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Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Uganda and Cameroon Women
- Source :
- Cancer Epidemiol Biomarkers Prev
- Publication Year :
- 2019
-
Abstract
- PURPOSE: Sub-Saharan Africa (SSA) has a high proportion of premenopausal hormone receptor negative breast cancer. Previous studies reported a strikingly high prevalence of germline mutations in BRCA1 and BRCA2 among Nigerian breast cancer patients. It is unknown if this exists in other SSA countries. METHODS: Breast cancer cases, unselected for age at diagnosis and family history, were recruited from tertiary hospitals in Kampala, Uganda and Yaoundé, Cameroon. Controls were women without breast cancer recruited from the same hospitals and age-matched to cases. A multi-gene sequencing panel was used to test for germline mutations. RESULTS: There were 196 cases and 185 controls with mean age of 46.2 and 46.6 years for cases and controls, respectively. Among cases, 15.8% carried a pathogenic or likely pathogenic mutation in a breast cancer susceptibility gene: 5.6% in BRCA1, 5.6% in BRCA2, 1.5% in ATM, 1% in PALB2, 0.5% in BARD1, 0.5% in CDH1, and 0.5% in TP53. Among controls, 1.6% carried a mutation in one of these genes. Cases were 11-fold more likely to carry a mutation compared to controls (odds ratio=11.34, 95% confidence interval: 3.44–59.06; P
- Subjects :
- Adult
BRCA2 Protein
Molecular Epidemiology
BRCA1 Protein
DNA Mutational Analysis
High-Throughput Nucleotide Sequencing
Breast Neoplasms
Middle Aged
Article
Case-Control Studies
Biomarkers, Tumor
Prevalence
Humans
Female
Genetic Predisposition to Disease
Uganda
Cameroon
skin and connective tissue diseases
Germ-Line Mutation
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Cancer Epidemiol Biomarkers Prev
- Accession number :
- edsair.pmid..........5303ecd7e9f359e930b491ed8b7a792f