1. Breast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations: A Resource for Genetic Counseling of West African Women
- Author
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Thomas U. Ahearn, Parichoy Pal Choudhury, Andriy Derkach, Beatrice Addai Wiafe, Baffour Awuah, Joel Yarney, Lawrence Edusei, Nicholas Titiloye, Verna Vanderpuye, Francis Aitpillah, Florence Dedey, Joseph Oppong, Ernest Osei-Bonsu, Máire Duggan, Louise A. Brinton, Craig Luccarini, Caroline Baynes, Alison M. Dunning, Brittny C. Davis Lynn, Stephen Chanock, Belynda Hicks, Meredith Yeager, Nilanjan Chatterjee, Richard Biritwum, Joe Nat Clegg-Lamptey, Kofi Nyarko, Seth Wiafe, Daniel Ansong, Douglas F. Easton, Jonine Figueroa, Montserrat Garcia-Closas, and Ghana Breast Health Study (GBHS) more...
- Subjects
education.field_of_study ,business.industry ,Genetic counseling ,Population ,Absolute risk reduction ,Cancer ,medicine.disease ,Institutional review board ,Breast cancer ,Relative risk ,Medicine ,skin and connective tissue diseases ,business ,education ,CHEK2 ,Demography - Abstract
Background: Breast cancer risk estimates for women carrying germline mutations in breast cancer susceptibility genes are mainly based on studies of European ancestry women, with limited data for women in West African. Methods: We investigated associations between pathogenic variants in 34 putative susceptibility genes with breast cancer risk in 871 cases (307 estrogen receptor (ER)-positive, 321 ER-negative, and 243 ER-unknown) and 1,563 controls in a population-based study in Ghana, and estimated lifetime risk for mutation carriers in the general population. We compared results to those for European, Asian and African-American women. Findings: The frequency of pathogenic mutations in nine breast cancer genes (BRCA1, BRCA2, PALB2, TP53, ATM, BARD1, CHEK2, RAD51C, RAD52D) was 8·38% in cases and 1·22% in controls from GBHS. Mutations in BRCA1, BRCA2, PALB2, and TP53 were significantly associated with breast cancer risk at P more...
- Published
- 2021
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