ArticleGenetics and molecular biology2014
Prevalence and impact of founder mutations in hereditary breast cancer in Latin America.
Article in Genetics and molecular biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 42 citations in OpenAlex.
- Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.Breast cancer research and treatment · 2024Article
- Germline mutations in BRCA1 and BRCA2 among Brazilian women with ovarian cancer treated in the Public Health System.BMC cancer · 2024Article
- BRCA1 and BRCA2 screening of nine Chilean founder mutations through allelic-discrimination and real-time PCR in breast/ovarian cancer patients.Molecular biology reports · 2022Article
- Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.JCO global oncology · 2022Article
- Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.Breast cancer research and treatment · 2021Article
- Article
- Frequency of mutations in BRCA genes and other candidate genes in high-risk probands or probands with breast or ovarian cancer in the Czech Republic.Molecular biology reports · 2020Article
- Breast cancer in six families from Tolima and Huila: BRCA1 3450del4 mutationBiomedica : revista del Instituto Nacional de Salud · 2020Article
- Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening.Frontiers in oncology · 2020Article
- Review
- BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific.Colombia medica (Cali, Colombia) · 2019Article
- A Multi-Center Study ofCancers · 2019Article
- From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America.International journal of cancer · 2019Review
- Review
- Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia.Hereditary cancer in clinical practice · 2019Article
- Mutations in context: implications of BRCA testing in diverse populations.Familial cancer · 2018Review
- Article
- Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.Hereditary cancer in clinical practice · 2017Review
- Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review.The oncologist · 2016Review
- Genetic Cancer Risk Assessment for Breast Cancer in Latin America.Revista de investigacion clinica; organo del Hospital de Enfermedades de la NutricionReview
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Approximately 10% of all cancers are considered hereditary and are primarily caused by germline, high penetrance mutations in cancer predisposition genes. Although most cancer predisposition genes are considered molecularly heterogeneous, displaying hundreds of different disease-causing sequence alterations, founder mutations have been identified in certain populations. In some Latin American countries, founder mutations associated with increased risk of breast and other cancers have been described. This is particularly interesting considering that in most of these countries, populations are highly admixed with genetic contributions from native populations and from the in-flux of several distinct populations of immigrants. In this article, we present a review of the scientific literature on the subject and describe current data available on founder mutations described in the most common breast cancer predisposition genes: BRCA1, BRCA2 and TP53.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.