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PMS2Postmeiotic Segregation Increased, S. Cerevisiae, 2
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coli); MSH2, DNA mismatch repair protein Msh2; MSH6, mutS homolog 6; PMS2, Mismatch repair endonuclease PMS2; EPCAM, epithelial cell adhesion molecule.
12] The molecular pathogenesis of these inherited tumours is related to defects in the genes encoding the DNA mismatch repair proteins MLH1, MSH2, MSH6 and PMS2.
Mutations in the four MMR genes, MSH2, MLH1, MSH6, and PMS2, commonly result in MSI.
The current NeoGenomics offering includes individual gene testing of BRCA1, BRCA2, MLH1, MSH2, EPCAM, MSH6, PMS2 genes as well as a comprehensive 73 gene panel that includes the following genes: AKT1, APC, ATM, ATR, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, DKN2A, CEBPA, CHEK1, CHEK2, CTNNA1, EPCAM, ETV6, FAM175A, GALNT12, GATA2, GEN1, GREM1, HOXB13, KLLN, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH8, MYH9, MYH10, MYH11, MYH13, MYH14, MYH15, NBN, NTRK1, PALB2, PIK3CA, PMS2, POLD1, POLE, PPM1D, PRSS1, PTEN, RAD50, RAD51, RAD51C, RAD51D, RET, RUNX1, SDHB, SDHC, SDHD, SMAD4, STK11, TERC, TERT, TP53, TP53BP1, VHL, WT1, XRCC2.
The frequency of mutations in MMR genes for EC is 50%-66% in MSH2, 24%-40% in MLH1, 10%-13% in MSH6, and <5% in PMS2 (10).
Lynch syndrome is attributed to germline mutations in mismatch-repair genes--MLH1 (mutL homolog 1), MSH2 (mutS homolog 2), MSH6 (mutS homolog 6), PMS2 [PMS2 postmeiotic segregation increased 2 (S.
5,13) Loss of 1 or more of these genes has been reported in 47% of the tested cases, most frequently, MLH1 and PMS2.
In families with HNPCC, 214 different germline mutations have been described to date by direct sequence analysis: 127 mutations were located in the MLH1 gene and 81 in the MSH2 gene, whereas only 6 mutations were detected in the MSH6, the PMS1, or the PMS2 gene (9).
Most of these previous studies have assessed microsatellite instability by polymerase chain reaction (PCR) amplification of loci containing microsatellites rather than by evaluating the expression of the mismatch repair proteins MLH1 (mutL homolog 1), MSH2 (mutS homolog 2), MSH6 (mutS homolog 6), and PMS2 (postmeiotic segregation increased 2).
Germline mutations in MSH6 and PMS2 occur in about 10% of families with LS, (29,30) but a role for germline mutations in MLH3 in LS is still debated.
93) Germline mutations of mismatch repair genes, including MLH1, MSH2, PMS1, PMS2, and MSH6, are associated with HNPCC.
4) A second heterodimeric complex of MLH1 and PMS2 is then recruited, which subsequently directs the remainder of the MMR machinery to excise the mismatched nucleotides.