In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk. | In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk. Matoy EJ, Plowman JN, Watson CJ, Belshan MA, Blue EE, Huff CD, Stessman HAF., Free PMC Article | 07/24/2024 |
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency. | A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency. Marín F, Canet-Hermida J, Bianchi V, Chung J, Wimmer K, Foulkes W, Pérez-Alonso V, Domínguez-Pinilla N, Sábado C, Vázquez-Gómez F, Molinés A, Fioravantti V, Carrasco E, Stengs L, Edwards M, Negm L, Das A, Aronson M, Pastor Á, Rueda D, González-Granado LI, Tabori U, Capellá G, Pineda M. | 05/6/2024 |
Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup. | Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup. Gass M, Seebauer B, Thommen A, Fischler A, Heinimann K., Free PMC Article | 03/1/2024 |
PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene. | PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene. Bouras A, Lefol C, Ruano E, Grand-Masson C, Wang Q. | 01/4/2024 |
Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk. | Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk. Bryant P, Walton Bernstedt S, Thutkawkorapin J, Backman AS, Lindblom A, Lagerstedt-Robinson K. | 02/11/2023 |
Diabetes mellitus impacts on expression of DNA mismatch repair protein PMS2 and tumor microenvironment in pancreatic ductal adenocarcinoma. | Diabetes mellitus impacts on expression of DNA mismatch repair protein PMS2 and tumor microenvironment in pancreatic ductal adenocarcinoma. Pan X, Mizukami H, Hara Y, Yamada T, Yamazaki K, Kudoh K, Takeuchi Y, Sasaki T, Kushibiki H, Igawa A, Hakamada K., Free PMC Article | 01/7/2023 |
Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study. | Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study. Boumehdi AL, Cherbal F, Khider F, Oukkal M, Mahfouf H, Zebboudj F, Maaoui M. | 10/29/2022 |
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome. | Predictive functional assay-based classification of PMS2 variants in Lynch syndrome. Rayner E, Tiersma Y, Fortuno C, van Hees-Stuivenberg S, Drost M, Thompson B, Spurdle AB, de Wind N., Free PMC Article | 08/13/2022 |
Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome. | Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome. Liu YL, Cadoo KA, Maio A, Patel Z, Kemel Y, Salo-Mullen E, Catchings A, Ranganathan M, Kane S, Soslow R, Ceyhan-Birsoy O, Mandelker D, Carlo MI, Walsh MF, Shia J, Markowitz AJ, Offit K, Stadler ZK, Latham A., Free PMC Article | 06/11/2022 |
Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations with clinical data in rectal mucinous adenocarcinoma. | Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations with clinical data in rectal mucinous adenocarcinoma. Graur F, Puia A, Mois E, Pop P, Berar M, Elisei R, Zaharie F, Nechita V, Rusu I, Buiga R, Puia C, Al Hajjar N. | 05/7/2022 |
A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing. | A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing. Biswas K, Couillard M, Cavallone L, Burkett S, Stauffer S, Martin BK, Southon E, Reid S, Plona TM, Baugher RN, Mellott SD, Pike KM, Albaugh ME, Maedler-Kron C, Hamel N, Tessarollo L, Marcus V, Foulkes WD, Sharan SK., Free PMC Article | 01/29/2022 |
The coding microsatellite mutation profile of PMS2-deficient colorectal cancer. | The coding microsatellite mutation profile of PMS2-deficient colorectal cancer. Bajwa-Ten Broeke SW, Ballhausen A, Ahadova A, Suerink M, Bohaumilitzky L, Seidler F, Morreau H, van Wezel T, Krzykalla J, Benner A, de Miranda NF, von Knebel Doeberitz M, Nielsen M, Kloor M. | 12/25/2021 |
Alteration of DNA mismatch repair capacity underlying the co-occurrence of non-small-cell lung cancer and nonmedullary thyroid cancer. | Alteration of DNA mismatch repair capacity underlying the co-occurrence of non-small-cell lung cancer and nonmedullary thyroid cancer. Fujita S, Masago K., Free PMC Article | 11/13/2021 |
Clinicopathological, Immunohistochemical, and PMS2 Gene Expression Profiling of Patients with Sporadic Colorectal Cancer. | Clinicopathological, Immunohistochemical, and PMS2 Gene Expression Profiling of Patients with Sporadic Colorectal Cancer. Mousavi M, Goodarzi MT, Kassaee SM, Jafari Heidarloo A, Fathi M. | 10/23/2021 |
Associations Between Mutations in MSH6 and PMS2 and Risk of Surveillance-detected Colorectal Cancer. | Associations Between Mutations in MSH6 and PMS2 and Risk of Surveillance-detected Colorectal Cancer. Lamba M, Wakeman C, Ebel R, Hamilton S, Frampton C, Kiesanowski M, Griffiths B, Keating J, Parry S, Chalmers-Watson T. | 09/18/2021 |
PMS2: a potential prognostic protein marker in oral squamous cell carcinoma. | PMS2: a potential prognostic protein marker in oral squamous cell carcinoma. Decker JM, Filho OV, Freitas MO, Silva-Fernandes IJ, Dantas TS, Campêlo CS, Cunha MD, Silva PG, Sousa FB., Free PMC Article | 07/24/2021 |
Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL. | Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL. Chong AS, Chong G, Foulkes WD, Saskin A. | 07/24/2021 |
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome. | Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome. Wang Q, Leclerc J, Bougeard G, Olschwang S, Vasseur S, Cassinari K, Boidin D, Lefol C, Naïbo P, Frébourg T, Buisine MP, Baert-Desurmont S, French Consortium of Oncogenetic laboratories for colorectal cancers, Unicancer Cancer Genetic Group (GGC). | 06/26/2021 |
Genetic evidence for the involvement of mismatch repair proteins, PMS2 and MLH3, in a late step of homologous recombination. | Genetic evidence for the involvement of mismatch repair proteins, PMS2 and MLH3, in a late step of homologous recombination. Rahman MM, Mohiuddin M, Shamima Keka I, Yamada K, Tsuda M, Sasanuma H, Andreani J, Guerois R, Borde V, Charbonnier JB, Takeda S., Free PMC Article | 04/3/2021 |
Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics. | Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics. Morak M, Steinke-Lange V, Massdorf T, Benet-Pages A, Locher M, Laner A, Kayser K, Aretz S, Holinski-Feder E. | 02/27/2021 |
Prediction Model for Gastric Cancer With DNA Mismatch Repair Deficiency. | Prediction Model for Gastric Cancer With DNA Mismatch Repair Deficiency. Suzuki O, Yamaguchi T, Fukuchi M, Mochiki E, Arai T, Akagi K, Ishida H. | 02/6/2021 |
Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options. | Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options. Tlemsani C, Leroy K, Gimenez-Roqueplo AP, Mansuet-Lupo A, Pasmant E, Larousserie F, Boudou-Rouquette P, Vidaud M, Cadranel J, Blons H, Goldwasser F, Laurent-Puig P. | 02/6/2021 |
A Novel Germline MLH1 In-Frame Deletion in a Slovenian Lynch Syndrome Family Associated with Uncommon Isolated PMS2 Loss in Tumor Tissue. | A Novel Germline MLH1 In-Frame Deletion in a Slovenian Lynch Syndrome Family Associated with Uncommon Isolated PMS2 Loss in Tumor Tissue. Klančar G, Blatnik A, Šetrajčič Dragoš V, Vogrič V, Stegel V, Blatnik O, Drev P, Gazič B, Krajc M, Novaković S., Free PMC Article | 01/23/2021 |
Helicobacter pylori severely reduces expression of DNA repair proteins PMS2 and ERCC1 in gastritis and gastric cancer. | Helicobacter pylori severely reduces expression of DNA repair proteins PMS2 and ERCC1 in gastritis and gastric cancer. Raza Y, Ahmed A, Khan A, Chishti AA, Akhter SS, Mubarak M, Bernstein C, Zaitlin B, Kazmi SU. | 01/23/2021 |
p53, Cyclin-D1, beta-catenin, APC and c-myc in Tumor Tissue from Colorectal and Gastric Cancer Patients with Suspected Lynch Syndrome by the Bethesda Criteria. | p53, Cyclin-D1, β-catenin, APC and c-myc in Tumor Tissue from Colorectal and Gastric Cancer Patients with Suspected Lynch Syndrome by the Bethesda Criteria. Marcolino TF, Pimenta CAM, Artigiani Neto R, Castelo P, Silva MS, Forones NM, Oshima CTF., Free PMC Article | 11/28/2020 |