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A Pan-Cancer Analysis on the Systematic Correlation of MutS Homolog 2 (MSH2) to a Malignant Tumor
J Oncol. 2022 Mar 24;2022:9175402. doi: 10.1155/2022/9175402. eCollection 2022.ABSTRACTMutS homolog 2 (MSH2) is a crucial participant in human DNA repair, and lots of the studies functionally associated with it were begun with hereditary nonpolyposis colorectal cancer (HNPCC). MSH2 has also been reported to take part in the progresses of various tumors' formation. With the help of GTEx, CCLE, and TCGA pan-cancer databases, the analysis of MSH2 gene distribution in both tumor tissues and normal control tissues was carried out. Kaplan-Meyer survival plots and COX regression analysis were conducted for the assessment into the...
Source: Journal of Oncology - April 4, 2022 Category: Cancer & Oncology Authors: Hai Yao Zhidong Cao Haochuan Yong Xiaoxing Zhang Xin Zhang Wei Li Shenshen Zhi Wenyan Wu Source Type: research

Genomic alterations in Turcot syndrome: Insights from whole exome sequencing
Turcot's syndrome (TS) was originally described as familial predisposition to cancer of the large bowel and brain [1], and is a phenotypic variant of Hereditary Non-Polyposis Colorectal Cancer (HNPCC). HNPCC is caused by germline mutations in one of the DNA mismatch-repair (MMR)-genes MLH1, PMS1, PMS2, MSH2, or MSH6. Identification of HNPCC is based upon clinicopathological features including MMR-deficiency determined by immunohistochemistry or microsatellite instability (MSI)-analysis. Lifetime brain tumor risk in HNPCC is 3%.
Source: Journal of the Neurological Sciences - July 23, 2020 Category: Neurology Authors: Philipp Karschnia, E. Zeynep Erson-Omay, Anita J. Huttner, Leon D. Kaulen, Daniel Duran, Robert K. Fulbright, Murat G ünel, Joachim M. Baehring Tags: Letter to the Editor Source Type: research

Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations.
Abstract Inherited mutations of the DNA Mismatch repair genes MLH1, MSH2, MSH6 and PMS2 can result in two hereditary tumor syndromes: the adult-onset autosomal dominant Lynch syndrome, previously referred to as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and the childhood-onset autosomal recessive Constitutional Mismatch Repair Deficiency syndrome. Both conditions are important to recognize clinically as their identification has direct consequences for clinical management and allows targeted preventive actions in mutation carriers. Lynch syndrome is one of the more common adult-onset hereditary tumor syndro...
Source: DNA Repair - December 11, 2015 Category: Genetics & Stem Cells Authors: Sijmons RH, Hofstra RM Tags: DNA Repair (Amst) Source Type: research