• Mutation; HGNC; HGNC:11998; TP53; Simple; c.919+1G>A (IVS8+1G>A); ClinVar=VCV000633606; Zygosity=Unspecified; Note=Splice donor mutation (PubMed=15735012; PubMed=23613873).
  

PubMed=15735012; DOI=10.1158/0008-5472.CAN-04-3665
Hester J.T. van Zeeburg, Peter J.F. Snijders, Gerard Pals, Mario A.J.A. Hermsen, Martin A. Rooimans, Grover Bagby, Jean Soulier, Eliane Gluckman, Johan Wennerberg, C. Rene Leemans, Hans Joenje, Ruud H. Brakenhoff;
Generation and molecular characterization of head and neck squamous cell lines of Fanconi anemia patients.
Cancer Res. 65:1271-1276(2005)

PubMed=23613873; DOI=10.1371/journal.pone.0061555; PMCID=PMC3629194
Sanne R. Martens-de Kemp, Simone U. Dalm, Fiona M.J. Wijnolts, Arjen Brink, Richard J. Honeywell, Godefridus Johannes Peters, Boudewijn J.M. Braakhuis, Ruud H. Brakenhoff;
DNA-bound platinum is the major determinant of cisplatin sensitivity in head and neck squamous carcinoma cells.
PLoS ONE 8:e61555.1-e61555.9(2013)

PubMed=26122845; DOI=10.1158/0008-5472.CAN-15-0528
Chantal Stoepker, Najim Ameziane, Petra van der Lelij, Irsan E. Kooi, Anneke B. Oostra, Martin A. Rooimans, Saskia E. van Mil, Arjen Brink, Ralf Dietrich, Jesper A. Balk, Bauke Ylstra ...Show all 14 authors... , Hans Joenje, Stephan M. Feller, Ruud H. Brakenhoff; Show fewer authors
Defects in the Fanconi anemia pathway and chromatid cohesion in head and neck cancer.
Cancer Res. 75:3543-3553(2015)