Gabriel Capellá

Phenotype correlations with pathogenic DNA variants in the MUTYH gene

This paper reviews the phenotypic spectrum of MUTYH-associated polyposis (MAP) to clarify associations between pathogenic MUTYH variants and various cancers and extracolonic manifestations.

Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel

The paper specifies MMR gene-specific criteria to the ACMG/AMP classification system, reclassifying some variants and providing a framework for improved pathogenicity assessment.

Systematic large-scale application of ClinGen InSiGHT APC-specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases

Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome

This study evaluates the ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome individuals, finding weak associations in specific subgroups.

Benchmark of tools for CNV detection from NGS panel data in a genetic diagnostics context

This study benchmarks CNV detection tools on NGS panel data for genetic diagnostics, finding DECoN and panelcn.MOPS suitable as screening methods with optimized parameters.