ArticleFamilial cancer2008
Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba.
Article in Familial cancer, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 3 of them syntheses that pooled it.
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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
24 citing papers in PubMed, 3 syntheses or guidelines pooled it, 38 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
- 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
- Breast Cancer in the Caribbean.Cureus · 2021Review
- Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.Breast cancer research and treatment · 2021Article
- BRCA2 c.8827C>T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancer.Molecular genetics & genomic medicine · 2020Article
- Review
- A Multi-Center Study ofCancers · 2019Article
- Review
- Precision medicine for locally advanced breast cancer: frontiers and challenges in Latin America.Ecancermedicalscience · 2019Review
- Mutations in context: implications of BRCA testing in diverse populations.Familial cancer · 2018Review
- 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
- 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
- Breast cancer survival of Hispanic women in the USA is influenced by country of origin.Asia-Pacific journal of clinical oncology · 2014Article
- A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.BioMed research international · 2013Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The contribution of BRCA1 and BRCA2 to breast cancer incidence in Cuba has not yet been explored. In order to estimate the proportion of breast cancers due to BRCA1 and BRCA2 mutations in Cuba, and to identify possible Cuban founder mutations, we conducted a study of unselected breast cancer patients from Havana, Cuba. We enrolled 336 women with breast cancer from a large public hospital in the city. A family history of cancer was obtained from each patient and a blood sample was processed for DNA analysis. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques, but all mutations were confirmed by direct sequencing. We were able to successfully complete testing on samples from 307 women. Among these, eight mutations were identified (seven in BRCA2 and one in BRCA1) representing 2.6% of the total, including 10% of familial cases and 10% of cases under age forty. One BRCA2 mutation (c.3394C > T) was found in two women, but no clear example of a founder mutation was identified. In summary, BRCA1 and BRCA2 mutations are not uncommon in Cuban women with breast cancer, but the absence of founder mutations precludes the development of a rapid and inexpensive clinical screening test.
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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.