Diagnosis of Lynch syndrome and strategies to distinguish Lynch-related tumors from sporadic MSI/dMMR tumors

J Leclerc, C Vermaut, MP Buisine - Cancers, 2021 - mdpi.com
Simple Summary Microsatellite instability (MSI) is a hallmark of Lynch syndrome (LS)-related
tumors but is not specific, as most of MSI/mismatch repair-deficient (dMMR) tumors are …

How should we test for Lynch syndrome? A review of current guidelines and future strategies

R Gallon, P Gawthorpe, RL Phelps, C Hayes… - Cancers, 2021 - mdpi.com
Simple Summary Carriers of Lynch syndrome (LS) have an increased risk for several types
of tumour, in particular bowel and uterine cancers. LS is caused by inheritance of a faulty …

Risk of cancer in individuals with Lynch-like syndrome and their families: a systematic review

PP Nugroho, SAS Ghozali, DD Buchanan… - Journal of Cancer …, 2023 - Springer
Background Lynch-like syndrome (LLS) tumors have similar clinicopathological features to
Lynch syndrome (LS) tumors but have no identifiable pathogenic germline mismatch repair …

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families

CAM Weber, N Krönke, V Volk, B Auber… - Acta Neuropathologica …, 2023 - Springer
Pathogenic germline variants in the DNA polymerase genes POLE and POLD1 cause
polymerase proofreading-associated polyposis, a dominantly inherited disorder with …

Data set for the reporting of endometrial cancer: recommendations from the International Collaboration on Cancer Reporting (ICCR)

X Matias-Guiu, CI Selinger, L Anderson… - International Journal …, 2022 - journals.lww.com
Endometrial cancer is one of the most common cancers among women. The International
Collaboration on Cancer Reporting (ICCR) developed a standardized endometrial cancer …

DNA methylation-based patterns for early diagnostic prediction and prognostic evaluation in colorectal cancer patients with high tumor mutation burden

H Huang, W Cao, Z Long, L Kuang, X Li, Y Feng… - Frontiers in …, 2023 - frontiersin.org
Background Immune checkpoint inhibitor (ICI) therapy has proven to be a promising
treatment for colorectal cancer (CRC). We aim to investigate the relationship between DNA …

A Previously Unrecognized Molecular Landscape of Lynch Syndrome in the Mexican Population

A Padua-Bracho, JA Velázquez-Aragón… - International Journal of …, 2022 - mdpi.com
Lynch syndrome (LS) is the main hereditary colorectal cancer syndrome. There have been
few reports regarding the clinical and molecular characteristics of LS patients in Latin …

Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis

A Bilyalov, A Danishevich, S Nikolaev, N Vorobyov… - Cancers, 2023 - mdpi.com
Simple Summary This study addresses the global healthcare challenge of cancer by
investigating hereditary cancer syndromes (HCS) and their genetic underpinnings. Using a …

Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing

C Tous, C Muñoz-Redondo, N Bravo-Gil… - International Journal of …, 2023 - mdpi.com
Thyroid carcinoma (TC) can be classified as medullary (MTC) and non-medullary (NMTC).
While most TCs are sporadic, familial forms of MTC and NMTC also exist (less than 1% and …

Identifying epigenetic aging moderators using the epigenetic pacemaker

C Farrell, C Hu, K Lapborisuth, K Pu, S Snir… - Frontiers in …, 2024 - frontiersin.org
Epigenetic clocks are DNA methylation-based chronological age prediction models that are
commonly employed to study age-related biology. The difference between the predicted and …