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    PMS2 PMS1 homolog 2, mismatch repair system component [ Homo sapiens (human) ]

    Gene ID: 5395, updated on 3-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    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
    The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.

    The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.
    Ten Broeke SW, Rodríguez-Girondo M, Suerink M, Aretz S, Bernstein I, Capellá G, Engel C, Gomez-Garcia EB, van Hest LP, von Knebel Doeberitz M, Lagerstedt-Robinson K, Letteboer TGW, Moller P, van Os TA, Pineda M, Rahner N, Olderode-Berends MJW, von Salomé J, Schackert HK, Spruijt L, Steinke-Lange V, Wagner A, Tops CMJ, Nielsen M.

    08/13/2020
    Data show that PMS2 expression decrease causes severe problems in mismatch repair, which is the hallmark of Lynch syndrome susceptibility genes.

    PMS2 expression decrease causes severe problems in mismatch repair.
    Kasela M, Nyström M, Kansikas M., Free PMC Article

    03/21/2020
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