility.
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来源期刊
Gazi Medical Journal
Gazi Medical Journal MEDICINE, GENERAL & INTERNAL-
CiteScore
0.30
自引率
0.00%
发文量
105
审稿时长
16 weeks
期刊介绍: Gazi Medical Journal is being published from 1990 four times annually. Gazi Medical Journal is an international journal presenting research results in all medical fields, with the aim of becoming the premier source of high quality research from Eastern Europe , Middle East and Asia. The Gazi Medical Journal is peer-reviewed and is published quarterly in paper and electronic version. The language of the Gazi Medical Journal is English and Turkish. Offerings include research articles, rapid communications, case reports, letters to the editor, meta-analyses and commentaries
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