ArticleCancer medicine2018
Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families.
Article in Cancer medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Adjusting for Ascertainment Bias in Meta-Analysis of Penetrance for Cancer Risk.Statistics in medicine · 2025Pooled it
- Summary ofGenes · 2020Pooled it
- Gender-Specific Genetic Predisposition to Breast Cancer:Cancers · 2024Review
- HER2-Low Expression in Male Breast Cancer: Results from a Multicenter Series in Italy.Cancers · 2024Article
- Next-generation sequencing uncovers crucial mutated genes and potential therapeutic targets in ovarian cancer patients.American journal of translational research · 2024Article
- Exploration of BRCA1 and BRCA2 mutations in gastric cancer patients through next generation sequencing: implications for diagnosis and therapy.American journal of translational research · 2024Article
- Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel.PloS one · 2023Article
- Guideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer.Breast cancer (Dove Medical Press) · 2023Article
- Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.Journal of the National Cancer Institute · 2022Review
- Cross-continental admixture in the Kho population from northwest Pakistan.European journal of human genetics : EJHG · 2022Article
- Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.Molecular genetics and genomics : MGG · 2022Article
- Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors.Frontiers in oncology · 2022Review
- A novel BRCA2 splice variant identified in a young woman.Molecular genetics & genomic medicine · 2020Article
- Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer.Cancer science · 2020Article
- Prevalence of disease-causing genes in Japanese patients withNPJ breast cancer · 2020Article
- BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance.Nature communications · 2019Article
- Multi gene panel testing for hereditary breast cancer - is it ready to be used?Medicine and pharmacy reports · 2019Review
- Identification of novelPeerJ · 2019Article
- Next-generation sequencing ofPeerJ · 2019Article
Corrections and comments
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The introduction of multigene panel testing for hereditary breast/ovarian cancer screening has greatly improved efficiency, speed, and costs. However, its clinical utility is still debated, mostly due to the lack of conclusive evidences on the impact of newly discovered genetic variants on cancer risk and lack of evidence-based guidelines for the clinical management of their carriers. In this pilot study, we aimed to test whether a systematic and multiparametric characterization of newly discovered mutations could enhance the clinical utility of multigene panel sequencing. Out of a pool of 367 breast/ovarian cancer families Sanger-sequenced for BRCA1 and BRCA2 gene mutations, we selected a cohort of 20 BRCA1/2-negative families to be subjected to the BROCA-Cancer Risk Panel massive parallel sequencing. As a strategy for the systematic characterization of newly discovered genetic variants, we collected blood and cancer tissue samples and established lymphoblastoid cell lines from all available individuals in these families, to perform segregation analysis, loss-of-heterozygosity and further molecular studies. We identified loss-of-function mutations in 6 out 20 high-risk families, 5 of which occurred on BRCA1, CHEK2 and ATM and are esteemed to be risk-relevant. In contrast, a novel RAD50 truncating mutation is most likely unrelated to breast cancer. Our data suggest that integrating multigene panel testing with a pre-organized, multiparametric characterization of newly discovered genetic variants improves the identification of risk-relevant alleles impacting on the clinical management of their carriers.
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