Finlay Macrae

This study identifies dysregulated epithelial cell death signaling in inflammatory bowel disease, showing it persists during remission despite therapy.

The paper shows adenomas from individuals with biallelic MUTYH or NTHL1 variants have mutational signatures similar to CRCs, suggesting adenomas can be used for variant classification and cancer prevention.

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

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

This study resolves the etiology of suspected Lynch syndrome tumors by analyzing somatic and germline mutations, methylation, and immunohistochemistry in 137 tumors, identifying key causes of DNA mismatch repair deficiency.

The paper evaluates multiple next-generation sequencing features to predict DNA mismatch repair status in tumors, finding that combining features improves accuracy across different cancer types.

This study evaluates a polygenic risk score for breast cancer in women aged 70 and older, finding it improves risk prediction beyond conventional factors.

This study uses germline and tumor whole genome sequencing to identify the cause of mismatch repair deficiency in suspected Lynch syndrome cases, finding that most cases are due to somatic mutations rather than inherited variants.

The paper screens healthy elderly individuals to identify those resilient to genetic diseases despite high genetic risk, finding 141 individuals without associated disease despite pathogenic variants.