This application is being submitted in response to the Notice of Special Interest (NOSI) identified as NOT- CA-20-032. Breast cancer is a global health concern as the most common female malignancy in Africa. Its incidence and mortality rates in Africa have increased in the last two decades. Late presentation with advanced disease and poor survival are the hallmarks of breast cancer in women in sub-Sahara Africa (SSA), but there is no screening program. Genetic and non-genetic risk factors can be used to identify women at increased risk so risk-based screening strategies can be cost effective in resource-limited setting. Using data from the Nigerian Breast Cancer Study (NBCS), we have developed a breast cancer risk assessment model suitable for African women with excellent discriminating accuracy but its utility has yet to be evaluated in practice. Furthermore, advances in cancer genetics can identify women at high or very high risk for inherited breast cancer. Recently, we found about 15% of consecutive women with breast cancer in Nigeria, Cameroon, and Uganda carried mutations in susceptibility genes such as BRCA1/2. However, women in SSA at risk for inherited breast and ovarian cancers lack access to lifesaving genetic counseling and actionable genomic tests. We have launched a preliminary genetic counseling and testing study, and enrolled 362 unselected patients with breast, ovarian, endometrial and prostate cancers and 10 referred first degree relatives (FDRs) in through our Collaborators at the University of Ibadan. The proposed supplemental project will help to enhance and strengthen ongoing research training in cancer genomics in Nigeria and test the feasibility of extending the service to Cameroon and other hospitals in Nigeria. We propose to enroll additional 200 breast cancer patients and their first degree relatives to address three specific aims. First, we aim to evaluate the feasibility and utility of NBCS risk assessment tool, and estimate breast cancer risk among female relatives of breast cancer patients in West Africa using the risk tool. Second, we will determine the willingness of breast cancer patients and their relatives to undergo and pay for genetic counseling and testing for inherited cancer. Third, we will conduct next generation sequencing genetic testing and assess ethnic specific Polygenic Risk Score. We will work with investigators in Cameroon to translate our Genetic Counseling tools and NBCS risk assessment tool to French. Our long-term goal is to form a Pan-African Oncogenetics Network, starting in West Africa, by establishing family based genetic screening of high risk women so that these women will have the opportunity for prevention or early detection of breast cancer when it is potentially most curable. The supplemental grant will significant enhance this mission.

Public Health Relevance

The primary objective of this study is to establish, enhance, and expand cancer genetic testing and counselling service in Africa. We plan to form an African Oncogenetics Network. We will also test breast cancer risk assessment tool and integrate it in the genetic testing practice.

National Institute of Health (NIH)
National Cancer Institute (NCI)
Research Project (R01)
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Martin, Damali
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University of Chicago
Public Health & Prev Medicine
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United States
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