We determined triple-negative breast cancer (TNBC) subtypes, genetic ancestry, and immune features in a cohort of self-reported Black females with TNBC diagnosed at or below age 50. Among 104 tumors, 34.6% were basal-like 1 (BL1), 17.3% basal-like 2 (BL2), 9.6% luminal androgen receptor (LAR), 26.9% mesenchymal (M), and 11.5% unsubtyped (UNS). Subtypes resembled those seen in Europeans or East Asians, with less LAR (9.6% vs. 14.6–24.4%) and more UNS (11.5% vs. 0–7.5%). “High” proportion of West African ancestry was associated with more LAR (14.9% vs. 4.9%) and less M (25.5% vs. 34.2%). M demonstrated reduced immune activity and was marginally associated with worse overall survival in a multivariate model including stage, West African ancestry, BMI, and TILs, meriting future research. Our study is the largest to date of TNBC subtypes in young Black females. These results reinforce TNBC subtypes’ application across populations and potential use as a prognostic biomarker.

Purpose: Scalable solutions are needed to make pre-test genetic education about inherited cancer risk accessible across diverse and underserved populations. We evaluated an automated strategy to deliver genetic education through a web-based video among young Black females with breast cancer. Methods: 96 participants were recruited through state cancer registries in Florida and Tennesee. All participants viewed a 12 min video and completed a ten question quiz on inherited cancer knowledge before and after viewing the video. Median pre- and postvideo knowledge scores were categorized as <60% versus ≥60% and compared across demographic and clinical characteristics using binary logistic regression. Results: Of the 96 participants, mean age was 51, over 50% had income <$50 K, over 40% did not graduate college or have private insurance, and over 70% had previous genetic testing. Median knowledge scores significantly increased after viewing the video ( p < 001), with no significant differences in those with or without prior testing. A higher post-video knowledge score was associated with an income ≥$50 K, a college degree, and private insurance (all p < .05). Conclusion: Among a population of young Black breast cancer patients, the educational video significantly increased knowledge. Findings support the use of automated pre-test educational tools as a scalable solution to make these services more accessible across populations.

Breast cancer (BC) risks imparted by CHEK2 c.1100delC (“1100delC”) germline pathogenic/likely pathogenic variant (GPV) are 20–30%, compared to CHEK2 c.470T>C (“I157T”) GPV with <20%, leading to different breast screening recommendations through MRI. We compared cancer risk management (CRM) across these two GPVs. Study participants were adult females with an 1100delC or I157T GPV drawn from the Inherited Cancer Registry (ICARE) across the United States. Cancer history, clinical characteristics, and CRM were compared using chi-squared tests, t-tests, and logistic regression. Of 150 CHEK2 carriers, 40.7% had BC, with a mean age of 50. Comparing 1100delC and I157T GPVs, there were no differences in rates of (1) breast MRI among those with (65.2% versus 55.6% of 23 and 9; p = 0.612) and without (44.0% versus 44.8% of 50 and 29; p = 0.943) BC; (2) risk-reducing mastectomy among those with (50% versus 38.9% of 46 and 15; p = 0.501) and without (13.8% versus 6.5% of 58 and 31; p = 0.296) BC; and (3) risk-reducing salpingo-oophorectomy among those with (24.2% versus 22.2% of 45 and 18; p = 0.852) and without (17.5% versus 16.7% of 57 and 30; p = 0.918) BC. The results suggest over-screening with breast MRI among CHEK2 I157T GPV carriers and possible overuse of risk-reducing surgeries among CHEK2 carriers.

A Variant of Uncertain Significance (VUS) is a difference in the DNA sequence with uncertain consequences for gene function. A VUS in a hereditary cancer gene should not change medical care, yet some patients undergo medical procedures based on their VUS result, highlighting the unmet educational needs among patients and healthcare providers. To address this need, we developed, evaluated, and refined novel educational materials to explain that while VUS results do not change medical care, it remains important to share any personal or family history of cancer with family members given that their personal and family medical history can guide their cancer risk management. We began by reviewing the prior literature and transcripts from interviews with six individuals with a VUS result to identify content and design considerations to incorporate into educational materials. We then gathered feedback to improve materials via a focus group of multidisciplinary experts and multiple rounds of semi-structured interviews with individuals with a VUS result. Themes for how to improve content, visuals, and usefulness were used to refine the materials. In the final round of interviews with an additional 10 individuals with a VUS result, materials were described as relatable, useful, factual, and easy to navigate, and also increased their understanding of cancer gene VUS results.

Background: Germline pathogenic and likely pathogenic variants (GPV) in cancer susceptibility genes may guide medical care. However, inaccurate recall of test results by patients may impact the uptake of appropriate medical care, underscoring the importance of accurate recall of results. Methods: Among individuals with a confirmed cancer susceptibility GPV that alters cancer risk management, individuals were categorized based on their accuracy of recall. Multiple logistic regression was performed to determine demographic and psychosocial factors associated with recall of test results. Results: Of 807 participants, 91 (11%) failed to accurately recall their test results, including 22 who did not remember being tested and 69 whose cancer risk management could be impacted due to inaccurate recall of test result details. Compared to those with accurate recall of test results, those who failed to accurately recall their results were significantly more likely to have a history of cancer [OR = 2.24, p = 0.009] and lack a college degree [OR = 2.42, p < 0.029]. Additionally, based on standardized survey responses, failure to accurately recall was associated with positive feelings about their results [OR = 1.73, p < 0.001], lower emotional distress [OR = 0.65, p = 0.004], lower knowledge about hereditary cancer [OR = 0.67, p < 0.001], and lower satisfaction with family communication and support related to testing [OR = 0.62, p < 0.001]. Participants with GPVs in high‐risk or moderate‐risk breast cancer genes were substantially less likely to demonstrate inaccurate recall (both OR = 0.18, p < 0.001) compared to those with GPVs in other actionable cancer genes. Discussion: Given 11% of participants failed to remember being tested or failed to accurately recall their result, this highlights the importance of documentation and accessibility of test results by both patients and providers to ensure patients receive appropriate care.