Update on Lynch syndrome genomics

• A multilevel perspective on MSH6 ‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

  2026 International Journal of Cancer article Medicine Genetic factors in colorectal cancer Open access

  3

  citations
• Lower Degree of Microsatellite Instability in Colorectal Carcinomas From MSH6-Associated Lynch Syndrome Patients

  2025 Modern Pathology article Medicine Genetic factors in colorectal cancer Open access

  13

  citations
• Immunological profiles in Lynch syndrome colorectal cancers are not specific to mismatch repair gene defects

  2024 medRxiv preprint Medicine Genetic factors in colorectal cancer Open access

  1

  citations
• Lower degree of microsatellite instability in colorectal carcinomas from MSH6 -associated Lynch syndrome patients

  2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Genetic factors in colorectal cancer Open access

  2

  citations
• Emerge of colorectal cancer in Lynch syndrome despite colonoscopy surveillance: A challenge of hide and seek

  2024 Critical Reviews in Oncology/Hematology article Medicine Genetic factors in colorectal cancer Open access

  11

  citations
• MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome

  2023 Journal of Molecular Diagnostics article Medicine Genetic factors in colorectal cancer Open access

  27

  citations
• Molecular functions of MCM8 and MCM9 and their associated pathologies

  2023 iScience article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access

  30

  citations
• PMS2-associated Lynch syndrome: Past, present and future

  2023 Frontiers in Oncology article Medicine Genetic factors in colorectal cancer Open access

  24

  citations
• Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

  2022 Gastroenterology article Medicine Genetic factors in colorectal cancer Open access

  28

  citations
• Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis

  2022 Cancers article Medicine Genetic factors in colorectal cancer Open access

  3

  citations
• MSI testing

  2021 Der Pathologe article Medicine Genetic factors in colorectal cancer

  22

  citations
• No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

  2021 Journal of Clinical Medicine article Medicine Genetic factors in colorectal cancer Open access

  18

  citations
• MSI-Testung

  2021 Der Pathologe article Medicine Genetic factors in colorectal cancer

  8

  citations
• The diverse molecular profiles of lynch syndrome-associated colorectal cancers are (highly) dependent on underlying germline mismatch repair mutations

  2021 Critical Reviews in Oncology/Hematology article Medicine Genetic factors in colorectal cancer Open access

  33

  citations
• Progress Report: New insights into the prevention of CRC by colonoscopic surveillance in Lynch syndrome

  2021 Familial Cancer article Medicine Genetic factors in colorectal cancer Open access

  7

  citations
• Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

  2020 Genetics in Medicine article Medicine Genetic factors in colorectal cancer Open access cited by 2 patents

  27

  citations

16 results