BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

222 related articles for article (PubMed ID: 34425783)

  • 1. Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report.
    Ando T; Nakajima T; Fukuda R; Nomura K; Niida Y; Sakumura M; Motoo I; Mihara H; Nanjo S; Kajiura S; Fujinami H; Hojo S; Fujii T; Yasuda I
    BMC Gastroenterol; 2021 Aug; 21(1):326. PubMed ID: 34425783
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD).
    Ramchander NC; Ryan NA; Crosbie EJ; Evans DG
    BMC Med Genet; 2017 Apr; 18(1):40. PubMed ID: 28381238
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.
    Levi Z; Kariv R; Barnes-Kedar I; Goldberg Y; Half E; Morgentern S; Eli B; Baris HN; Vilkin A; Belfer RG; Niv Y; Elhasid R; Dvir R; Abu-Freha N; Cohen S
    Clin Genet; 2015 Nov; 88(5):474-8. PubMed ID: 25307252
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots: A Case Report.
    Sağ E; Erkut M; Saygin İ; Çebi AH; Bahadir A; Erduran E; Saruhan H; Cakir M
    J Pediatr Hematol Oncol; 2020 Oct; 42(7):e689-e691. PubMed ID: 31599855
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
    Ercan AB; Aronson M; Fernandez NR; Chang Y; Levine A; Liu ZA; Negm L; Edwards M; Bianchi V; Stengs L; Chung J; Al-Battashi A; Reschke A; Lion A; Ahmad A; Lassaletta A; Reddy AT; Al-Darraji AF; Shah AC; Van Damme A; Bendel A; Rashid A; Margol AS; Kelly BL; Pencheva B; Heald B; Lemieux-Anglin B; Crooks B; Koschmann C; Gilpin C; Porter CC; Gass D; Samuel D; Ziegler DS; Blumenthal DT; Kuo DJ; Hamideh D; Basel D; Khuong-Quang DA; Stearns D; Opocher E; Carceller F; Baris Feldman H; Toledano H; Winer I; Scheers I; Fedorakova I; Su JM; Vengoechea J; Sterba J; Knipstein J; Hansford JR; Gonzales-Santos JR; Bhatia K; Bielamowicz KJ; Minhas K; Nichols KE; Cole KA; Penney L; Hjort MA; Sabel M; Gil-da-Costa MJ; Murray MJ; Miller M; Blundell ML; Massimino M; Al-Hussaini M; Al-Jadiry MF; Comito MA; Osborn M; Link MP; Zapotocky M; Ghalibafian M; Shaheen N; Mushtaq N; Waespe N; Hijiya N; Fuentes-Bolanos N; Ahmad O; Chamdine O; Roy P; Pichurin PN; Nyman P; Pearlman R; Auer RC; Sukumaran RK; Kebudi R; Dvir R; Raphael R; Elhasid R; McGee RB; Chami R; Noss R; Tanaka R; Raskin S; Sen S; Lindhorst S; Perreault S; Caspi S; Riaz S; Constantini S; Albert S; Chaleff S; Bielack S; Chiaravalli S; Cramer SL; Roy S; Cahn S; Penna S; Hamid SA; Ghafoor T; Imam U; Larouche V; Magimairajan Issai V; Foulkes WD; Lee YY; Nathan PC; Maruvka YE; Greer MC; Durno C; Shlien A; Ertl-Wagner B; Villani A; Malkin D; Hawkins C; Bouffet E; Das A; Tabori U
    Lancet Oncol; 2024 May; 25(5):668-682. PubMed ID: 38552658
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.
    Mork ME; Borras E; Taggart MW; Cuddy A; Bannon SA; You YN; Lynch PM; Ramirez PT; Rodriguez-Bigas MA; Vilar E
    Fam Cancer; 2016 Oct; 15(4):587-91. PubMed ID: 27017610
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Constitutional MMR deficiency: Genetic bases and clinical implications].
    Buecher B; Le Mentec M; Doz F; Bourdeaut F; Gauthier-Villars M; Stoppa-Lyonnet D; Colas C
    Bull Cancer; 2019 Feb; 106(2):162-172. PubMed ID: 30551794
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.
    Ripperger T; Schlegelberger B
    Eur J Med Genet; 2016 Mar; 59(3):133-42. PubMed ID: 26743104
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
    Bodo S; Colas C; Buhard O; Collura A; Tinat J; Lavoine N; Guilloux A; Chalastanis A; Lafitte P; Coulet F; Buisine MP; Ilencikova D; Ruiz-Ponte C; Kinzel M; Grandjouan S; Brems H; Lejeune S; Blanché H; Wang Q; Caron O; Cabaret O; Svrcek M; Vidaud D; Parfait B; Verloes A; Knappe UJ; Soubrier F; Mortemousque I; Leis A; Auclair-Perrossier J; Frébourg T; Fléjou JF; Entz-Werle N; Leclerc J; Malka D; Cohen-Haguenauer O; Goldberg Y; Gerdes AM; Fedhila F; Mathieu-Dramard M; Hamelin R; Wafaa B; Gauthier-Villars M; Bourdeaut F; Sheridan E; Vasen H; Brugières L; Wimmer K; Muleris M; Duval A;
    Gastroenterology; 2015 Oct; 149(4):1017-29.e3. PubMed ID: 26116798
    [TBL] [Abstract][Full Text] [Related]  

  • 10. High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
    González-Acosta M; Marín F; Puliafito B; Bonifaci N; Fernández A; Navarro M; Salvador H; Balaguer F; Iglesias S; Velasco A; Grau Garces E; Moreno V; Gonzalez-Granado LI; Guerra-García P; Ayala R; Florkin B; Kratz C; Ripperger T; Rosenbaum T; Januszkiewicz-Lewandowska D; Azizi AA; Ragab I; Nathrath M; Pander HJ; Lobitz S; Suerink M; Dahan K; Imschweiler T; Demirsoy U; Brunet J; Lázaro C; Rueda D; Wimmer K; Capellá G; Pineda M
    J Med Genet; 2020 Apr; 57(4):269-273. PubMed ID: 31494577
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report.
    Hizuka K; Hagiwara SI; Maeyama T; Honma H; Kawai M; Akagi K; Yasuhara M; Tomita N; Etani Y
    BMC Gastroenterol; 2021 Feb; 21(1):60. PubMed ID: 33568103
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.
    Bush L; Aronson M; Tabori U; Campbell BB; Bedgood RB; Jasperson K
    Fam Cancer; 2019 Jan; 18(1):105-108. PubMed ID: 29785566
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD).
    Leenders EKSM; Westdorp H; Brüggemann RJ; Loeffen J; Kratz C; Burn J; Hoogerbrugge N; Jongmans MCJ
    Eur J Hum Genet; 2018 Oct; 26(10):1417-1423. PubMed ID: 29904176
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
    Bakry D; Aronson M; Durno C; Rimawi H; Farah R; Alharbi QK; Alharbi M; Shamvil A; Ben-Shachar S; Mistry M; Constantini S; Dvir R; Qaddoumi I; Gallinger S; Lerner-Ellis J; Pollett A; Stephens D; Kelies S; Chao E; Malkin D; Bouffet E; Hawkins C; Tabori U
    Eur J Cancer; 2014 Mar; 50(5):987-96. PubMed ID: 24440087
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnosis and Management of Constitutional Mismatch Repair Deficiency Syndrome.
    Winter K; Tan M; Briscoe E; Hyde A; Daniel Stanley J
    Am Surg; 2023 Sep; 89(9):3953-3955. PubMed ID: 37260094
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
    Gallon R; Phelps R; Hayes C; Brugieres L; Guerrini-Rousseau L; Colas C; Muleris M; Ryan NAJ; Evans DG; Grice H; Jessop E; Kunzemann-Martinez A; Marshall L; Schamschula E; Oberhuber K; Azizi AA; Baris Feldman H; Beilken A; Brauer N; Brozou T; Dahan K; Demirsoy U; Florkin B; Foulkes W; Januszkiewicz-Lewandowska D; Jones KJ; Kratz CP; Lobitz S; Meade J; Nathrath M; Pander HJ; Perne C; Ragab I; Ripperger T; Rosenbaum T; Rueda D; Sarosiek T; Sehested A; Spier I; Suerink M; Zimmermann SY; Zschocke J; Borthwick GM; Wimmer K; Burn J; Jackson MS; Santibanez-Koref M
    Gastroenterology; 2023 Apr; 164(4):579-592.e8. PubMed ID: 36586540
    [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. Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I.
    Urganci N; Genc DB; Kose G; Onal Z; Vidin OO
    Pediatrics; 2015 Oct; 136(4):e1047-50. PubMed ID: 26391938
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
    Gallon R; Mühlegger B; Wenzel SS; Sheth H; Hayes C; Aretz S; Dahan K; Foulkes W; Kratz CP; Ripperger T; Azizi AA; Baris Feldman H; Chong AL; Demirsoy U; Florkin B; Imschweiler T; Januszkiewicz-Lewandowska D; Lobitz S; Nathrath M; Pander HJ; Perez-Alonso V; Perne C; Ragab I; Rosenbaum T; Rueda D; Seidel MG; Suerink M; Taeubner J; Zimmermann SY; Zschocke J; Borthwick GM; Burn J; Jackson MS; Santibanez-Koref M; Wimmer K
    Hum Mutat; 2019 May; 40(5):649-655. PubMed ID: 30740824
    [TBL] [Abstract][Full Text] [Related]  

  • 20. An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report.
    Daou B; Zanello M; Varlet P; Brugieres L; Jabbour P; Caron O; Lavoine N; Dhermain F; Willekens C; Beuvon F; Malka D; Lechapt-Zalcmann E; Abi Lahoud G
    Neurosurgery; 2015 Jul; 77(1):E145-52; discussion E152. PubMed ID: 25850602
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.