• 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
van Zeeburg H.J.T., Snijders P.J.F., Pals G., Hermsen M.A.J.A., Rooimans M.A., Bagby G., Soulier J., Gluckman E., Wennerberg J., Leemans C.R., Joenje H., Brakenhoff R.H.
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
Martens-de Kemp S.R., Dalm S.U., Wijnolts F.M.J., Brink A., Honeywell R.J., Peters G.J., Braakhuis B.J.M., Brakenhoff R.H.
DNA-bound platinum is the major determinant of cisplatin sensitivity in head and neck squamous carcinoma cells.
PLoS ONE 8:E61555-E61555(2013)

PubMed=26122845; DOI=10.1158/0008-5472.CAN-15-0528
Stoepker C., Ameziane N., van der Lelij P., Kooi I.E., Oostra A.B., Rooimans M.A., van Mil S.E., Brink A., Dietrich R., Balk J.A., Ylstra B., Joenje H., Feller S.M., Brakenhoff R.H.
Defects in the Fanconi anemia pathway and chromatid cohesion in head and neck cancer.
Cancer Res. 75:3543-3553(2015)