The Impact of Missed Opportunities for Genetic Testing Prior to a Cancer Diagnosis on Patient Outcomes

Document Type

Conference Proceeding

Publication Date

5-1-2026

Publication Title

Gynecol Oncol

Keywords

aged, breast cancer, cancer diagnosis, conference abstract, controlled study, diagnosis, endometrium, family history, female, genetic screening, heterozygote, human, major clinical study, mortality rate, ovary cancer, retrospective study, risk-reducing bilateral salpingo-oophorectomy, surgery, treatment outcome

Abstract

Objectives: BRCA1 and BRCA2 are known to increase the risk of breast cancer. Identification of these heritable mutations leads to enhanced screening for several cancers, including breast, endometrial, and ovarian. This study is designed to identify missed opportunities for genetic testing prior to diagnosis of breast cancer. Secondary aims included determining how delays in genetic testing affected patient outcomes, as well as factors affecting mortality. Methods: This is an IRB approved (#17568) retrospective review of all patients diagnosed with breast cancer from 2014–2024 at a single institution. All patients with a pathogenic mutation or VUS in the BRCA1 and BRCA2 gene were included. Additional data, including family history, other personal history of cancer, and treatment plan, stage and mortality were extracted from the medical record. N(%) was used to summarize the categorical data. Fisher's exact tests were applied to examine differences in mortality. Statistical significance was pre-specified at p < 0.05. Results: 126 women were diagnosed with BRCA positive breast cancer in this population with an average age at diagnosis of 48.70 years. There were 101 (80.2) patients who met NCCN criteria for genetic testing based on family history documented. Additionally, 25 (19.8%) had family history meeting criteria for testing documented prior to cancer diagnosis. While 61(48.4%) patients subsequently underwent risk-reducing bilateral salpingo-oophorectomy, 2 (1.6%) developed ovarian cancer. 14 (11.1%) patients died secondary to their breast cancer. There were highly significant differences in mortality for BRCA1/2 pathogenic mutations and with the inclusion of variants of unknown significance (VUS) when compared to the population mortality rate of 18.6 per 100k [CDC 2023], but no significant differences between mortality for BRCA1 or 2 when compared to each other. Mortality for earlier stage (I-II) was 4.3% versus later stages (III-IV) 29.4% (p = 0.003). Finally patients who had non-screen detected cancer had a mortality rate of 18.1% versus 1.8% for screen detected (P = 0.004), and were 11.68 times more likely to die from their cancer. Conclusions: This study highlights the current gap in identifying patients that are high-risk for being genetic carriers of BRCA 1 or 2. In this population, those diagnosed at later stages and non-screen detected were more likely to die. Providers need to be vigilant in recording and analyzing family history for patients eligible for genetic screening. This will drive enhanced screening that will aid in earlier diagnosis of malignancy and save lives. This likely can also be applied to other BRCA related cancers, including ovarian and endometrial. [Formula presented]

Volume

208

First Page

S353

Last Page

S354

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