ArticleGenetics in medicine : official journal of the American College of Medical Genetics2014
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 178 papers, 3 of them syntheses that pooled it.
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178 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Patient perspectives on risk-reducing salpingectomy with delayed oophorectomy for ovarian cancer risk-reduction: A systematic review of the literature.Gynecologic oncology · 2023Pooled it
- Summary ofGenes · 2020Pooled it
- Genetic tests to identify risk for breast cancer.Seminars in oncology nursing · 2015Pooled it
- Randomized Noninferiority Trial of Telephone vs In-Person Disclosure of Germline Cancer Genetic Test Results.Journal of the National Cancer Institute · 2018Trial
- Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.Human genomics · 2026Article
- Hereditary ovarian cancer in women with African ancestry: a scoping review.Familial cancer · 2026Article
- Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47International journal of molecular sciences · 2026Article
- Cost-effectiveness and budget impact of breast cancer genetic profiling in Egypt.Ecancermedicalscience · 2026Review
- Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes.Future science OA · 2025Article
- Shaping Precision Medicine: The Journey of Sequencing Technologies Across Human Solid Tumors.Biomedicines · 2025Review
- Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.JCO precision oncology · 2025Article
- Association of gene variant type and location with breast cancer risk in the general population.Annals of oncology : official journal of the European Society for Medical Oncology · 2025Article
- Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.Cancers · 2025Article
- Precision genome editing and in-cell measurements of oxidative DNA damage repair enable functional and mechanistic characterization of cancer-associated MUTYH variants.Nucleic acids research · 2025Article
- Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing.Genetics in medicine open · 2025Article
- The Impact of Li-Fraumeni and Germline Retinoblastoma Mutations on Leiomyosarcoma Initiation, Outcomes, and Genetic Testing Recommendations.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Implications of genetic testing and informed consent before and after genetic testing in individuals with cancer.World journal of clinical oncology · 2024Article
- XRCC2 driven homologous recombination subtypes and therapeutic targeting in lung adenocarcinoma metastasis.NPJ precision oncology · 2024Article
- Review
- Anthracycline-related cardiotoxicity in patients with breast cancer harboring mutational signature of homologous recombination deficiency (HRD).ESMO open · 2024Article
118 more citing papers are in PubMed but not listed here.
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14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe aim of this study was to determine the clinical and molecular characteristics of 2,079 patients who underwent hereditary cancer multigene panel testing.
methodsPanels included comprehensive analysis of 14-22 cancer susceptibility genes (BRCA1 and BRCA2 not included), depending on the panel ordered (BreastNext, OvaNext, ColoNext, or CancerNext). Next-generation sequencing and deletion/duplication analyses were performed for all genes except EPCAM (deletion/duplication analysis only). Clinical histories of ColoNext patients harboring mutations in genes with well-established diagnostic criteria were assessed to determine whether diagnostic/testing criteria were met.
resultsPositive rates were defined as the proportion of patients with a pathogenic mutation/likely pathogenic variant(s) and were as follows: 7.4% for BreastNext, 7.2% for OvaNext, 9.2% for ColoNext, and 9.6% for CancerNext. Inconclusive results were found in 19.8% of BreastNext, 25.6% of OvaNext, 15.1% of ColoNext, and 23.5% of CancerNext tests. Based on information submitted by clinicians, 30% of ColoNext patients with mutations in genes with well-established diagnostic criteria did not meet corresponding criteria.
conclusionOur data point to an important role for targeted multigene panels in diagnosing hereditary cancer predisposition, particularly for patients with clinical histories spanning several possible diagnoses and for patients with suspicious clinical histories not meeting diagnostic criteria for a specific hereditary cancer syndrome.
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