Interpretation of constitutional cancer predisposition gene variants in 14 765 individuals in the 100 000 Genomes Project cancer arm: a retrospective cohort analysis - PubMed
21 hours ago
- #Cancer Predisposition
- #Genomics
- #Germline Variants
- Analysis of constitutional cancer predisposition gene variants in 14,765 individuals from the UK 100,000 Genomes Project cancer cohort.
- 5% of participants carried pathogenic or likely pathogenic variants, with CHEK2 and BRCA2 being the most frequently affected genes.
- Variant rates varied by tumor type, with ovarian cancer showing the highest proportion (9%) of pathogenic/likely pathogenic variants.
- 45% of pathogenic/likely pathogenic variants had a known association with the diagnosed tumor, highlighting gene-specific clinical relevance.
- The study emphasizes the need for careful variant interpretation and expansive genetic testing to optimize clinical utility and avoid unnecessary interventions.