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MutS homolog 2, colon cancer, nonpolyposis type 1

MSH2, MutS Homolog 2
MSH2 was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: MLH1, MSH6, PMS2, HAD, AGE
Papers using MSH2 antibodies
Increased sensitivity of p53-deficient cells to anticancer agents due to loss of Pms2
Supplier
Li Hua Bin et al., In BMC Cancer, 2001
... MLH1, MSH2, and PSM2 antibody was obtained from BD Biosciences.
The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) – results of an international collaborative study
Supplier
Kam Lee Suk et al., In The Indian Journal of Medical Research, 2000
... No.550838) at 1/50 dilution, MSH2 antibody (BD Biosciences Pharmingen, USA, Cat ...
Papers on MSH2
Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.
New
Chen et al., Houston, United States. In Ann Oncol, Feb 2016
RESULTS: Of the 1000 patients who underwent sequencing, 43 had likely pathogenic germline variants: APC (1), BRCA1 (11), BRCA2 (10), TP53 (10), MSH2 (1), MSH6 (4), PALB2 (2), PTEN (2), TSC2 (1), and RB1 (1).
Aggressive Extraocular Sebaceous Carcinoma of the Scalp Involving the Brain in a Patient With Muir-Torre Syndrome.
New
Kacerovska et al., Plzeň, Czech Republic. In Am J Dermatopathol, Feb 2016
The diagnosis of Muir-Torre syndrome was confirmed by molecular genetic investigation that revealed an identical germline mutation in MSH2 gene in several family members, some of whom had colorectal tumors.
Ovarian cancer in Lynch syndrome; a systematic review.
Review
New
De Bock et al., Groningen, Netherlands. In Eur J Cancer, Feb 2016
Most frequent mutations were MSH2 (47%) and MLH1 (38%).
Interdependence of DNA mismatch repair proteins MLH1 and MSH2 in apoptosis in human colorectal carcinoma cell lines.
New
Ali et al., Little Rock, United States. In Mol Cell Biochem, Jan 2016
For instance, a germline mutation in one of the mismatch repair proteins, especially MLH1 or MSH2, is responsible for hereditary non-polyposis colorectal cancer.
Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.
New
Schlegelberger et al., Hannover, Germany. In Eur J Med Genet, Jan 2016
Causative mutations are found in DNA mismatch repair genes PMS2, MSH6, MSH2 or MLH1 that are well known in the context of Lynch syndrome.
Impact of Polymorphic Variations of Gemcitabine Metabolism, DNA Damage Repair, and Drug Resistance Genes on the Effect of High-Dose Chemotherapy for Relapsed or Refractory Lymphoid Malignancies.
New
Nieto et al., Houston, United States. In Biol Blood Marrow Transplant, Jan 2016
EXPERIMENTAL DESIGN: We evaluated 21 germline SNPs of the gemcitabine metabolism genes CDA, dCK, and hCNT3, DNA damage repair genes RECQL, XRCC1, RAD54L, ATM, ATR, MLH1, MSH2, MSH3, TREX1, EXO1, and TP73, and multidrug resistance genes MRP2 and MRP5, as well as glutathione-S-transferase GSTP1 in 153 patients with relapsed or refractory lymphoma or myeloma receiving Gem/Bu/Mel.
Disease-associated repeat instability and mismatch repair.
Review
New
Pearson et al., Toronto, Canada. In Dna Repair (amst), Jan 2016
Recent advances have broadened our knowledge of both the MMR proteins involved in disease repeat expansions, including: MSH2, MSH3, MSH6, MLH1, PMS2, and MLH3, as well as the types of repeats affected by MMR, now including: (CAG)·(CTG), (CGG)·(CCG), and (GAA)·(TTC) repeats.
Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations.
Review
New
Hofstra et al., Groningen, Netherlands. In Dna Repair (amst), Jan 2016
UNASSIGNED: 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.
Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study.
New
Impact
Mathers et al., Tehrān, Iran. In J Clin Oncol, Dec 2015
In subgroup analysis, obesity was associated with 3.72× (95% CI, 1.41 to 9.81) greater CRC risk in patients with LS with MLH1 mutation, but no excess risk was observed in those with MSH2 or MSH6 mutation (P = .5).
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
Review
New
Brugières et al., Villejuif, France. In J Med Genet, Nov 2015
PMS2 mutations (n=18) were more frequent than other mutations (MSH6 (n=6), MLH1 (n=4) and MSH2 (n=3)).
Genomics of Hereditary Colorectal Cancer: Lessons Learnt from 25 Years of the Singapore Polyposis Registry.
Review
New
Tang et al., Singapore, Singapore. In Ann Acad Med Singapore, Aug 2015
Pathogenic mutations were only confined to MLH1 and MSH2, and identified in 28.8% of families.
Short-term risk of colorectal cancer in individuals with lynch syndrome: a meta-analysis.
New
Impact
Win et al., Melbourne, Australia. In J Clin Oncol, Mar 2015
RESULTS: We pooled estimates from analyses of 1,114 Lynch syndrome families (508 with MLH1 mutations and 606 with MSH2 mutations).
Gut microbial metabolism drives transformation of MSH2-deficient colon epithelial cells.
Impact
Martin et al., Toronto, Canada. In Cell, 2014
We report that altering the microbiota composition reduces CRC in APC(Min/+)MSH2(-/-) mice, and that a diet reduced in carbohydrates phenocopies this effect.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Impact
InSiGHT et al., In Nat Genet, 2014
The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2.
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.
Impact
Spurdle et al., Adelaide, Australia. In J Clin Oncol, 2014
CONCLUSION: Population-level identification of patients with MMR mutation-positive endometrial cancer is optimized by stepwise testing for tumor MMR IHC loss in patients younger than 60 years, tumor MLH1 methylation in individuals with MLH1 IHC loss, and germline mutations in patients exhibiting loss of MSH6, MSH2, or PMS2 or loss of MLH1/PMS2 with absence of MLH1 methylation.
The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.
GeneRIF
Fishel et al., Santa Cruz de Tenerife, Spain. In Carcinogenesis, 2012
The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.
Ectopic expression of human MutS homologue 2 on renal carcinoma cells is induced by oxidative stress with interleukin-18 promotion via p38 mitogen-activated protein kinase (MAPK) and c-Jun N-terminal kinase (JNK) signaling pathways.
GeneRIF
He et al., Beijing, China. In J Biol Chem, 2012
Ectopic expression of human MutS homologue 2 on renal carcinoma cells is induced by oxidative stress with interleukin-18 promotion via p38 mitogen-activated protein kinase (MAPK) and c-Jun N-terminal kinase (JNK) signaling pathways.
Case-case study of factors associated to hMLH1, hMSH2, and hMSH6 protein expression among endometrial cancer patients of the University District Hospital of San Juan, Puerto Rico.
GeneRIF
Cruz-Correa et al., San Juan, Puerto Rico. In Int J Gynecol Cancer, 2012
Loss of hMSH2 is associated with endometrial cancer.
Ectopically expressed human tumor biomarker MutS homologue 2 is a novel endogenous ligand that is recognized by human γδ T cells to induce innate anti-tumor/virus immunity.
GeneRIF
He et al., Beijing, China. In J Biol Chem, 2012
Ectopically expressed human tumor biomarker MutS homologue 2 is a novel endogenous ligand that is recognized by human gammadelta T cells to induce innate anti-tumor/virus immunity.
Novel germline MLH1 and MSH2 mutations in Latvian Lynch syndrome families.
GeneRIF
Miklaševičs et al., Rīga, Latvia. In Exp Oncol, 2011
The mutations in the MLH1 and MSH2 genes in Latvian Lynch syndrome high-risk families are highly heterogeneous.
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