ArticlePloS one2012
Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- Pathogenic variants inJournal of medicine and life · 2025Pooled it
- The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.Breast cancer research and treatment · 2015Pooled it
- Phytoconstituents in photoaging: therapeutic potential in prevention and regeneration.Photochemical & photobiological sciences : Official journal of the European Photochemistry Association and the European Society for Photobiology · 2025Review
- Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population.Frontiers in oncology · 2023Article
- Clinical Benefits of Olaparib in Mexican Ovarian Cancer Patients With Founder MutationFrontiers in genetics · 2022Article
- Genetic Variants in the 3'UTR ofDiagnostics (Basel, Switzerland) · 2020Article
- Review
- A Multi-Center Study ofCancers · 2019Article
- Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.BMC cancer · 2019Article
- Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.Human genomics · 2019Article
- Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia.Hereditary cancer in clinical practice · 2019Article
- Precision medicine for locally advanced breast cancer: frontiers and challenges in Latin America.Ecancermedicalscience · 2019Review
- A RecurrentCancers · 2018Article
- Description of Genetic Variants inGenes · 2018Article
- Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.Biological research · 2017Review
- Genomic Disparities in Breast Cancer Among Latinas.Cancer control : journal of the Moffitt Cancer Center · 2016Article
- Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review.The oncologist · 2016Review
- Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru.Clinical genetics · 2015Article
- The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer.Breast cancer research and treatment · 2015Article
- Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2015Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary breast cancer comprises 10% of all breast cancers. The most prevalent genes causing this pathology are BRCA1 and BRCA2 (breast cancer early onset 1 and 2), which also predispose to other cancers. Despite the outstanding relevance of genetic screening of BRCA deleterious variants in patients with a history of familial cancer, this practice is not common in Latin American public institutions. In this work we assessed mutations in the entire exonic and splice-site regions of BRCA in 39 patients with breast and ovarian cancer and with familial history of breast cancer or with clinical features suggestive for BRCA mutations by massive parallel pyrosequencing. First we evaluated the method with controls and found 41-485 reads per sequence in BRCA pathogenic mutations. Negative controls did not show deleterious variants, confirming the suitability of the approach. In patients diagnosed with cancer we found 4 novel deleterious mutations (c.2805_2808delAGAT and c.3124_3133delAGCAATATTA in BRCA1; c.2639_2640delTG and c.5114_5117delTAAA in BRCA2). The prevalence of BRCA mutations in these patients was 10.2%. Moreover, we discovered 16 variants with unknown clinical significance (11 in exons and 5 in introns); 4 were predicted as possibly pathogenic by in silico analyses, and 3 have not been described previously. This study illustrates how massive pyrosequencing technology can be applied to screen for BRCA mutations in the whole exonic and splice regions in patients with suspected BRCA-related cancers. This is the first effort to analyse the mutational status of BRCA genes on a Mexican-mestizo population by means of pyrosequencing.
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