ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2013
Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to 2 registered trials, which are not on this map. Cited by 96 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.
Testing an Intelligent Tutoring System Intervention to Enhance Genetic Risk Assessment in Underserved Blacks and Latinas at Risk of Hereditary Breast Cancer
Testing a Culturally Adapted Telephone Genetic Counseling Intervention to Enhance Genetic Risk Assessment in Underserved Latinas at Risk of Hereditary Breast and Ovarian Cancer
Who cites it
96 citing papers in PubMed, 3 syntheses or guidelines pooled it, 148 citations in OpenAlex.
- Pathogenic variants inJournal of medicine and life · 2025Pooled it
- Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.European journal of medical research · 2024Pooled it
- The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.Breast cancer research and treatment · 2015Pooled it
- A pilot randomized trial of an educational intervention to increase genetic counseling and genetic testing among Latina breast cancer survivors.Journal of genetic counseling · 2021Trial
- The germline mutational landscape of BRCA1 and BRCA2 in Brazil.Scientific reports · 2018Trial
- Contralateral Prophylactic Mastectomy in Women with Unilateral Breast Cancer by Age, Race, and Tumor Subtype.Annals of surgical oncology · 2026Article
- Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women.Nature communications · 2025Article
- Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.Discover oncology · 2025Article
- Breast Cancer Risk Perceptions Among Underserved, Hispanic Women: Implications for Risk-Based Approaches to Screening.Journal of racial and ethnic health disparities · 2025Article
- Clinical characteristics of male patients with breast cancer in the Latino population.Breast cancer research and treatment · 2025Article
- Uptake of Risk-Reducing Surgeries in an International Real-World Cohort of Hispanic Women.JCO global oncology · 2024Article
- Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies.Breast cancer research and treatment · 2024Article
- Detection of genomic variants in BRCA1 and BRCA2 across gastric cancer patients using next generation sequencing.American journal of translational research · 2024Article
- A common variant SNP rs1937810 in the MPP7 gene contributes to the susceptibility of breast cancer in the Chinese Han population.Molecular genetics & genomic medicine · 2023Article
- Cultural adaptations to a telephone genetic counseling protocol and booklet for Latina breast cancer survivors at risk for hereditary breast and ovarian cancer.Translational behavioral medicine · 2023Article
- Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations.Human genomics · 2023Article
- Prevalence of BRCA1 and BRCA2 pathogenic variants in 8627 unselected patients with breast cancer: stratification of age at diagnosis, family history and molecular subtype.Breast cancer research and treatment · 2022Article
- A review of the neurological complications of breast cancer.Journal of family medicine and primary care · 2022Review
- 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
- Hereditary cancer panel testing challenges and solutions for the latinx community: costs, access, and variants.Journal of community genetics · 2022Article
36 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
19 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo determine the prevalence and type of BRCA1 and BRCA2 (BRCA) mutations among Hispanics in the Southwestern United States and their potential impact on genetic cancer risk assessment (GCRA). PATIENTS AND
methodsHispanics (n = 746) with a personal or family history of breast and/or ovarian cancer were enrolled in an institutional review board-approved registry and received GCRA and BRCA testing within a consortium of 14 clinics. Population-based Hispanic breast cancer cases (n = 492) enrolled in the Northern California Breast Cancer Family Registry, negative by sequencing for BRCA mutations, were analyzed for the presence of the BRCA1 ex9-12del large rearrangement.
resultsDeleterious BRCA mutations were detected in 189 (25%) of 746 familial clinic patients (124 BRCA1, 65 BRCA2); 21 (11%) of 189 were large rearrangement mutations, of which 62% (13 of 21) were BRCA1 ex9-12del. Nine recurrent mutations accounted for 53% of the total. Among these, BRCA1 ex9-12del seems to be a Mexican founder mutation and represents 10% to 12% of all BRCA1 mutations in clinic- and population-based cohorts in the United States.
conclusionBRCA mutations were prevalent in the largest study of Hispanic breast and/or ovarian cancer families in the United States to date, and a significant proportion were large rearrangement mutations. The high frequency of large rearrangement mutations warrants screening in every case. We document the first Mexican founder mutation (BRCA1 ex9-12del), which, along with other recurrent mutations, suggests the potential for a cost-effective panel approach to ancestry-informed GCRA.
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What OpenQuestion holds
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.