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. 2024 Jan 23;15(2):145.
doi: 10.3390/genes15020145.

Genomic Variants and Worldwide Epidemiology of Breast Cancer: A Genome-Wide Association Studies Correlation Analysis

Giovanna Gilioli da Costa Nunes  1 , Lilian Marques de Freitas  1 , Natasha Monte  1 , Laura Patrícia Albarello Gellen  1 , Aline Pasquini Santos  1 , Francisco Cezar Aquino de Moraes  1 , Ana Caroline Alves da Costa  1 , Milena Cardoso de Lima  1 , Marianne Rodrigues Fernandes  1 , Sidney Emanuel Batista Dos Santos  1   2 , Ney Pereira Carneiro Dos Santos  1
Affiliations

Genomic Variants and Worldwide Epidemiology of Breast Cancer: A Genome-Wide Association Studies Correlation Analysis

Giovanna Gilioli da Costa Nunes et al. Genes (Basel). .

Abstract

Breast cancer (BCa) is the most common cancer and leading cause of cancer death among women globally. This can be explained by the genetic factor of this disease. This article aims to correlate the epidemiological data, worldwide incidence, and mortality of BCa with the Single-Nucleotide Polymorphisms (SNPs) associated with the susceptibility and severity in different populations. Two hundred and forty genetic variants associated with BCa susceptibility/severity were selected from the literature through Genome-Wide Association Studies (GWAS). The allele frequencies were obtained from the 1000 Genomes Project, and the epidemiological data were obtained from the World Health Organization (WHO). The BCa incidence, mortality rates, and allele frequencies of the variants were evaluated using Pearson's correlation. Our study demonstrated that 11 SNPs (rs3817578, rs4843437, rs3754934, rs61764370, rs780092, rs2290203, rs10411161, rs6001930, rs16886165, rs8051542 and rs4973768) were significantly correlated with the epidemiological data in different ethnic groups. Seven polymorphisms (rs3817578, rs3754934, rs780092, rs2290203, rs10411161, rs6001930 and rs16886165) were inversely correlated with the incidence rate and four polymorphisms (rs4843437, rs61764370, rs8051542 and rs4973768) were directly correlated with the incidence rate. African and South-East Asian populations have a lower risk of developing BCa when evaluated in terms of genetic factors since they possess variants characterized as protective, as their higher incidence is associated with a lower frequency of BCa cases. The genetic variants investigated here are likely to predispose individuals to BCa. The genetic study described here is promising for implementing personalized strategies to screen for breast cancer in diverse populations.

Keywords: breast cancer; epidemiology; genetic risk variants; population; severity; susceptibility.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Methodology for selection of the genetic variants.
Figure 2
Figure 2
Incidence and mortality rates per 100,000 habitants from the World Health Organization International Agency for Research on Cancer in different populations.
Figure 3
Figure 3
SNPs associated with the BCa incidence in different populations.
See this image and copyright information in PMC

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