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Prediction Models for Mismatch Repair Gene MutationsPrediction Models for Mismatch Repair Gene Mutations

This review catalogs the published criteria and prediction models available for determining which individuals and families are most likely to be carrying a MMR gene mutation for Lynch syndrome. Journal of Medical Genetics
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Pathology & Lab Medicine Journal Article Source Type: news

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Abstract The molecular pathogenesis and classification of colorectal carcinoma are based on the traditional adenomaecarcinoma sequence, serrated polyp pathway, and microsatellite instability (MSI). The genetic basis for hereditary nonpolyposis colorectal cancer is the detection of mutations in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes. Genetic testing for Lynch syndrome includes MSI testing, methylator phenotype testing, BRAF mutation testing, and molecular testing for germline mutations in MMR genes. Molecular makers with predictive and prognostic implications include quantitative multigene reverse transcriptas...
Source: Clinical Colorectal Cancer - Category: Cancer & Oncology Authors: Tags: Clin Lab Med Source Type: research
The molecular pathogenesis and classification of colorectal carcinoma are based on the traditional adenomaecarcinoma sequence, serrated polyp pathway, and microsatellite instability (MSI). The genetic basis for hereditary nonpolyposis colorectal cancer is the detection of mutations in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes. Genetic testing for Lynch syndrome includes MSI testing, methylator phenotype testing, BRAF mutation testing, and molecular testing for germline mutations in MMR genes. Molecular makers with predictive and prognostic implications include quantitative multigene reverse transcriptase polymerase chain...
Source: Clinics in Laboratory Medicine - Category: Laboratory Medicine Authors: Source Type: research
Authors: Gray PN, Tsai P, Chen D, Wu S, Hoo J, Mu W, Li B, Vuong H, Lu HM, Batth N, Willett S, Uyeda L, Shah S, Gau CL, Umali M, Espenschied C, Janicek M, Brown S, Margileth D, Dobrea L, Wagman L, Rana H, Hall MJ, Ross T, Terdiman J, Cullinane C, Ries S, Totten E, Elliott AM Abstract The current algorithm for Lynch syndrome diagnosis is highly complex with multiple steps which can result in an extended time to diagnosis while depleting precious tumor specimens. Here we describe the analytical validation of a custom probe-based NGS tumor panel, TumorNext-Lynch-MMR, which generates a comprehensive genetic profile of ...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
Germline variants in the mismatch repair genes MLH1, MSH2 (EPCAM), MSH6, or PMS2 cause Lynch syndrome. Patients with these variants have an increased risk of developing colorectal cancers (CRCs) that differ from sporadic CRCs in genetic and histologic features. It has been a challenge to study CRCs associated with PMS2 variants (PMS2-associated CRCs) because these develop less frequently and in patients of older ages than colorectal tumors with variants in the other mismatch repair genes.
Source: Gastroenterology - Category: Gastroenterology Authors: Source Type: research
AbstractLynch syndrome (LS) is one of the most common genetic cancer syndromes, occurring at a rate of 1 per 250 –1000 in the general population. This autosomal dominant disease is caused by a germline variant in one of the four mismatch repair genes,MSH2, MLH1, MSH6, PMS2, or theEPCAM gene. LS develops at early ages in colorectal cancer (CRC), endometrial cancer, and various other associated tumors. Accurate diagnosis of LS and utilization of various risk-reduction strategies such as surveillance, prophylactic surgery, and chemoprevention could improve clinical outcomes. The efficacy of surveillance has only been pr...
Source: International Journal of Clinical Oncology - Category: Cancer & Oncology Source Type: research
Lynch syndrome (LS) is the most common form of hereditary colon cancer (CRC). Germline mutations in the mismatch repair (MMR) genes MLH1, MSH2 (EPCAM), MSH6, and PMS2, followed by a second hit to the remaining allele leads to cancer development. Universal tumor screening for LS is routinely performed on CRC, and screening has identified patients with unexplained MMR deficiency that lack MLH1 methylation and a germline mutation. Tumor sequencing has since identified double somatic (DS) mutations in the MMR gene corresponding with the absent protein in 69% of these patients.
Source: Human Pathology - Category: Pathology Authors: Tags: Original contribution Source Type: research
Families with a history of Lynch syndrome often do not adhere to guidelines for genetic testing and screening. We investigated practice patterns related to Lynch syndrome worldwide, to ascertain potential targets for research and public policy efforts
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research
ConclusionsThese findings showed that these guidelines could be useful for identifying PC patients with DNA damage repair genes as well as MMR genes.
Source: Journal of Gastroenterology - Category: Gastroenterology Source Type: research
Publication date: Available online 15 April 2018 Source:Pharmacology & Therapeutics Author(s): Marina Baretti, Dung T. Le Microsatellite instability (MSI) refers to the hypermutator phenotype secondary to frequent polymorphism in short repetitive DNA sequences and single nucleotide substitution, as consequence of DNA mismatch repair (MMR) deficiency. MSI secondary to germline mutation in DNA MMR proteins is the molecular fingerprint of Lynch Syndrome (LS), while epigenetic inactivation of these genes is more commonly found in sporadic MSI tumors. MSI occurs at different frequencies across malignancies, although origin...
Source: Pharmacology and Therapeutics - Category: Drugs & Pharmacology Source Type: research
The Cancer Genome Atlas (TGCA) studies have defined the molecular genetic landscape of endometrial cancer and highlighted the molecular genetic diversity of both endometrioid and non-endometroid cancers [1]. The TCGA established four distinct endometrial cancer subclasses based on the extent of mutational load and somatic copy number alterations. The first molecular subclass of ultramutated cancers is characterised by mutations in the exonuclease domain of DNA polymerase epsilon (POLE), which has evoked substantial interest and specific research, as these cancers have an exceptionally good prognosis with very few recurrenc...
Source: Annals of Oncology - Category: Cancer & Oncology Source Type: research
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