ArticlePloS one2018
Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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16 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Unexplained mismatch repair deficiency: Case closed.HGG advances · 2023Pooled it
- Genetic Alterations Involved in Immune Escape Mechanisms of Circulating Tumour Cells in Colorectal Carcinogenesis.Cancer medicine · 2026Review
- Perturbation-Theory Machine Learning for Multi-Target Drug Discovery in Modern Anticancer Research.Current issues in molecular biology · 2025Review
- Ligand-Based Approach for Multi-Target Drug Discovery: PTML Modeling of Triple-Target Inhibitors.Current topics in medicinal chemistry · 2025Article
- Coinheritance of HNF1A and glucokinase variants in maturity-onset diabetes of the young.Endocrinology, diabetes & metabolism case reports · 2024Article
- Germline Variants in MLH1 and ATM Genes in a Young Patient with MSI-H in a Precancerous Colonic Lesion.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
- Repurposing non-invasive prenatal testing data: Population study of single nucleotide variants associated with colorectal cancer and Lynch syndrome.Oncology letters · 2021Article
- From APC to the genetics of hereditary and familial colon cancer syndromes.Human molecular genetics · 2021Review
- Comparison of Colorectal and Endometrial Microsatellite Instability Tumor Analysis and PremmJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2020Article
- The missing heritability of familial colorectal cancer.Mutagenesis · 2020Review
- Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes.Journal of clinical medicine · 2020Review
- New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.Frontiers in genetics · 2020Article
- Exome sequencing in 51 early onset non-familial CRC cases.Molecular genetics & genomic medicine · 2019Article
- Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.Frontiers in oncology · 2019Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Half of the high-risk colorectal cancer families that fulfill the clinical criteria for Lynch syndrome lack germline mutations in the mismatch repair (MMR) genes and remain unexplained. Genetic testing for hereditary cancers is rapidly evolving due to the introduction of multigene panels, which may identify more mutations than the old screening methods. The aim of this study is the use of a Next Generation Sequencing panel in order to find the genes involved in the cancer predisposition of these families. For this study, 98 patients from these unexplained families were tested with a multigene panel targeting 94 genes involved in cancer predisposition. The mutations found were validated by Sanger sequencing and the segregation was studied when possible. We identified 19 likely pathogenic variants in 18 patients. Out of these, 8 were found in MMR genes (5 in MLH1, 1 in MSH6 and 2 in PMS2). In addition, 11 mutations were detected in other genes, including high penetrance genes (APC, SMAD4 and TP53) and moderate penetrance genes (BRIP1, CHEK2, MUTYH, HNF1A and XPC). Mutations c.1194G>A in SMAD4, c.714_720dup in PMS2, c.2050T>G in MLH1 and c.1635_1636del in MSH6 were novel. In conclusion, the detection of new pathogenic mutations in high and moderate penetrance genes could contribute to the explanation of the heritability of colorectal cancer, changing the individual clinical management. Multigene panel testing is a more effective method to identify germline variants in cancer patients compared to single-gene approaches and should be therefore included in clinical laboratories.
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