ArticleLancet regional health. Americas2026
Genomic landscape of hereditary cancer syndromes in the largest cohort in Colombia: a retrospective study.
Article in Lancet regional health. Americas, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.Human genomics · 2026Article
- 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
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10 authors.
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Abstract
Background: Considerable fraction of global cancer cases stem from hereditary cancer predisposition syndromes (HCSs). The identification of genetic variants linked to HCSs is crucial for prompt treatment of both patients and their families. This study aimed to assess the diagnostic performance of multigene panels in detecting variants linked to hereditary cancer predisposition in a cohort of 8165 individuals from Colombia. Methods: We analyzed 8165 individuals in Colombia (2018-2024), with and without personal or family cancer history, using NGS hereditary cancer panels. Variant interpretation (P, LP, VUS) was performed with SOPHiA DDM and Varsome Clinical, following ACMG guidelines and ClinGen Hereditary Cancer Group criteria. Findings: 61.8% (n = 5049) of patients were referred from Bogotá and 38.10% (n = 3116) from other cities in Colombia. It was not possible to distinguish between ethnic groups. The age range of patients was 0-97 (mean = 55 years; SD = 12.1), 86% (n = 7024) were female and 14% (n = 1142) male. 409 P/LP variants were identified in high-penetrance genes such as Interpretation: This study provides insights into the performance of genetic panels for detecting HCS-associated variants in the largest Latin American cohort evaluated to date. These findings demonstrate that robust panel-based testing strategies enable the systematic detection of clinically relevant signs that would not be captured through phenotype-driven approaches alone. Funding: Fundación Universitaria Sanitas.
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