ArticleMolecular syndromology2022
Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing.
Article in Molecular syndromology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- First report of MUTYH-associated polyposis with c.1353_1355del and c.452A>G mutations in Tolima Grande region from Colombia: a case report.Frontiers in oncology · 2026Article
- Clinicopathological and genotypic characteristics of colorectal cancer patients carrying a germline MUTYH mutation.Revista da Associacao Medica Brasileira (1992) · 2026Article
- Utility of Germline, Somatic and ctDNA Testing in Adults With Cancer.Cancer medicine · 2025Review
- Comment on Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.European journal of human genetics : EJHG · 2025Article
- Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.American journal of human genetics · 2024Article
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Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A hereditary cancer syndrome is a genetic predisposition to cancer caused by a germline mutation in cancer-related genes. Identifying the disease-causing variant is important for both the patient and relatives at risk in cancer families because this could be a guide in treatment and secondary cancer prevention. In this study, hereditary cancer panel harboring cancer-related genes was performed on MiSeq Illumina NGS system from peripheral blood samples. Sequencing files were fed into a cloud-based data analysis pipeline. Reportable variants were classified according to the American College of Medical Genetics and Genomics guidelines. Three hundred five individuals were included in the study. Different pathogenic/likely pathogenic variants were detected in 75 individuals. The majority of these variants were in the
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