ArticleCancer genetics2012
Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico.
Article in Cancer genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Breast Cancer Research in the Caribbean: Analysis of Reports From 1975 to 2017.Journal of global oncology · 2018Pooled it
- The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.Breast cancer research and treatment · 2015Pooled it
- Article
- Article
- Identification of a RAD52 Inhibitor Inducing Synthetic Lethality in BRCA2-Deficient Cancer Cells.Frontiers in pharmacology · 2021Article
- SNPs in the interleukin-12 signaling pathway are associated with breast cancer risk in Puerto Rican women.Oncotarget · 2020Article
- Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.Scientific reports · 2019Article
- Review
- A RecurrentCancers · 2018Article
- Identification of a novel breast cancer-causing mutation in theOncology letters · 2018Article
- Article
- Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.Scientific reports · 2017Article
- Clinical Cancer Genetics Disparities among Latinos.Journal of genetic counseling · 2017Review
- State of Art of Cancer Pharmacogenomics in Latin American Populations.International journal of molecular sciences · 2017Review
- Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.Hereditary cancer in clinical practice · 2017Review
- When a Common Language Is Not Enough: Transcreating Cancer 101 for Communities in Puerto Rico.Journal of cancer education : the official journal of the American Association for Cancer Education · 2016Article
- Genomic Disparities in Breast Cancer Among Latinas.Cancer control : journal of the Moffitt Cancer Center · 2016Article
- The importance of BRCA1 and BRCA2 genes mutations in breast cancer development.Medical journal of the Islamic Republic of Iran · 2016Review
- Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2.GigaScience · 2015Article
- Improving cancer clinical research and trials with Hispanic populations: training and outreach efforts between Moffitt Cancer Center and the Ponce School of Medicine.Reviews on recent clinical trials · 2014Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
Mutations in the breast cancer 1, early onset (BRCA1) and breast cancer 2 (BRCA2) genes are responsible for the majority of hereditary breast cancers. Knowledge of the incidence and prevalence of BRCA mutations in a specific population or ethnic group is necessary to provide accurate genetic counseling for breast cancer patients and their families; however, these data have not been gathered in the population of Puerto Rico. We conducted a retrospective study of female breast cancer patients undergoing genetic testing for BRCA mutations in the highest-volume breast surgery practices in San Juan, Puerto Rico. Data collection includes three-generation family cancer history and results from complete BRCA sequencing. A total of six different deleterious mutations were observed, including one mutation in BRCA1 and five mutations in BRCA2. Three recurrent mutations (BRCA1 del exon1-2, BRCA2 4150G>T, and BRCA2 6027del4) account for over 70% of all the BRCA mutations observed in this study population. This study examines for the first time the characteristics of hereditary breast cancer in Puerto Rico and assesses the accuracy of existing genetic risk assessment tools in that population. This data is expected to contribute to providing accurate and efficient tools for the clinical management of hereditary breast cancer in Puerto Rico.
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Registered trials
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.