ArticleFamilial cancer2017
Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
Article in Familial cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06497270 (A 3D Bioprinted Hormone-producing Model for BRCA Mutated Patients After Risk Reducing Surgery), which is not on this map. Cited by 14 papers.
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The trial behind it
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A 3D Bioprinted Hormone-producing Model for BRCA Mutated Patients After Risk Reducing Surgery: the DISC-OVARY Trial
Who cites it
14 citing papers in PubMed.
- Identification and Computational Analysis ofMedical sciences (Basel, Switzerland) · 2026Article
- Genetic testing for hereditary breast and ovarian cancer in the Murcian population using a comprehensive NGS panel.Familial cancer · 2026Article
- Prediction of germline BRCA mutation using clinicopathologic, MRI semantic, and radiomics features in high-risk breast cancer patients: a multicenter study.Frontiers in radiology · 2026Article
- Functional characterization of BRCA1 variants of unknown significance using homologous recombination repair assays.Breast cancer research : BCR · 2025Article
- Mutational spectrum of BRCA genes in Egyptian patients with breast cancer.Scientific reports · 2025Article
- Prevalence of BRCA1 and BRCA2 mutations in ovarian cancer patients from Yunnan Province in southwest China.European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) · 2025Article
- Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.Current issues in molecular biology · 2024Article
- Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants.Hereditary cancer in clinical practice · 2024Article
- Landscape of germlineFrontiers in oncology · 2023Article
- Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.Molecular genetics and genomics : MGG · 2022Article
- Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).BMC cancer · 2020Article
- Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).BMC cancer · 2019Article
- Cost-utility analysis of germline BRCA1/2 testing in women with high-grade epithelial ovarian cancer in Spain.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2019Article
- Association BetweenFrontiers in pharmacology · 2018Article
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Authors and funding
18 authors.
Funding
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Abstract
This is the first study performed in Murcia (south-eastern Spain) in which 592 families with hereditary breast and ovarian cancer were identified thanks to Genetic Counselling Units from this area over 6 years. Diagnostic performance was 18.1% and 194 different genetic variants were obtained. Variants with uncertain significance accounted for only 5.6% of the total number of reports, so our population has been well characterised. In BRCA1 gene, two novel variants were found (c.1859delT and c.3205C > T) and the most frequently detected mutations were c.68_69delAG, c.212 + 1G > A, c.5123C > A, c.211A > G and c.1918C > T, which together represented 56.67% of total pathogenic mutations. In BRCA2 gene, four recurrent variants were described (deletion of entire exon 2, c.9117G > A, c.3264dupT and c.3455T > G) representing 43.5% of the mutations in this gene. Mutation c.68_69delAG and deletion of entire exon 2 in BRCA1 and BRCA2 genes respectively were the most prevalent variants in our population. Regarding the genotype-phenotype relation, mutation c.212 + 1G > A appeared in an important percentage of breast and ovarian cancer cases, c.5123C > A in bilateral breast cancer and c.9117G > A in bilateral breast cancer and ovarian cancer. With respect to clinical-pathological characteristic, BRCA1/BRCA2 mutation carriers showed earlier onset age of breast tumour and higher risk of developing contra lateral breast cancer than non-informative cases. Moreover, association between either molecular subtype triple negative breast cancer or ovarian cancer and BRCA1 carriers was obtained.
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