ArticleScientific reports2017
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
- Genomic landscape of hereditary cancer syndromes in the largest cohort in Colombia: a retrospective study.Lancet regional health. Americas · 2026Article
- Aligning awareness, systems and policy to increase equitable access to genomically driven cancer care.BMJ oncology · 2026Review
- Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.Diseases (Basel, Switzerland) · 2025Article
- Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.European journal of human genetics : EJHG · 2025Article
- Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam.PloS one · 2025Article
- Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.Human genomics · 2024Article
- Native American ancestry and breast cancer risk in Colombian and Mexican women: ruling out potential confounding through ancestry-informative markers.Breast cancer research : BCR · 2023Article
- Detection of clinically important BRCA gene mutations in ovarian cancer patients using next generation sequencing analysis.American journal of cancer research · 2023Article
- Article
- 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
- A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.Genome medicine · 2022Article
- Prevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer.The oncologist · 2022Article
- Germline Mutation Analysis in Sporadic Breast Cancer Cases With Clinical Correlations.Frontiers in genetics · 2022Article
- Associations of one-carbon metabolism-related gene polymorphisms with breast cancer risk are modulated by diet, being higher when adherence to the Mediterranean dietary pattern is low.Breast cancer research and treatment · 2021Article
- Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.Oncotarget · 2021Article
- Comprehensive study for BRCA1 and BRCA2 entire coding regions in breast cancer.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2021Article
- Economic Modelling of Screen-and-Treat Strategies for Brazilian Women at Risk of Hereditary Breast and Ovarian Cancer.Applied health economics and health policy · 2021Article
- Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.Breast cancer research : BCR · 2020Article
- Association ofBreast cancer : basic and clinical research · 2020Article
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8 authors.
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Abstract
Pathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women of European ancestry. Characterization of BRCA1/2 mutations in other ethnic groups is also medically important. We comprehensively screened 68 Colombian breast/ovarian cancer families for small-range mutations, 221 families for large-genomic rearrangements, and 1,022 unselected breast cancer cases for Colombian founder mutations in BRCA1/2. The risk of cancer among relatives of mutation carriers and the mutation penetrance were estimated by survival analysis. Identified BRCA2 mutations included 6310delGA and the recurrent 1991del4 mutations. A novel large BRCA2 deletion was found in 0.9% of the screened families. Among unselected breast cancer cases, 3.3% tested positive for BRCA1/3450del4, 2.2% for BRCA1/A1708E, 1.1% for BRCA2/3034del4, and 0.4% for BRCA2/1991del4. Female relatives of carriers of BRCA1/2 founder mutations showed a 5.90 times higher risk of breast cancer, when the woman herself carried a BRCA1 mutation compared to a non-carrier (95% CI 2.01-17.3). The estimated cumulative risk of breast cancer by age 70 years for BRCA1 mutations carriers was 14% (95% CI 5-38) compared to 3% for the general Colombian population (relative risk of breast cancer 4.05). Together with known founder mutations, reported novel variants may ease a cost-effective BRCA1/2 screening in women with Colombian ancestry.
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