{"title":"探索生殖系基因检测在早期浸润性乳腺癌手术决策中的作用:来自安全网医院的见解。","authors":"Vineeth Kommidi, Manasa Kotamraju, Keerthana Chakka, Sharlene Dong, Alexa Badalamenti, Caitlin Mauer Hall, Ashley Quinn, Emily Goff, Chul Ahn, Ang Gao, Deborah Farr, Samira Syed","doi":"10.1007/s12687-025-00806-2","DOIUrl":null,"url":null,"abstract":"<p><p>Current guidelines recommend contralateral prophylactic mastectomy (CPM) for women with unilateral breast cancer who have pathogenic/likely pathogenic variants (PV) in high-risk genes, but not for those with variants of uncertain significance (VUS). However, VUS results can cause significant psychosocial distress, which may influence surgical decision-making. In safety-net settings, concerns about insurance coverage and additional social determinants of health may further impact CPM decisions. This study examines surgical trends among patients with early-stage invasive breast cancer who underwent genetic testing before surgery at a safety-net hospital in Dallas, Texas between 2012-2022. We performed a retrospective chart review of 300 early-stage breast cancer patients referred for genetic counseling, analyzing demographics, tumor characteristics, genetic testing results, and treatment. Descriptive statistics and regression analyses were performed. The cohort included 116 patients without mutations (control), 111 with VUS, and 73 with PV. 86.30% of PV patients, 30.63% of VUS patients, and 18.10% of the control group underwent CPM. Multivariate analysis identified PV (OR 26.35, 95% CI: 10.97-63.29, p < 0.0001), VUS (OR 2.35, 95% CI: 1.16-4.77, p = 0.0175), and age at diagnosis (OR 0.963, 95% CI: 0.934-0.993, p = 0.0168) as independent predictors of CPM. These findings suggest that factors beyond established guidelines may influence surgical decision-making, particularly for patients in safety-net hospital settings, underscoring the need for thorough provider and patient counseling.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.8000,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Exploring the role of germline genetic testing in surgical decision making for early-stage invasive breast cancer: insights from a safety-net hospital.\",\"authors\":\"Vineeth Kommidi, Manasa Kotamraju, Keerthana Chakka, Sharlene Dong, Alexa Badalamenti, Caitlin Mauer Hall, Ashley Quinn, Emily Goff, Chul Ahn, Ang Gao, Deborah Farr, Samira Syed\",\"doi\":\"10.1007/s12687-025-00806-2\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Current guidelines recommend contralateral prophylactic mastectomy (CPM) for women with unilateral breast cancer who have pathogenic/likely pathogenic variants (PV) in high-risk genes, but not for those with variants of uncertain significance (VUS). However, VUS results can cause significant psychosocial distress, which may influence surgical decision-making. In safety-net settings, concerns about insurance coverage and additional social determinants of health may further impact CPM decisions. This study examines surgical trends among patients with early-stage invasive breast cancer who underwent genetic testing before surgery at a safety-net hospital in Dallas, Texas between 2012-2022. We performed a retrospective chart review of 300 early-stage breast cancer patients referred for genetic counseling, analyzing demographics, tumor characteristics, genetic testing results, and treatment. Descriptive statistics and regression analyses were performed. The cohort included 116 patients without mutations (control), 111 with VUS, and 73 with PV. 86.30% of PV patients, 30.63% of VUS patients, and 18.10% of the control group underwent CPM. Multivariate analysis identified PV (OR 26.35, 95% CI: 10.97-63.29, p < 0.0001), VUS (OR 2.35, 95% CI: 1.16-4.77, p = 0.0175), and age at diagnosis (OR 0.963, 95% CI: 0.934-0.993, p = 0.0168) as independent predictors of CPM. These findings suggest that factors beyond established guidelines may influence surgical decision-making, particularly for patients in safety-net hospital settings, underscoring the need for thorough provider and patient counseling.</p>\",\"PeriodicalId\":46965,\"journal\":{\"name\":\"Journal of Community Genetics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2025-06-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Community Genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s12687-025-00806-2\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Community Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12687-025-00806-2","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
摘要
目前的指南建议对高危基因中有致病/可能致病变异(PV)的单侧乳腺癌女性进行对侧预防性乳房切除术(CPM),但不建议对那些具有不确定意义变异(VUS)的女性进行对侧预防性乳房切除术。然而,VUS结果可引起显著的社会心理困扰,这可能影响手术决策。在安全网环境中,对保险覆盖面和健康的其他社会决定因素的关切可能进一步影响CPM的决定。这项研究调查了2012年至2022年间在德克萨斯州达拉斯的一家安全网医院接受手术前基因检测的早期浸润性乳腺癌患者的手术趋势。我们对300名接受遗传咨询的早期乳腺癌患者进行了回顾性图表回顾,分析了人口统计学、肿瘤特征、基因检测结果和治疗。进行描述性统计和回归分析。该队列包括116例无突变患者(对照组),111例VUS患者和73例PV患者。PV组86.30%,VUS组30.63%,对照组18.10%行CPM。多变量分析确定PV (OR: 26.35, 95% CI: 10.97-63.29, p
Exploring the role of germline genetic testing in surgical decision making for early-stage invasive breast cancer: insights from a safety-net hospital.
Current guidelines recommend contralateral prophylactic mastectomy (CPM) for women with unilateral breast cancer who have pathogenic/likely pathogenic variants (PV) in high-risk genes, but not for those with variants of uncertain significance (VUS). However, VUS results can cause significant psychosocial distress, which may influence surgical decision-making. In safety-net settings, concerns about insurance coverage and additional social determinants of health may further impact CPM decisions. This study examines surgical trends among patients with early-stage invasive breast cancer who underwent genetic testing before surgery at a safety-net hospital in Dallas, Texas between 2012-2022. We performed a retrospective chart review of 300 early-stage breast cancer patients referred for genetic counseling, analyzing demographics, tumor characteristics, genetic testing results, and treatment. Descriptive statistics and regression analyses were performed. The cohort included 116 patients without mutations (control), 111 with VUS, and 73 with PV. 86.30% of PV patients, 30.63% of VUS patients, and 18.10% of the control group underwent CPM. Multivariate analysis identified PV (OR 26.35, 95% CI: 10.97-63.29, p < 0.0001), VUS (OR 2.35, 95% CI: 1.16-4.77, p = 0.0175), and age at diagnosis (OR 0.963, 95% CI: 0.934-0.993, p = 0.0168) as independent predictors of CPM. These findings suggest that factors beyond established guidelines may influence surgical decision-making, particularly for patients in safety-net hospital settings, underscoring the need for thorough provider and patient counseling.
期刊介绍:
The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals.
Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues.
The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries.
The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.