Genomic Diversity in Sporadic Breast Cancer in a Latin American Population

Brignoni, Lucía; Cappetta, Mónica; Colistro, Valentina; Sans, Mónica; Artagaveytia, Nora; Bonilla, Carolina; Bertoni, Bernardo

doi:10.3390/genes11111272

Cited by 5 publications

(6 citation statements)

References 49 publications

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“…Inclusion criteria: (1) all included studies are observational studies. (2) The main exposure of study was smoking including active and passive smoking, and the outcome was BC risk. (3) All studies included available data which reported the relationship between smoking and BC.…”

Section: Selection Criteriamentioning

confidence: 99%

“…Exclusion criteria: (1) the study was conducted on BC population and used mortality or recovery rate as the outcome. (2) The study was published in duplicate. (3) The study was not published in English.…”

Section: Selection Criteriamentioning

confidence: 99%

“…Breast cancer (BC) is the most common cancer in women worldwide ( 1 ). As a heterogeneous disease, its occurrence is influenced by both endogenous factors (such as heredity ( 2 , 3 ), gene mutation ( 4 , 5 )) and exogenous factors (such as reproduction ( 6 , 7 ), environment ( 8 )). It is estimated that only 5-10% of BC cases are induced by genetic factors, while the remaining 90-95% are highly related to environmental factors or specific lifestyle ( 9 , 10 ).…”

Section: Introductionmentioning

confidence: 99%

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The relationship between tobacco and breast cancer incidence: A systematic review and meta-analysis of observational studies

et al. 2022

Front. Oncol.

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BackgroundThe effect of tobacco on breast cancer (BC) is controversial. The purpose of this study was to investigate the relationship between tobacco and BC.MethodsA search was conducted in PubMed, EBSCO, Web of Science and Cochrane Library databases before February 2022. The adjusted odd ratio (OR) and corresponding 95% confidence interval (CI) were used to examine the relationship between active or passive smoking and BC risk.ResultsA total of 77 articles composed of 2,326,987 participants were included for this meta-analysis. Active (OR=1.15, 95% CI=1.11-1.20, p<0.001) and passive (OR=1.17, 95% CI=1.09-1.24, p<0.001) smoking increased the risk of BC in the female population, especially premenopausal BC (active smoking: OR=1.24, p<0.001; passive smoking: OR=1.29, p<0.001), but had no effect on postmenopausal BC (active smoking: OR=1.03, p=0.314; passive smoking: OR=1.13, p=0.218). Active smoking increased the risk of estrogen receptor-positive (ER+) BC risk (OR=1.13, p<0.001), but had no effect on estrogen receptor-negative (ER-) BC (OR=1.08, p=0.155). The risk of BC was positively associated with the duration and intensity of smoking, negatively associated with the duration of smoking cessation. Active smoking increased the risk of BC in the multiparous population (OR=1.13, p<0.001), but had no effect on the nulliparous population (OR=1.05, p=0.432), and smoking before the first birth (OR=1.22, 95% CI=1.17-1.27) had a greater impact on the risk of BC than smoking after the first birth (OR=1.08, 95% CI=1.04-1.12).ConclusionSmoking (active and passive) increased the risk of BC in women. The effect of smoking on BC was influenced by smoking-related factors (duration, intensity, years of quitting), population-related factors (fertility status), and BC subtypes.Systematic Review Registrationidentifier CRD42022322699.

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Section: Selection Criteriamentioning

confidence: 99%

Section: Selection Criteriamentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The relationship between tobacco and breast cancer incidence: A systematic review and meta-analysis of observational studies

et al. 2022

Front. Oncol.

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“…Thus, the present study suggested that this VUS is probably benign. Supporting this, recent meta-analyzes described this VUS to be a low-risk variant for breast cancer, demonstrating its possible protective behavior ( 51 , 52 ).…”

Section: Discussionmentioning

confidence: 64%

BRCA1 VUS: A functional analysis to differentiate pathogenic from benign variants identified in clinical diagnostic panels for breast cancer

et al. 2023

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Genetic testing for susceptibility genes through next-generation sequencing (NGS) has become a widely used technique. Using this, a number of genetic variants have been identified, several of which are variants of unknown significance (VUS). These VUS can either be pathogenic or benign. However, since their biological effect remains unclear, functional assays are required to classify their functional nature. As the use of NGS becomes more mainstream as a diagnostic tool in clinical practice, the number of VUS is expected to increase. This necessitates their biological and functional classification. In the present study, a VUS was identified in the BRCA1 gene (NM_007294.3:c.1067A>G) in two women at risk for breast cancer, for which no functional data has been reported. Therefore, peripheral lymphocytes were isolated from the two women and also from two women without the VUS. DNA from all samples were sequenced by NGS of a breast cancer clinical panel. Since the BRCA1 gene is involved in DNA repair and apoptosis, the functional assays chromosomal aberrations, cytokinesis-blocked micronucleus, comet, γH2AX, caspase and TUNEL assays were then conducted on these lymphocytes after a genotoxic challenge by ionizing radiation or doxorubicin to assess the functional role of this VUS. The micronucleus and TUNEL assays revealed a lower degree of DNA induced-damage in the VUS group compared with those without the VUS. The other assays showed no significant differences between the groups. These results suggested that this BRCA1 VUS is likely benign, since the VUS carriers were apparently protected from deleterious chromosomal rearrangements, subsequent genomic instability and activation of apoptosis.

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“…Thus, exploring genetic diversity in underrepresented populations is crucial for a comprehensive understanding of health and disease in diverse human populations. To this end, our group has made efforts in integrated genomics and epigenetics studies on complex diseases such as cancer and preterm birth, aiming to identify biomarkers in Latin American populations (Brignoni et al 2020;Cappetta et al 2015Cappetta et al , 2021Pereyra et al 2016Pereyra et al , 2019.…”

Section: Introductionmentioning

confidence: 99%

Targeted Long-Read Bisulfite Sequencing for Promoter Methylation Analysis in Severe Preterm Birth

Pereyra,

Sardina,

Neumann

et al. 2024

Preprint

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DNA methylation plays a critical role in the dynamics of gene expression regulation and the development of various disorders. Whole-genome bisulfite sequencing can provide single base resolution of CpG methylation levels and is the "gold standard" for DNA methylation quantification, but it also has a high cost. In contrast, targeted sequencing is optimal when focusing on specific candidate regions, while providing sufficient sequencing depth. Here, we present a targeted bisulfite sequencing approach to study the methylation status of regions of interest. We amplify selected regions from bisulfite-treated DNA and sequence them using Nanopore sequencing. In this work, we applied this workflow to candidate gene promoters for severe premature labor in a Latin American population. We successfully amplified fragments over 1 Kb in length using long PCR conditions for 12 genes that were barcoded per sample and pooled to be sequenced on MinION flow cells. This approach achieved high sequencing depths, ensuring reliable DNAm estimation. We found significant hypomethylation of the MIR155HG gene promoter in severe preterm birth samples, which is concordant with reported gene expression changes. We demonstrate that combining bisulfite DNA treatment with pooled long-read sequencing is a cost- and time-effective method to evaluate DNAm in several targeted regions and several samples in parallel. This study provides proof-of-concept for larger studies, demonstrating the applicability and high scalability of our assay to any locus of interest. Our experience suggests that this approach can be easily transferred to other diagnostic questions.

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Genomic Diversity in Sporadic Breast Cancer in a Latin American Population

Cited by 5 publications

References 49 publications

The relationship between tobacco and breast cancer incidence: A systematic review and meta-analysis of observational studies

The relationship between tobacco and breast cancer incidence: A systematic review and meta-analysis of observational studies

BRCA1 VUS: A functional analysis to differentiate pathogenic from benign variants identified in clinical diagnostic panels for breast cancer

Targeted Long-Read Bisulfite Sequencing for Promoter Methylation Analysis in Severe Preterm Birth

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