Establishing West African Oncogenetics Network

建立西非肿瘤遗传学网络

• 批准号: 10166468
• 负责人: Christopher Alan Haiman
• 金额: $ 18.24万
• 依托单位: UNIVERSITY OF CHICAGO
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-04-19 至 2022-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10166468
• 关键词: 17q; Address; Africa; African; Age; Americas; Assessment tool; Awareness; BRCA1 gene; Breast Cancer Early Detection; Breast Cancer Genetics; Breast Cancer Patient; Breast Cancer Risk Assessment Tool; Breast Cancer Risk Factor; CLIA certified; Cameroon; Clinic; Collaborations; Color; Consent; Country; Cross-Sectional Studies; DNA Sequence Alteration; Data; Disease; Endometrial Carcinoma; Enrollment; Family; Female; First Degree Relative; General Hospitals; Genes; Genetic; Genetic Counseling; Genetic Screening; Genomic medicine; Genomics; Genotype; Goals; Grant; High Risk Woman; Hospitals; Incidence; Income; Individual; Inherited; Inpatients; Intention; Interview; Laboratories; Malignant Neoplasms; Malignant neoplasm of ovary; Malignant neoplasm of prostate; Maps; Mission; Modeling; Mutation; Nigeria; Nigerian; Participant; Patients; Population Study; Prevalence; Prevention; Questionnaires; Research; Research Personnel; Research Training; Resources; Risk; Risk Assessment; Sahara; Saliva; Services; Site; Standardization; Structure; Surveys; Susceptibility Gene; Test Result; Testing; Training; Translating; Uganda; Universities; University Hospitals; Variant; Woman; Work; advanced disease; base; cancer genetics; cancer genomics; cancer risk; clinical practice; college; cost effective; genetic panel test; genetic testing; genetic variant; genome sequencing; global health; high risk; interest; lifetime risk; malignant breast neoplasm; mortality; next generation sequencing; non-genetic; polygenic risk score; response; screening; screening program; tool; translational cancer research; whole genome; willingness; willingness to pay

PROJECT ABSTRACT 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.

项目摘要 本申请是为了响应被确定为 NOT- 的特殊利益通知 (NOSI) 而提交的 CA-20-032。乳腺癌是非洲最常见的女性恶性肿瘤，是一个全球健康问题。它是 过去二十年来，非洲的发病率和死亡率有所上升。迟到的先进演示 疾病和生存率低是撒哈拉以南非洲 (SSA) 女性患乳腺癌的标志，但 没有筛查计划。遗传和非遗传风险因素可用于识别风险增加的女性 因此，基于风险的筛查策略在资源有限的环境中可以具有成本效益。使用尼日利亚的数据 乳腺癌研究（NBCS），我们开发了适合非洲人的乳腺癌风险评估模型 女性具有出色的区分准确性，但其实用性尚未在实践中进行评估。此外， 癌症遗传学的进步可以识别患有遗传性乳腺癌高风险或极高风险的女性。最近， 我们发现尼日利亚、喀麦隆和乌干达连续患乳腺癌的女性中约有 15% 携带乳腺癌 易感基因突变，如 BRCA1/2。然而，SSA 的女性面临遗传性乳房和 卵巢癌缺乏挽救生命的遗传咨询和可行的基因组测试。我们已经推出了 一项初步的遗传咨询和测试研究，招募了 362 名未经选择的患有乳腺癌、卵巢癌、 子宫内膜癌和前列腺癌以及 10 名通过我们的合作者转介的一级亲属 (FDR) 伊巴丹大学。拟议的补充项目将有助于加强和加强正在进行的 在尼日利亚进行癌症基因组学研究培训，并测试将服务扩展到喀麦隆的可行性 以及尼日利亚的其他医院。我们建议再招募 200 名乳腺癌患者及其第一学位 亲属来解决三个具体目标。首先，我们旨在评估 NBCS 风险的可行性和效用 评估工具，估算西方乳腺癌患者女性亲属的乳腺癌风险 非洲使用风险工具。其次，我们会确定乳腺癌患者及其亲属的意愿 接受并支付遗传性癌症的遗传咨询和检测费用。三、接下来我们将进行 世代测序基因测试并评估种族特定的多基因风险评分。我们将与 喀麦隆的研究人员将我们的遗传咨询工具和 NBCS 风险评估工具翻译成法语。 我们的长期目标是从西非开始，通过建立泛非肿瘤遗传学网络 对高危女性进行家庭基因筛查，使这些女性有机会进行预防 或在乳腺癌最有可能治愈的时候及早发现它。补充补助金将意义重大 强化这一使命。