Area of research
Pathology and Forensic Medicine · Cancer Research
Research interest
Research focused on Lynch syndrome and Cancer, with related work in Incidence (geometry), Genetics, Missense mutation. Notable publications include 'Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts', 'Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database', and 'Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database'.
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement
PMS2-associated Lynch syndrome: Past, present and future
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
Investigation of Rare Non-Coding Variants in Familial Multiple Myeloma
Is <scp>HLA</scp> type a possible cancer risk modifier in Lynch syndrome?
Characterization of rare germline variants in familial multiple myeloma
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
A rare large duplication of MLH1 identified in Lynch syndrome
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Cancer Predisposition Genes in Cancer-Free Families
Characterization of Rare Germline Variants in Familial Multiple Myeloma
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome
Cancer risk and survival in <i>path_MMR</i> carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
Lynch Syndrome Caused by Germline <i>PMS2</i> Mutations: Delineating the Cancer Risk
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Diagnostic interpretation of array data using public databases and internet sources
Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions