ArticleHereditary cancer in clinical practice2019
Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).
Article in Hereditary cancer in clinical practice, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 15 citations in OpenAlex.
- GermlineJournal of personalized medicine · 2024Article
- A Novel FLCN Variant in a Suspected Birt-Hogg-Dubè Syndrome Patient.International journal of molecular sciences · 2023Article
- Structural modeling and analyses of genetic variations in the human XPC nucleotide excision repair protein.Journal of biomolecular structure & dynamics · 2023Article
- Article
- PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.Breast cancer research and treatment · 2022Article
- Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.Molecular genetics and genomics : MGG · 2022Article
- Case Report: AFrontiers in oncology · 2022Article
- Observational
- A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.Journal of translational medicine · 2020Article
- Inherited lung cancer: a review.Ecancermedicalscience · 2020Review
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17 authors at 7 institutions in 1 country.
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Abstract
backgroundApproximately 5 to 10% of all cancers are caused by inherited germline mutations, many of which are associated with different Hereditary Cancer Syndromes (HCS). In the context of the Program of Hereditary Cancer of the Valencia Community, individuals belonging to specific HCS and their families receive genetic counselling and genetic testing according to internationally established guidelines. The current diagnostic approach is based on sequencing a few high-risk genes related to each HCS; however, this method is time-consuming, expensive and does not achieve a confirmatory genetic diagnosis in many cases. This study aims to test the level of improvement offered by a Next Generation Sequencing (NGS) gene-panel compared to the standard approach in a diagnostic reference laboratory setting.
methodsA multi-gene NGS panel was used to test a total of 91 probands, previously classified as non-informative by analysing the high-risk genes defined in our guidelines.
resultsNineteen deleterious mutations were detected in 16% of patients, some mutations were found in already-tested high-risk genes (
conclusionsOverall, our findings reclassify several index cases into different HCS, and change the mutational status of 14 cases from non-informative to gene mutation carriers. In conclusion, we highlight the necessity of incorporating validated multi-gene NGS panels into the HCSs diagnostic routine to increase the performance of genetic diagnosis.
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