Real-World Impact of Metformin on Outcomes in Patients with Deficient DNA Mismatch Repair and Microsatellite Instability (dMMR/MSI) Colorectal Cancer Treated with Immune Checkpoint Inhibitors. [PDF]
Gupta G +13 more
europepmc +1 more source
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer +11 more
wiley +1 more source
Genomic Alterations in DNA Mismatch Repair Genes Across Different Cancer Types. [PDF]
Holla VR +11 more
europepmc +1 more source
Living at genetic risk: The patient experience of Lynch syndrome
Abstract Lynch syndrome is a germline cancer predisposition syndrome caused by a variant in one of four genes. Lynch syndrome places individuals at significantly higher risk for a range of cancers, especially colorectal and endometrial. Depending on which gene is affected, the risk of ovarian, gastric, small bowel, pancreatic, biliary urothelial, brain,
Nicola Reents +2 more
wiley +1 more source
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia +4 more
wiley +1 more source
Nonrepair functions of DNA mismatch repair proteins: new avenues for precision oncology. [PDF]
DeWitt JT, Raghunathan M, Haricharan S.
europepmc +1 more source
ABSTRACT Colorectal cancer (CRC) remains a leading cause of cancer‐related morbidity and mortality worldwide yet is largely preventable through effective screening and surveillance. While most CRC cases are sporadic, a substantial proportion occur in individuals at increased risk due to hereditary cancer syndromes or family history who require tailored
Ophir Gilad +5 more
wiley +1 more source
Correlation between Isocitrate Dehydrogenase Mutation and Immunohistochemical Expression of DNA Mismatch Repair Proteins in the Prognosis of Gliomas. [PDF]
Saeed NM +12 more
europepmc +1 more source
Evaluation of Mutation Risk Using Patient‐Derived Organoids in Patients With Lynch Syndrome
ABSTRACT Lynch syndrome (LS) is a hereditary cancer predisposition syndrome caused by germline mutation of DNA mismatch repair (MMR) genes, most notably associated with colorectal cancer. Although LS patients face high risk of CRC, risk can vary even among those with the same pathogenic MMR germline mutations. We suggest a functional assay platform for
Youmi Shin +10 more
wiley +1 more source
DNA Mismatch Repair Gene Mosaicism Is Rare in People With Mismatch Repair-Deficient Cancers. [PDF]
Walker R +6 more
europepmc +1 more source

