Abstract Background: The incidence of breast cancer among young women is on the rise. In rural regions, a combination of socioeconomic disadvantages, poor health literacy, and limited access to specialized care exacerbates diagnostic delays, even more so in patients with hereditary risk. This study investigates the stage of presentation, family history, genetic testing uptake, and social determinants of health among young women diagnosed with breast cancer in a community health setting in Appalachia. Methods: This retrospective cohort study included 1,359 patients diagnosed with breast cancer at Tennova North Knoxville Medical Center from 2020 to 2024. Patients were stratified by age, i.e. young patients (45 years) versus (vs) average-onset patients (age ≥45), stage at diagnosis, insurance status, urban vs rural residence, educational attainment, reported family history of cancer, and whether they underwent genetic testing and/or counseling (if positive family history of any cancer). Descriptive statistics were calculated, and bivariate comparisons were performed using Chi-square and t-tests. Logistic regression models were constructed to identify predictors of advanced-stage disease (stages III and IV) at diagnosis and the likelihood of undergoing genetic testing. Results: Of the 1,359 patients included, 16.3% (n=222) patients were 45 years old at diagnosis. Among these young patients, 80.2% (n=178) presented with stage III or IV disease, while 6.3% (n=14) and 13.5% (n=30) were diagnosed at stages I and II, respectively. 81.1% (n=180) reported a first-degree family history of cancer, yet only 16.2% (n=36) received genetic testing and/or counseling. In bivariate analysis, patients with Medicaid or no insurance were significantly more likely to present with advanced stage breast cancer compared to those with private insurance (OR 4.5; 95% CI: 2.6-7.8, p 0.001). Rural residence was also significantly associated with late-stage diagnosis (OR 3.7; 95% CI: 2.0-6.9, p = 0.002). Lower educational attainment (less than high school diploma) was associated with decreased likelihood of receiving genetic testing (OR 0.34; 95% CI: 0.15-0.78, p = 0.01). In multivariate logistic regression, both uninsured status (p 0.001) and absence of genetic counseling among patients with positive family history of cancer (p = 0.002) independently predicted advanced-stage presentation at diagnosis. Conclusions: This study highlights a troubling pattern of late-stage breast cancer diagnosis in young Appalachian women, despite the presence of family history of cancer in 80% of cases. Profound disparities in genetic testing utilization, driven by socioeconomic status, rurality, and health literacy, likely contribute to missed opportunities for early detection. These findings underscore the urgent need for community-based hereditary risk screening programs, access to genetic counseling, and culturally competent education strategies within rural healthcare systems. Citation Format: J. Gill, N. Lopetegui-Lia. Late-stage breast cancer in young appalachian women: missed hereditary risk and persistent disparities in a community health setting abstract. In: Proceedings of the San Antonio Breast Cancer Symposium 2025; 2025 Dec 9-12; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2026;32(4 Suppl):Abstract nr PS4-12-04.
Gill et al. (Tue,) studied this question.