Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer

References

• Duraturo F, Liccardo R, De Rosa M, Izzo P. Genetics, diagnosis and treatment of Lynch syndrome: old lessons and current challenges (Review). Oncol Letters. 2019;17(3):3048–3054.
   PubMed Web of Science ®Google Scholar
• Vasen HFA, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116:1453–1456.10348829
   PubMed Web of Science ®Google Scholar
• Boland CR, Thibodeau SN, Hamilton SR, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1998;58:5248–5257.9823339
   PubMed Web of Science ®Google Scholar
• Duraturo F, Izzo P. Detection analysis of microsatellite instability status for the diagnosis and therapy of Lynch syndrome-related cancers. Biochim Clin. 2018;42(2):152–154.
   Web of Science ®Google Scholar
• Rasmussen LJ, Heinen CD, Royer-Pokora B, et al. Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future. Hum Mutat. 2012;33(12):1617–1625. doi:10.1002/humu.2216822833534
   PubMed Web of Science ®Google Scholar
• Duraturo F, Liccardo R, Cavallo A, De Rosa M, Rossi GB, Izzo P. Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability. Int J Mol Med. 2015;36:511–517. doi:10.3892/ijmm.2015.225526096739
   PubMed Web of Science ®Google Scholar
• Liccardo R, De Rosa M, Rossi GB, Rigler G, Izzo P, Duraturo F. Characterization of novel, large duplications in the MSH2 gene of three unrelated Lynch syndrome patients. Cancer Genet. 2018;221:19–24. doi:10.1016/j.cancergen.2017.11.00829405992
   PubMed Web of Science ®Google Scholar
• Duraturo F, Liccardo R, Cavallo A, De Rosa M, Grosso M, Izzo P. Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: probability of synergistic effects. Int J Cancer. 2011;129:1643–1650. doi:10.1002/ijc.2582421128252
   PubMed Web of Science ®Google Scholar
• Liccardo R, De Rosa M, Rossi GB, Carlomagno N, Izzo P, Duraturo F. Incomplete segregation of MSH6 frameshift variants with phenotype of Lynch syndrome. Int J Mol Sci. 2017;18(5). doi:10.3390/ijms18050999
   PubMed Web of Science ®Google Scholar
• Duraturo F, Liccardo R, Izzo P. Coexistence of MLH3 germline variants in colon cancer patients belonging to families with Lynch syndrome-associated brain tumors. J Neurooncol. 2016;129:577–578. doi:10.1007/s11060-016-2203-027401157
   PubMed Web of Science ®Google Scholar
• Thompson E, Meldrum CJ, Crooks R, et al. Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. Clin Genet. 2004;65(3):215–225.14756672
   PubMed Web of Science ®Google Scholar
• Hegan DC, Narayanan L, Jirik FR, Edelmann W, Liskay RM, Glazer PM. Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6. Carcinogenesis. 2006;27(12):2402–2408. doi:10.1093/carcin/bgl07916728433
   PubMed Web of Science ®Google Scholar
• Chen PC, Dudley S, Hagen W, et al. Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse. Cancer Res. 2005;65(19):8662–8670. doi:10.1158/0008-5472.CAN-05-074216204034
   PubMed Web of Science ®Google Scholar
• Marinovic-Terzic I, Yoshioka-Yamashita A, Shimodaira H, et al. Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20Q. Proc Natl Acad Sci U S A. 2008;105(37):13993–13998. doi:10.1073/pnas.080643510518768816
   PubMed Web of Science ®Google Scholar
• Haraldsdottir S, Rafnar T, Frankel WL, et al. Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. Nat Commun. 2017;8:14755. doi:10.1038/ncomms1475528466842
   PubMed Web of Science ®Google Scholar
• Carethers JM, Stoffel EM. Lynch syndrome and Lynch syndrome mimics: the growing complex landscape of hereditary colon cancer. World J Gastroenterol. 2015;21(31):9253–9261. doi:10.3748/wjg.v21.i31.925326309352
   PubMed Web of Science ®Google Scholar
• van der Klift HM, Mensenkamp AR, Drost M, et al. Comprehensive mutation analysis of PMS2 in a large cohort of probands suspected of Lynch syndrome or Constitutional Mismatch Repair Deficiency Syndrome. Hum Mutat. 2016;37(11):1162–1179. doi:10.1002/humu.2305227435373
   PubMed Web of Science ®Google Scholar
• van der Klift H, Wijnen J, Wagner A, et al. Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Genes Chromosomes Cancer. 2005;44(2):123–138. doi:10.1002/gcc.2021915942939
   PubMed Web of Science ®Google Scholar
• Lo Monte AI, Cudia B, Liccardo R, Izzo P, Duraturo F. Involvement of large rearrangements in MSH6 and PMS2 genes in southern Italian patients with Lynch syndrome. EurJ Oncol. 2018;23(1):47–51.
   Google Scholar
• Blount J, Prakash A. The changing landscape of Lynch syndrome due to PMS2 mutations. Clin Genet. 2018;94(1):61–69. doi:10.1111/cge.1320529286535
   PubMed Web of Science ®Google Scholar
• Herkert JC, Niessen RC, Olderode-Berends MJ, et al. Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. Eur J Cancer. 2011;47(7):965–982. Epub 2011 Mar 4. Review. doi:10.1016/j.ejca.2011.01.01321376568
   PubMed Web of Science ®Google Scholar
• Stark Z, Campbell LJ, Mitchell C, et al. Clinical problem-solving. Spot diagnosis. N Engl J Med. 2014;370(23):2229–2236. doi:10.1056/NEJMcps130266124897087
   PubMedGoogle Scholar
• Bougeard G, Olivier-Faivre L, Baert-Desurmont S, et al. Diversity of the clinical presentation of the MMR gene biallelic mutations. Fam Cancer. 2014;13(1):131–135. doi:10.1007/s10689-013-9676-124068316
   PubMed Web of Science ®Google Scholar
• Hendriks YM, Jagmohan-Changur S, van der Klift HM, et al. Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology. 2006;130(2):312–32216472587
   PubMed Web of Science ®Google Scholar
• Nicolaides NC, Papadopoulos N, Liu B, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature. 1994;371(6492):75–808072530
   PubMed Web of Science ®Google Scholar
• Viel A, Novella E, Genuardi M, et al. Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer. Int J Oncol. 1998;13(3):565–5699683794
   PubMed Web of Science ®Google Scholar
• Wang Q, Lasset C, Desseigne F, et al. Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. Hum Genet. 1999;105(1–2):79–8510480359
   PubMed Web of Science ®Google Scholar