BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

201 related articles for article (PubMed ID: 30653781)

  • 1. Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene.
    D'Arcy BM; Blount J; Prakash A
    Hum Mutat; 2019 Apr; 40(4):458-471. PubMed ID: 30653781
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The changing landscape of Lynch syndrome due to PMS2 mutations.
    Blount J; Prakash A
    Clin Genet; 2018 Jul; 94(1):61-69. PubMed ID: 29286535
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Lessons learnt from implementation of a Lynch syndrome screening program for patients with gynaecological malignancy.
    Najdawi F; Crook A; Maidens J; McEvoy C; Fellowes A; Pickett J; Ho M; Nevell D; McIlroy K; Sheen A; Sioson L; Ahadi M; Turchini J; Clarkson A; Hogg R; Valmadre S; Gard G; Dooley SJ; Scott RJ; Fox SB; Field M; Gill AJ
    Pathology; 2017 Aug; 49(5):457-464. PubMed ID: 28669579
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
    Carneiro da Silva F; Ferreira JR; Torrezan GT; Figueiredo MC; Santos ÉM; Nakagawa WT; Brianese RC; Petrolini de Oliveira L; Begnani MD; Aguiar-Junior S; Rossi BM; Ferreira Fde O; Carraro DM
    PLoS One; 2015; 10(10):e0139753. PubMed ID: 26437257
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Detection of
    Okkels H; Lagerstedt-Robinsson K; Wikman FP; Hansen TVO; Lolas I; Lindberg LJ; Krarup HB
    Genet Test Mol Biomarkers; 2019 Sep; 23(9):688-695. PubMed ID: 31433215
    [No Abstract]   [Full Text] [Related]  

  • 6. Universal screening for Lynch syndrome in endometrial cancers: frequency of germline mutations and identification of patients with Lynch-like syndrome.
    Dillon JL; Gonzalez JL; DeMars L; Bloch KJ; Tafe LJ
    Hum Pathol; 2017 Dec; 70():121-128. PubMed ID: 29107668
    [TBL] [Abstract][Full Text] [Related]  

  • 7. PMS2 expression decrease causes severe problems in mismatch repair.
    Kasela M; Nyström M; Kansikas M
    Hum Mutat; 2019 Jul; 40(7):904-907. PubMed ID: 30946512
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Isolated Loss of PMS2 Immunohistochemical Expression is Frequently Caused by Heterogenous MLH1 Promoter Hypermethylation in Lynch Syndrome Screening for Endometrial Cancer Patients.
    Kato A; Sato N; Sugawara T; Takahashi K; Kito M; Makino K; Sato T; Shimizu D; Shirasawa H; Miura H; Sato W; Kumazawa Y; Sato A; Kumagai J; Terada Y
    Am J Surg Pathol; 2016 Jun; 40(6):770-6. PubMed ID: 26848797
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
    Lagerstedt-Robinson K; Rohlin A; Aravidis C; Melin B; Nordling M; Stenmark-Askmalm M; Lindblom A; Nilbert M
    Oncol Rep; 2016 Nov; 36(5):2823-2835. PubMed ID: 27601186
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
    van der Klift HM; Mensenkamp AR; Drost M; Bik EC; Vos YJ; Gille HJ; Redeker BE; Tiersma Y; Zonneveld JB; García EG; Letteboer TG; Olderode-Berends MJ; van Hest LP; van Os TA; Verhoef S; Wagner A; van Asperen CJ; Ten Broeke SW; Hes FJ; de Wind N; Nielsen M; Devilee P; Ligtenberg MJ; Wijnen JT; Tops CM
    Hum Mutat; 2016 Nov; 37(11):1162-1179. PubMed ID: 27435373
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
    Drost M; Koppejan H; de Wind N
    Hum Mutat; 2013 Nov; 34(11):1477-80. PubMed ID: 24027009
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2.
    Ten Broeke SW; van Bavel TC; Jansen AML; Gómez-García E; Hes FJ; van Hest LP; Letteboer TGW; Olderode-Berends MJW; Ruano D; Spruijt L; Suerink M; Tops CM; van Eijk R; Morreau H; van Wezel T; Nielsen M
    Gastroenterology; 2018 Sep; 155(3):844-851. PubMed ID: 29758216
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
    Borràs E; Pineda M; Cadiñanos J; Del Valle J; Brieger A; Hinrichsen I; Cabanillas R; Navarro M; Brunet J; Sanjuan X; Musulen E; van der Klift H; Lázaro C; Plotz G; Blanco I; Capellá G
    J Med Genet; 2013 Aug; 50(8):552-63. PubMed ID: 23709753
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pilot study of gene mutations associated with Lynch syndrome in Slovak patients with breast cancer.
    Krasničanová L; Saade R; Priščáková P; Gbelcová H; Kaľavská K; Karaba M; Benca J; Mego M; Repiská V
    Klin Onkol; 2023; 36(2):130-134. PubMed ID: 37072247
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.
    Arora S; Huwe PJ; Sikder R; Shah M; Browne AJ; Lesh R; Nicolas E; Deshpande S; Hall MJ; Dunbrack RL; Golemis EA
    Cancer Biol Ther; 2017 Jul; 18(7):519-533. PubMed ID: 28494185
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
    Baris HN; Barnes-Kedar I; Toledano H; Halpern M; Hershkovitz D; Lossos A; Lerer I; Peretz T; Kariv R; Cohen S; Half EE; Magal N; Drasinover V; Wimmer K; Goldberg Y; Bercovich D; Levi Z
    Pediatr Blood Cancer; 2016 Mar; 63(3):418-27. PubMed ID: 26544533
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.
    Shuen AY; Lanni S; Panigrahi GB; Edwards M; Yu L; Campbell BB; Mandel A; Zhang C; Zhukova N; Alharbi M; Bernstein M; Bowers DC; Carroll S; Cole KA; Constantini S; Crooks B; Dvir R; Farah R; Hijiya N; George B; Laetsch TW; Larouche V; Lindhorst S; Luiten RC; Magimairajan V; Mason G; Mason W; Mordechai O; Mushtaq N; Nicholas G; Oren M; Palma L; Pedroza LA; Ramdas J; Samuel D; Wolfe Schneider K; Seeley A; Semotiuk K; Shamvil A; Sumerauer D; Toledano H; Tomboc P; Wierman M; Van Damme A; Lee YY; Zapotocky M; Bouffet E; Durno C; Aronson M; Gallinger S; Foulkes WD; Malkin D; Tabori U; Pearson CE
    J Clin Oncol; 2019 Feb; 37(6):461-470. PubMed ID: 30608896
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Association of tumor morphology with mismatch-repair protein status in older endometrial cancer patients: implications for universal versus selective screening strategies for Lynch syndrome.
    Rabban JT; Calkins SM; Karnezis AN; Grenert JP; Blanco A; Crawford B; Chen LM
    Am J Surg Pathol; 2014 Jun; 38(6):793-800. PubMed ID: 24503759
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.
    González-Acosta M; Del Valle J; Navarro M; Thompson BA; Iglesias S; Sanjuan X; Paúles MJ; Padilla N; Fernández A; Cuesta R; Teulé À; Plotz G; Cadiñanos J; de la Cruz X; Balaguer F; Lázaro C; Pineda M; Capellá G
    Fam Cancer; 2017 Oct; 16(4):501-507. PubMed ID: 28365877
    [TBL] [Abstract][Full Text] [Related]  

  • 20. PMS2 germline mutation c.943C>T (p.Arg315*)-induced Lynch syndrome-associated ovarian cancer.
    Guo X; Wu W; Gao H; Li X; He Q; Zhu Y; Liu N
    Mol Genet Genomic Med; 2019 Jun; 7(6):e721. PubMed ID: 31056861
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.