ArticleBMC cancer2019
Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
Article in BMC cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Association between BRCA mutational status and survival in patients with breast cancer: a systematic review and meta-analysis.Breast cancer research and treatment · 2021Pooled it
- Prevalence of BRCA1 and BRCA2 Germline Mutations in Western Saudi Patients with Epithelial Tubo-Ovarian Carcinoma.Saudi medical journal · 2026Article
- Treatment, outcomes, and resource utilization among patients with metastatic breast and advanced epithelial ovarian cancer, by BRCA1/2 and HRD status.The oncologist · 2025Article
- Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants.Hereditary cancer in clinical practice · 2024Article
- BRCA1 and Its Vulnerable C-Terminal BRCT Domain: Structure, Function, Genetic Mutations and Links to Diagnosis and Treatment of Breast and Ovarian Cancer.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Targeting Breast Cancer: An Overlook on Current Strategies.International journal of molecular sciences · 2023Review
- Response to Ovarian Stimulation for Urgent Fertility Preservation before Gonadotoxic Treatment inCancers · 2023Article
- Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.PloS one · 2023Article
- Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.BMC cancer · 2022Article
- Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.Molecular genetics and genomics : MGG · 2022Article
- The Features ofInternational journal of general medicine · 2022Article
- Prognostic Prediction of BRCA Mutations byMolecular imaging and radionuclide therapy · 2021Article
- Double Heterozygous Mutations in theBreast care (Basel, Switzerland) · 2021Article
- Correction to: Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).BMC cancer · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
8 authors.
Funding
Abstract
backgroundGenetic testing for BRCA1/2 genes is widely used as a strategy to reduce incidence and morbidity of hereditary breast and ovarian cancer (HBOC). The purpose of this study is to analyse the demographic and molecular characteristics of BRCA germline mutations in Navarra, Spain, and to investigate the clinical profile of hereditary and sporadic breast cancer (BC) and ovarian cancer (OC) in the Community.
methodsThe study includes 1246 individuals assessed for BRCA1/2 genetic testing in Navarra, during 2000-2016, and a cohort of BC (n = 4384) and OC (n = 561) from the population-based Navarra Cancer Registry. Distribution and molecular characteristics of BRCA1/2 mutations, as well as, comparative analysis of the clinical course, pathologic features and overall survival (OS) of patients in different risk groups were investigated.
resultsBRCA mutation detection rate was 16%, with higher proportion (63%) of BRCA2 families. Nineteen per cent of mutations were recurrent, one of which, BRCA2 c.6024dupG, showed high association to OC. BRCA carriers had double risk (95% CI = 1.04-4.33) of developing multiple malignancies than low risk families and were diagnosed at a much earlier age (16.6 and 11.7 years difference for BC and OC, respectively) when compared to the general population. For BC, BRCA carriers showed a more advanced histological stage, higher risk of bilateral neoplasms (OR = 4.3; 95% CI = 1.3-11.4, for BRCA2 carriers) and worse OS rate at 5-, 10- and 15- years, than women with sporadic tumors. For OC, over 70% of patients of all risk groups showed advanced stages at diagnosis, with the highest among BRCA1 carriers (91%). Furthermore, they also had higher probability of developing ovarian bilateral tumors (OR = 7.8, 95% CI = 1.7-55.7, for BRCA1 carriers) than the general population. Five-year OS rate was worse among women with sporadic OC than BRCA carriers, but it levelled out over the 15-year period.
conclusionsIn addition to national similarities in the HBOC-BRCA1/2 associated mutational spectrum, we identified a recurrent BRCA2 pathogenic variant (c.6024dupG), highly associated to OC in Navarra. Carriers of BRCA1/2 mutations showed a more severe BC and OC phenotype and had a worse overall prognosis when compared to a large cohort of women with sporadic counterpart tumors.
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