Gene: PMS2

Alternate names for this Gene: HNPCC4|MLH4|MMRCS4|PMS2CL|PMSL2

Gene Summary: The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome.

Gene is located in Chromosome: 7

Location in Chromosome : 7p22.1

Description of this Gene: PMS1 homolog 2, mismatch repair system component

Type of Gene: protein-coding

Gene: AIMP2

Alternate names for this Gene: HLD17|JTV-1|JTV1|P38

Gene Summary: The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex.

Gene is located in Chromosome: 7

Location in Chromosome : 7p22.1

Description of this Gene: aminoacyl tRNA synthetase complex interacting multifunctional protein 2

Type of Gene: protein-coding

rs587779333 in PMS2;AIMP2 gene and COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

PMID 23012243 2013 The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.

PMID 20487569 2010 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

PMID 22577899 2013 Recurrent and founder mutations in the PMS2 gene.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

rs587779333 in PMS2;AIMP2 gene and Colorectal cancer, hereditary nonpolyposis, type 1 PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

PMID 20487569 2010 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

rs587779333 in PMS2;AIMP2 gene and Hereditary Nonpolyposis Colorectal Cancer PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

PMID 20487569 2010 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

PMID 22577899 2013 Recurrent and founder mutations in the PMS2 gene.

PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 23012243 2013 The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.

PMID 27064304 2016 Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

rs587779333 in PMS2;AIMP2 gene and Hereditary Nonpolyposis Colorectal Neoplasms PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 27476653 2016 Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

PMID 20487569 2010 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

PMID 25559809 2015 Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

PMID 24130102 2014 About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.

rs1554309086 in PMS2;AIMP2 gene and Neoplastic Syndromes, Hereditary PMID 27742654 2017 Practical guidance for mismatch repair-deficiency testing in endometrial cancer.

PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 27064304 2016 Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

PMID 23012243 2013 The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.

PMID 22577899 2013 Recurrent and founder mutations in the PMS2 gene.

PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

PMID 20487569 2010 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.