MD Oktay Ünsal, O. Yazıcı, N. Özdemir, Büşra Güvercin, A. Özet, Mehmet Ali Ergün
{"title":"癌症以外的实体瘤与种系ATM杂合性相关","authors":"MD Oktay Ünsal, O. Yazıcı, N. Özdemir, Büşra Güvercin, A. Özet, Mehmet Ali Ergün","doi":"10.12996/gmj.2023.87","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":42791,"journal":{"name":"Gazi Medical Journal","volume":null,"pages":null},"PeriodicalIF":0.1000,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Solid Tumors other than Breast Cancer are Associated with Germ-line ATM Heterozygosity\",\"authors\":\"MD Oktay Ünsal, O. Yazıcı, N. Özdemir, Büşra Güvercin, A. Özet, Mehmet Ali Ergün\",\"doi\":\"10.12996/gmj.2023.87\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":42791,\"journal\":{\"name\":\"Gazi Medical Journal\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.1000,\"publicationDate\":\"2023-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gazi Medical Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.12996/gmj.2023.87\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gazi Medical Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.12996/gmj.2023.87","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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.
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