索马里籍卵巢癌患者的基因致病变异率很高

IF 1.2 Q3 OBSTETRICS & GYNECOLOGY
José V. Somohano-Short , Natasha Crawford , Mahmoud A. Khalifa , Britt K. Erickson
{"title":"索马里籍卵巢癌患者的基因致病变异率很高","authors":"José V. Somohano-Short ,&nbsp;Natasha Crawford ,&nbsp;Mahmoud A. Khalifa ,&nbsp;Britt K. Erickson","doi":"10.1016/j.gore.2024.101538","DOIUrl":null,"url":null,"abstract":"<div><div>The objective of this study was to determine the rate of germline high risk ovarian cancer susceptibility pathogenic variants in Somali patients with ovarian carcinoma treated at a single institution between 2015 and 2022. Out of eight identified patients, five underwent germline and/or somatic testing, revealing a high prevalence (3 of 5, 60 %) of a BRIP1 splice site mutation (c.1936 + 1G &gt; A). Additionally, one patient had a BRCA2 pathogenic variant, and two had the same MLH1 variant of uncertain significance. The high prevalence of BRIP1 pathogenic variants warrants further study into a possible founder effect within the Somali population, emphasizing the need for targeted genetic screening and counseling. The study also highlights significant barriers to genetic testing, pointing to the critical role of healthcare disparities and social determinants of health (SDoH) in cancer outcomes. Comprehensive genomic profiling and community-based research are essential to address these disparities and improve cancer care for this underserved population. Larger studies are needed to validate these findings and to develop tailored interventions that enhance the prevention, diagnosis, treatment, and prognosis of ovarian cancer in Somali women.</div></div>","PeriodicalId":12873,"journal":{"name":"Gynecologic Oncology Reports","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"High Rates of Germline Pathogenic Variants in Somali Patients with Ovarian Cancer\",\"authors\":\"José V. Somohano-Short ,&nbsp;Natasha Crawford ,&nbsp;Mahmoud A. Khalifa ,&nbsp;Britt K. Erickson\",\"doi\":\"10.1016/j.gore.2024.101538\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>The objective of this study was to determine the rate of germline high risk ovarian cancer susceptibility pathogenic variants in Somali patients with ovarian carcinoma treated at a single institution between 2015 and 2022. Out of eight identified patients, five underwent germline and/or somatic testing, revealing a high prevalence (3 of 5, 60 %) of a BRIP1 splice site mutation (c.1936 + 1G &gt; A). Additionally, one patient had a BRCA2 pathogenic variant, and two had the same MLH1 variant of uncertain significance. The high prevalence of BRIP1 pathogenic variants warrants further study into a possible founder effect within the Somali population, emphasizing the need for targeted genetic screening and counseling. The study also highlights significant barriers to genetic testing, pointing to the critical role of healthcare disparities and social determinants of health (SDoH) in cancer outcomes. Comprehensive genomic profiling and community-based research are essential to address these disparities and improve cancer care for this underserved population. Larger studies are needed to validate these findings and to develop tailored interventions that enhance the prevention, diagnosis, treatment, and prognosis of ovarian cancer in Somali women.</div></div>\",\"PeriodicalId\":12873,\"journal\":{\"name\":\"Gynecologic Oncology Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2024-10-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gynecologic Oncology Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2352578924002170\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gynecologic Oncology Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2352578924002170","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

本研究旨在确定2015年至2022年期间在一家机构接受治疗的索马里籍卵巢癌患者的种系高风险卵巢癌易感性致病变异率。在确定的 8 名患者中,有 5 人接受了种系和/或体细胞检测,结果显示 BRIP1 剪接位点突变(c.1936 + 1G >A)的发生率很高(5 人中有 3 人,占 60%)。此外,一名患者有 BRCA2 致病变异,两名患者有同样的 MLH1 变异,但意义不明。BRIP1 致病变体的高发病率促使人们进一步研究索马里人口中可能存在的始祖效应,强调了有针对性的基因筛查和咨询的必要性。该研究还强调了基因检测的重大障碍,指出了医疗差距和健康的社会决定因素(SDoH)在癌症结果中的关键作用。全面的基因组分析和以社区为基础的研究对于解决这些差异和改善这一服务不足人群的癌症治疗至关重要。需要进行更大规模的研究来验证这些发现,并制定有针对性的干预措施,以加强索马里妇女卵巢癌的预防、诊断、治疗和预后。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
High Rates of Germline Pathogenic Variants in Somali Patients with Ovarian Cancer
The objective of this study was to determine the rate of germline high risk ovarian cancer susceptibility pathogenic variants in Somali patients with ovarian carcinoma treated at a single institution between 2015 and 2022. Out of eight identified patients, five underwent germline and/or somatic testing, revealing a high prevalence (3 of 5, 60 %) of a BRIP1 splice site mutation (c.1936 + 1G > A). Additionally, one patient had a BRCA2 pathogenic variant, and two had the same MLH1 variant of uncertain significance. The high prevalence of BRIP1 pathogenic variants warrants further study into a possible founder effect within the Somali population, emphasizing the need for targeted genetic screening and counseling. The study also highlights significant barriers to genetic testing, pointing to the critical role of healthcare disparities and social determinants of health (SDoH) in cancer outcomes. Comprehensive genomic profiling and community-based research are essential to address these disparities and improve cancer care for this underserved population. Larger studies are needed to validate these findings and to develop tailored interventions that enhance the prevention, diagnosis, treatment, and prognosis of ovarian cancer in Somali women.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Gynecologic Oncology Reports
Gynecologic Oncology Reports OBSTETRICS & GYNECOLOGY-
CiteScore
2.00
自引率
0.00%
发文量
183
审稿时长
41 days
期刊介绍: Gynecologic Oncology Reports is an online-only, open access journal devoted to the rapid publication of narrative review articles, survey articles, case reports, case series, letters to the editor regarding previously published manuscripts and other short communications in the field of gynecologic oncology. The journal will consider papers that concern tumors of the female reproductive tract, with originality, quality, and clarity the chief criteria of acceptance.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信