ArticleESMO open2021
Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.
Article in ESMO open, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 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
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 64 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
- Incidence of pelvic high-grade serous carcinoma after isolated STIC diagnosis: A systematic review of the literature.Frontiers in oncology · 2022Pooled it
- Liquid biopsy: a new window on the BRCA genes.ESMO open · 2026Review
- Insights into Ovarian Cancer: Unraveling the Role of DNA Double-strand Break-related Genes in Pathogenesis and Therapeutic Avenues.Reproductive sciences (Thousand Oaks, Calif.) · 2026Review
- Is Genetic Testing of HER2-Negative Metastatic Breast Cancer Patients Implemented into Clinical Practice? A Retrospective Analysis.Journal of clinical medicine · 2026Article
- Re-evaluating hereditary breast and ovarian cancer risk: clinical impact of updated multigene panel sequencing and genetic counseling.Familial cancer · 2026Article
- Homologous recombination repair genetic testing variables and diagnostic paths for prostate cancer patients: a multicenter cohort study.The oncologist · 2025Observational
- Reclassification ofEuropean journal of breast health · 2025Article
- Mutational spectrum of BRCA genes in Egyptian patients with breast cancer.Scientific reports · 2025Article
- Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes withGenes · 2025Article
- Next-Generation Sequencing in Oncology-A Guiding Compass for Targeted Therapy and Emerging Applications.International journal of molecular sciences · 2025Review
- Hereditary Pancreatic Cancer: Advances in Genetic Testing, Early Detection Strategies, and Personalized Management.Journal of clinical medicine · 2025Review
- Genetic landscape of Romanian PPGLs.Journal of cellular and molecular medicine · 2024Article
- High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.International journal of molecular sciences · 2024Article
- Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service.Familial cancer · 2024Article
- Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.Current issues in molecular biology · 2024Article
- Polθ: emerging synthetic lethal partner in homologous recombination-deficient tumors.Cancer gene therapy · 2024Review
- The intersection of homologous recombination (HR) and mismatch repair (MMR) pathways in DNA repair-defective tumors.NPJ precision oncology · 2024Review
- Article
- Breast cancers in monoallelic MUTYH germline mutation carriers have clinicopathological features overlapping with those in BRCA1 germline mutation carriers.Breast cancer research and treatment · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary breast cancer (BC), ovarian cancer (OC), and pancreatic cancer (PC) are the major BRCA-associated tumours. However, some BRCA1/2-wild-type (wt) patients with a strong personal and/or family history of cancer need a further genetic testing through a multi-gene panel containing other high- and moderate-risk susceptibility genes. PATIENTS AND
methodsOur study was aimed to assess if some BC, OC, or PC patients should be offered multi-gene panel testing, based on well-defined criteria concerning their personal and/or family history of cancer, such as earliness of cancer onset, occurrence of multiple tumours, or presence of at least two or more affected first-degree relatives. For this purpose, 205 out of 915 BC, OC, or PC patients, resulted negative for BRCA1/2 and with significant personal and/or family history of cancer, were genetically tested for germline pathogenic or likely pathogenic variants (PVs/LPVs) in genes different from BRCA1/2.
resultsOur investigation revealed that 31 (15.1%) out of 205 patients harboured germline PVs/LPVs in no-BRCA genes, including PALB2, CHEK2, ATM, MUTYH, MSH2, and RAD51C. Interestingly, in the absence of an analysis conducted through multi-gene panel, a considerable percentage (15.1%) of PVs/LPVs would have been lost.
conclusionsProviding a multi-gene panel testing to BRCA1/2-wt BC/OC/PC patients with a strong personal and/or family history of cancer could significantly increase the detection rates of germline PVs/LPVs in other cancer predisposition genes beyond BRCA1/2. The use of a multi-gene panel testing could improve the inherited cancer risk estimation and clinical management of patients and unaffected family members.
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