ArticleSpringerPlus2012
BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.
Article in SpringerPlus, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 2 of them syntheses that pooled it.
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Who cites it
36 citing papers in PubMed, 2 syntheses or guidelines pooled it, 58 citations in OpenAlex.
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
- The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.Breast cancer research and treatment · 2015Pooled it
- Contribution of large genomic rearrangements in BRCA1/2 genes and CHEK2 1100delC allele variant to the development of breast/ovarian cancer in Argentinian population.Breast cancer research and treatment · 2025Article
- Article
- The Molecular Detection of Germline Mutations in theCurrent issues in molecular biology · 2024Article
- Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, ArgentinaRevista de la Facultad de Ciencias Medicas (Cordoba, Argentina) · 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
- Study of the Genetic Variants inCancers · 2021Article
- Article
- Article
- Sequencing technology status ofNPJ genomic medicine · 2020Article
- Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.Scientific reports · 2019Article
- Review
- BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific.Colombia medica (Cali, Colombia) · 2019Article
- Non-Journal of global oncology · 2019Article
- Review
- Precision medicine for locally advanced breast cancer: frontiers and challenges in Latin America.Ecancermedicalscience · 2019Review
- Overview of the genetic basis toward early detection of breast cancer.Breast cancer (Dove Medical Press) · 2019Review
- Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia.Hereditary cancer in clinical practice · 2019Article
- A RecurrentCancers · 2018Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe spectrum of BRCA1/2 genetic variation in breast-ovarian cancer patients has been scarcely investigated outside Europe and North America, with few reports for South America, where Amerindian founder effects and recent multiracial immigration are predicted to result in high genetic diversity. We describe here the results of BRCA1/BRCA2 germline analysis in an Argentinean series of breast/ovarian cancer patients selected for young age at diagnosis or breast/ovarian cancer family history.
methodsThe study series (134 patients) included 37 cases diagnosed within 40 years of age and no family history (any ethnicity, fully-sequenced), and 97 cases with at least 2 affected relatives (any age), of which 57 were non-Ashkenazi (fully-sequenced) and 40 Ashkenazi (tested only for the founder mutations c.66_67delAG and c.5263insC in BRCA1 and c.5946delT in BRCA2). DISCUSSION: We found 24 deleterious mutations (BRCA1:16; BRCA2: 8) in 38/134 (28.3%) patients, of which 6/37 (16.2%) within the young age group, 15/57 (26.3%) within the non-Ahkenazi positive for family history; and 17/40 (42.5%) within the Ashkenazi. Seven pathogenetic mutations were novel, five in BRCA1: c.1502_1505delAATT, c.2626_2627delAA c.2686delA, c.2728 C > T, c.3758_3759delCT, two in BRCA2: c.7105insA, c.793 + 1delG. We also detected 72 variants of which 54 previously reported and 17 novel, 33 detected in an individual patient. Four missense variants of unknown clinical significance, identified in 5 patients, are predicted to affect protein function. While global and European variants contributed near 45% of the detected BRCA1/2 variation, the significant fraction of new variants (25/96, 26%) suggests the presence of a South American genetic component. This study, the first conducted in Argentinean patients, highlights a significant impact of novel BRCA1/2 mutations and genetic variants, which may be regarded as putatively South American, and confirms the important role of founder BRCA1 and BRCA2 mutations in Argentinean Ashkenazi Jews.
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