Area of research
Pathology and Forensic Medicine · Cancer Research
Research interest
Research interests include Medicine, Lynch syndrome, Colorectal cancer, Genetics, Biology, and DNA mismatch repair.
Lower Degree of Microsatellite Instability in Colorectal Carcinomas From MSH6-Associated Lynch Syndrome Patients
Emerge of colorectal cancer in Lynch syndrome despite colonoscopy surveillance: A challenge of hide and seek
Lower degree of microsatellite instability in colorectal carcinomas from <i>MSH6</i> -associated Lynch syndrome patients
Immunological profiles in Lynch syndrome colorectal cancers are not specific to mismatch repair gene defects
PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis
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
Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome
PMS2-associated Lynch syndrome: Past, present and future
Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
The coding microsatellite mutation profile of PMS2-deficient colorectal cancer
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution
The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
Recurrent APC Splice Variant c.835-8A>G in Patients With Unexplained Colorectal Polyposis Fulfilling the Colibactin Mutational Signature
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect
The shared <i>neo</i> antigen landscape of MSI cancers reflects immunoediting during tumor evolution
Abstract 571: The shared mutation and <i>neo</i>antigen landscape of MMR-deficient colorectal cancers suggests immunoediting during tumor evolution
Comprehensive Study of the Clinical Phenotype of Germline<i>BAP1</i>Variant-Carrying Families Worldwide
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy
Lynch Syndrome Caused by Germline <i>PMS2</i> Mutations: Delineating the Cancer Risk