ArticleInternational journal of oncology2022
Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
Article in International journal of oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Association between gestational diabetes mellitus and risk of breast cancer: a systematic review and meta-analysis.Frontiers in endocrinology · 2025Pooled it
- Differential roles of BRCA1 and BRCA2 in the DNA damage response revealed by isogenic V79 mutant cell lines.Mutagenesis · 2026Article
- Review
- Prevalence of homologous recombination deficiency in ovarian, primary peritoneal, and/or fallopian tube cancer: results from HALO-Taiwan subset.Journal of gynecologic oncology · 2026Article
- Exploring the Therapeutic Potential ofPharmaceuticals (Basel, Switzerland) · 2025Review
- BRCA2 C-terminal clamp restructures RAD51 dimers to bind B-DNA for replication fork stability.Molecular cell · 2025Article
- Identification of CXCL13 as a Promising Biomarker for Immune Checkpoint Blockade Therapy and PARP Inhibitor Therapy in Ovarian Cancer.Molecular biotechnology · 2025Article
- Role of DNA methylation and non‑coding RNAs expression in pathogenesis, detection, prognosis, and therapy‑resistant ovarian carcinoma (Review).Molecular medicine reports · 2025Review
- Recent advances on gene-related DNA methylation in cancer diagnosis, prognosis, and treatment: a clinical perspective.Clinical epigenetics · 2025Review
- Identification of a novel chemotherapy benefit index for patients with advanced ovarian cancer based on Bayesian network analysis.PloS one · 2025Article
- MicroRNA‑mediated approaches in ovarian cancer therapy: A comprehensive systematic review.Oncology letters · 2024Article
- Public neoantigens in breast cancer immunotherapy (Review).International journal of molecular medicine · 2024Review
- Methylation‑sensitive restriction enzyme‑droplet digital PCR assay for the one‑step highly sensitive analysis of DNA methylation hotspots.International journal of molecular medicine · 2024Article
- Predictive Value and Therapeutic Significance of Somatic BRCA Mutation in Solid Tumors.Biomedicines · 2024Review
- BRCA Mutations and Fertility Preservation.International journal of molecular sciences · 2023Review
- Review
- MicroRNAs as Potential Biomarkers in Gynecological Cancers.Biomedicines · 2023Review
- Polygenic Risk Score Predicts Modified Risk inCancers · 2023Article
- Review
- Identification and Validation of Autophagy-Related Genes in Primary Ovarian Insufficiency by Gene Expression Profile and Bioinformatic Analysis.Analytical cellular pathology (Amsterdam) · 2022Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Breast and ovarian cancer represent two of the most common tumor types in females worldwide. Over the years, several non‑modifiable and modifiable risk factors have been associated with the onset and progression of these tumors, including age, reproductive factors, ethnicity, socioeconomic status and lifestyle factors, as well as family history and genetic factors. Of note, BRCA1 and BRCA2 are two tumor suppressor genes with a key role in DNA repair processes, whose mutations may induce genomic instability and increase the risk of cancer development. Specifically, females with a family history of breast or ovarian cancer harboring BRCA1/2 germline mutations have a 60‑70% increased risk of developing breast cancer and a 15‑40% increased risk for ovarian cancer. Different databases have collected the most frequent germline mutations affecting BRCA1/2. Through the analysis of such databases, it is possible to identify frequent hotspot mutations that may be analyzed with next‑generation sequencing (NGS) and novel innovative strategies. In this context, NGS remains the gold standard method for the assessment of BRCA1/2 mutations, while novel techniques, including droplet digital PCR (ddPCR), may improve the sensitivity to identify such mutations in the hereditary forms of breast and ovarian cancer. On these bases, the present study aimed to provide an update of the current knowledge on the frequency of BRCA1/2 mutations and cancer susceptibility, focusing on the diagnostic potential of the most recent methods, such as ddPCR.
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