ArticleBMC cancer2018
A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci.
Article in BMC cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 17 citations in OpenAlex.
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- Association of Gene Polymorphisms with Breast Cancer Risk in the Kazakh Population.Asian Pacific journal of cancer prevention : APJCP · 2023Article
- The first exome wide association study in Tunisia: identification of candidate loci and pathways with biological relevance for type 2 diabetes.Frontiers in endocrinology · 2023Article
- Sequencing of Chromosomal Locus 6q25.1 Revealed Two Significant SNPs rs2046210 and rs2046211 Associated with Breast Cancer: A Case-Control Study in Egyptian Women.Asian Pacific journal of cancer prevention : APJCP · 2022Article
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- Human OMICs and Computational Biology Research in Africa: Current Challenges and Prospects.Omics : a journal of integrative biology · 2021Article
- Identification of Eleven NovelFrontiers in oncology · 2021Article
- Long Non-Coding RNA Neighbor of BRCA1 Gene 2: A Crucial Regulator in Cancer Biology.Frontiers in oncology · 2021Review
- Polyunsaturated fatty acid biosynthesis pathway and genetics. implications for interindividual variability in prothrombotic, inflammatory conditions such as COVID-19Prostaglandins, leukotrienes, and essential fatty acids · 2020Review
- A Review of Cancer Genetics and Genomics Studies in Africa.Frontiers in oncology · 2020Review
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 2 countries.
Funding
Abstract
backgroundBreast cancer is the most common cancer in women worldwide. Around 50% of breast cancer familial risk has been so far explained by known susceptibility alleles with variable levels of risk and prevalence. The vast majority of these breast cancer associated variations reported to date are from populations of European ancestry. In spite of its heterogeneity and genetic wealth, North-African populations have not been studied by the HapMap and the 1000Genomes projects. Thus, very little is known about the genetic architecture of these populations.
methodsThis study aimed to investigate a subset of common breast cancer loci in the general Tunisian population and to compare their genetic composition to those of other ethnic groups. We undertook a genome-wide haplotype study by genotyping 135 Tunisian subjects using the Affymetrix 6.0-Array. We compared Tunisian allele frequencies and linkage disequilibrium patterns to those of HapMap populations and we performed a comprehensive assessment of the functional effects of several selected variants.
resultsHaplotype analyses showed that at risk haplotypes on 2p24, 4q21, 6q25, 9q31, 10q26, 11p15, 11q13 and 14q32 loci are considerably frequent in the Tunisian population (> 20%). Allele frequency comparison showed that the frequency of rs13329835 is significantly different between Tunisian and all other HapMap populations. LD-blocks and Principle Component Analysis revealed that the genetic characteristics of breast cancer variants in the Tunisian, and so probably the North-African populations, are more similar to those of Europeans than Africans. Using eQTl analysis, we characterized rs9911630 as the most strongly expression-associated SNP that seems to affect the expression levels of BRCA1 and two long non coding RNAs (NBR2 and LINC008854). Additional in-silico analysis also suggested a potential functional significance of this variant.
conclusionsWe illustrated the utility of combining haplotype analysis in diverse ethnic groups with functional analysis to explore breast cancer genetic architecture in Tunisia. Results presented in this study provide the first report on a large number of common breast cancer genetic polymorphisms in the Tunisian population which may establish a baseline database to guide future association studies in North Africa.
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