BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

86 related articles for article (PubMed ID: 22232082)

  • 1. Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation.
    Shamseldin HE; Elfaki M; Alkuraya FS
    J Med Genet; 2012 Mar; 49(3):184-6. PubMed ID: 22232082
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.
    Zagnoli-Vieira G; Brazina J; Van Den Bogaert K; Huybrechts W; Molenaers G; Caldecott KW; Van Esch H
    Hum Genet; 2023 Sep; 142(9):1417-1427. PubMed ID: 37558815
    [TBL] [Abstract][Full Text] [Related]  

  • 3. SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.
    Zemet R; Du H; Gambin T; Lupski JR; Liu P; Stankiewicz P
    Hum Genet; 2023 Jun; 142(6):721-733. PubMed ID: 37031326
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole-exome sequencing identifies functional classes of gene mutations associated with bone marrow failure in pediatric Fanconi Anemia patients.
    Wang S; Zbib NH; Skaist A; Gui J; Madero-Marroquin R; De Marchi F; Gondek LP; Matsui W; Lau BW
    Eur J Haematol; 2021 Aug; 107(2):293-294. PubMed ID: 33960532
    [No Abstract]   [Full Text] [Related]  

  • 5. Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene.
    Park JY; Virts EL; Jankowska A; Wiek C; Othman M; Chakraborty SC; Vance GH; Alkuraya FS; Hanenberg H; Andreassen PR
    J Med Genet; 2016 Oct; 53(10):672-680. PubMed ID: 27208205
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Rare mutations in XRCC2 increase the risk of breast cancer.
    Park DJ; Lesueur F; Nguyen-Dumont T; Pertesi M; Odefrey F; Hammet F; Neuhausen SL; John EM; Andrulis IL; Terry MB; Daly M; Buys S; Le Calvez-Kelm F; Lonie A; Pope BJ; Tsimiklis H; Voegele C; Hilbers FM; Hoogerbrugge N; Barroso A; Osorio A; ; ; Giles GG; Devilee P; Benitez J; Hopper JL; Tavtigian SV; Goldgar DE; Southey MC
    Am J Hum Genet; 2012 Apr; 90(4):734-9. PubMed ID: 22464251
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetics of breast cancer: a topic in evolution.
    Shiovitz S; Korde LA
    Ann Oncol; 2015 Jul; 26(7):1291-9. PubMed ID: 25605744
    [TBL] [Abstract][Full Text] [Related]  

  • 8. An association between the -41657 C/T polymorphism of X-ray repair cross-complementing 2 (XRCC2) gene and ovarian cancer.
    Michalska MM; Samulak D; Smolarz B
    Med Oncol; 2014 Dec; 31(12):300. PubMed ID: 25355640
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
    Thompson BA; Greenblatt MS; Vallee MP; Herkert JC; Tessereau C; Young EL; Adzhubey IA; Li B; Bell R; Feng B; Mooney SD; Radivojac P; Sunyaev SR; Frebourg T; Hofstra RM; Sijmons RH; Boucher K; Thomas A; Goldgar DE; Spurdle AB; Tavtigian SV
    Hum Mutat; 2013 Jan; 34(1):255-65. PubMed ID: 22949387
    [TBL] [Abstract][Full Text] [Related]  

  • 10. OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
    Marston S; Montgiraud C; Munster AB; Copeland O; Choi O; Dos Remedios C; Messer AE; Ehler E; Knöll R
    PLoS One; 2015; 10(9):e0138568. PubMed ID: 26406308
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.
    Bottillo I; D'Angelantonio D; Caputo V; Paiardini A; Lipari M; De Bernardo C; Giannarelli D; Pizzuti A; Majore S; Castori M; Zachara E; Re F; Grammatico P
    Gene; 2016 Feb; 577(2):227-35. PubMed ID: 26656175
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
    Couch FJ; Hart SN; Sharma P; Toland AE; Wang X; Miron P; Olson JE; Godwin AK; Pankratz VS; Olswold C; Slettedahl S; Hallberg E; Guidugli L; Davila JI; Beckmann MW; Janni W; Rack B; Ekici AB; Slamon DJ; Konstantopoulou I; Fostira F; Vratimos A; Fountzilas G; Pelttari LM; Tapper WJ; Durcan L; Cross SS; Pilarski R; Shapiro CL; Klemp J; Yao S; Garber J; Cox A; Brauch H; Ambrosone C; Nevanlinna H; Yannoukakos D; Slager SL; Vachon CM; Eccles DM; Fasching PA
    J Clin Oncol; 2015 Feb; 33(4):304-11. PubMed ID: 25452441
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Impact of XRCC2 Arg188His polymorphism on cancer susceptibility: a meta-analysis.
    He Y; Zhang Y; Jin C; Deng X; Wei M; Wu Q; Yang T; Zhou Y; Wang Z
    PLoS One; 2014; 9(3):e91202. PubMed ID: 24621646
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
    Castéra L; Krieger S; Rousselin A; Legros A; Baumann JJ; Bruet O; Brault B; Fouillet R; Goardon N; Letac O; Baert-Desurmont S; Tinat J; Bera O; Dugast C; Berthet P; Polycarpe F; Layet V; Hardouin A; Frébourg T; Vaur D
    Eur J Hum Genet; 2014 Nov; 22(11):1305-13. PubMed ID: 24549055
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional assays for analysis of variants of uncertain significance in BRCA2.
    Guidugli L; Carreira A; Caputo SM; Ehlen A; Galli A; Monteiro AN; Neuhausen SL; Hansen TV; Couch FJ; Vreeswijk MP;
    Hum Mutat; 2014 Feb; 35(2):151-64. PubMed ID: 24323938
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Rare variants in XRCC2 as breast cancer susceptibility alleles.
    Hilbers FS; Wijnen JT; Hoogerbrugge N; Oosterwijk JC; Collee MJ; Peterlongo P; Radice P; Manoukian S; Feroce I; Capra F; Couch FJ; Wang X; Guidugli L; Offit K; Shah S; Campbell IG; Thompson ER; James PA; Trainer AH; Gracia J; Benitez J; van Asperen CJ; Devilee P
    J Med Genet; 2012 Oct; 49(10):618-20. PubMed ID: 23054243
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP.
    Schuster B; Knies K; Stoepker C; Velleuer E; Friedl R; Gottwald-Mühlhauser B; de Winter JP; Schindler D
    Hum Mutat; 2013 Jan; 34(1):93-6. PubMed ID: 23033263
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions.
    Solyom S; Aressy B; Pylkäs K; Patterson-Fortin J; Hartikainen JM; Kallioniemi A; Kauppila S; Nikkilä J; Kosma VM; Mannermaa A; Greenberg RA; Winqvist R
    Sci Transl Med; 2012 Feb; 4(122):122ra23. PubMed ID: 22357538
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A minimal Fanconi Anemia complex in early diverging fungi.
    Barua D; Płecha M; Muszewska A
    Sci Rep; 2024 Apr; 14(1):9922. PubMed ID: 38688950
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 5.