Background With the increasing use of multigene panel tests, pathogenic and likely pathogenic (P/LP) variants are identified more frequently in the moderate‐penetrance breast cancer genes ATM and CHEK2. Lifetime breast cancer risk among women with P/LP variants in these genes generally exceeds 20%, meeting the threshold at which high‐risk breast cancer screening through breast magnetic resonance imaging (MRI) is recommended. Methods Among a registry‐based sample of 56 ATM and 69 CHEK2 carriers, the authors sought to determine the percentage of relatives in whom a P/LP variant would impact breast cancer surveillance. Lifetime breast cancer risks for unaffected, female first‐degree and second‐degree relatives were estimated using the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA). Results Among first‐degree relatives of ATM and CHEK2 carriers, only 22.6% and 14.9%, respectively, were found to have lifetime breast cancer risks of ≥20% based on family cancer history alone; however, when including the proband's P/LP variant in the model, these percentages increased significantly to 56.6% and 55.3%, respectively (P < .0001 and P < .0001, respectively). Similar increases in lifetime breast cancer risks were found among second‐degree relatives. Conclusions The results of the current study suggest that the majority of female first‐degree and second‐degree relatives of ATM and CHEK2 carriers do not qualify for breast MRI based on family cancer history alone. Therefore, testing for these genes, as well as awareness of positive moderate‐penetrance breast cancer gene results in the family, may impact MRI eligibility. These findings highlight the potential usefulness of and need for breast cancer risk models that incorporate moderate‐penetrance gene positivity to inform screening recommendations among at‐risk family members.
Introduction: Practice guidelines put forth through the American Society of Clinical Oncology (ASCO) evolved to encompass a new method of testing whereby multiple genes are tested in parallel (i.e., multi-gene panel testing) and racial disparities in genetic testing rates persist. To measure and compare knowledge of inherited cancer predisposition and multi-gene panel testing across racially diverse patient groups, we administered a newly developed and validated knowledge scale aligned with the 2016 ASCO guidelines. Methods: Online survey data inclusive of 14 knowledge questions was collected among Black women diagnosed with breast cancer at or below age 50 recruited through the Tennessee and Florida state cancer registries (“Registry group”; N=39) and an insured, predominately non-Hispanic White patient population referred for cancer genetic risk assessment at the Vanderbilt Hereditary Cancer Clinic (“Clinic group”; N= 55). Demographic and clinical information were compared using Chi-Square and Fisher’s Exact tests. Mean knowledge scores were calculated and compared using multiple regression analysis. Results: Rates of cancer among the Registry and Clinic groups were 100% and 49% (p<.0001), and rates of previous genetic testing were 69% and 13% (p<.0001). Mean knowledge scores were 6.10 and 6.75. When controlling for race, cancer history, and previous genetic testing, knowledge was not significantly different between the two groups (p=0.507). The lowest scoring knowledge questions among the Registry and Clinic groups included: 1) understanding of a variant of uncertain significance (15% and 11%); 2) knowledge of impact of genetic test results on supplemental insurance (21% and 11%); and 3) the types of possible test results (15% and 18%). Conclusion: These findings demonstrate similar knowledge of inherited cancer predisposition between a predominantly non-Hispanic White clinic-based population and a registry-based population of young Black breast cancer survivors; however, additional analyses should be performed as sample size increases. Knowledge about the possible results of genetic testing and the lack of protection against discrimination by supplemental insurers (e.g., life and disability insurance) was low across both groups; thus, should be a focus for improvement given that it could have real-world implications for decision-making. It remains important to assess knowledge of inherited cancer across diverse patient groups to develop effective strategies and interventions to increase knowledge across populations, including those with recognized disparities. Citation Format: Sydney Cadiz, Sonya Reid, Brenda Zuniga, Ann Tezak, Anne Weidner, Tuya Pal. Assessing knowledge of genetic testing for inherited cancer among registry-based young black breast cancer survivors and predominantly non-Hispanic white clinic-based patients [abstract]. In: Proceedings of the Twelfth AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2019 Sep 20-23; San Francisco, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2020;29(6 Suppl_2):Abstract nr B056.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.