Gene family
Gene Function Freq. in NGS Epithelial mouse model genotype Tumour type Reference
p53 family TP53 Tumour suppressor involved in apoptosis, activates DNA repair proteins, cell cycle regulation at G1/S checkpoint 50 - 78% p53-/- or mutant p53 mice with chemical carcinogens or mutant KRAS Various HNSCC Acin, Raimondi [35,36]
TP63 Involved in development and regulation of apoptosis 8% Not described - n/a
Nesprins SYNE1,2 Found in the outer nuclear membrane and bind to actin filaments 24% Not described - n/a
Notch NOTCH1,2,3 Transmembrane proteins that are involved in development by controlling cell fate decisions by regulating interactions between adjacent cells. 22% NOTCH1-/- Basel Cell Carcinoma Nicolas [74], Agrawal [21]
HPV Oncogenes E6 Degrades p53 through ubiquitination 15% HPV-E6/E7 with chemical carcinogens or mutant Hras Papillomas of the lip Schreiber [51]
E7 Binds pRb to free the transcription factor E2F
PI3K/AKT/mTOR PIK3CA Oncogene 8% Not described - n/a
PTEN Tumor suppressor that regulates AKT 8% myrAKT PTEN-/- Dysplastic lesions in the palate, cheeks, and lips Bian, Moral [80,82]
TGF-β pathway TGF-β Regulates proliferation and differentiation, angiogenesis, and serves as an immune modulator Not described TGFBR1-/- OCC, ears, periorbital, perianal Bian [81]
SMAD4 Downstream transcription factor that activates apoptosis Not described SMAD4-/- OCC, lymph node mets Bornstein [83]
TGFB2 Encodes transmembrane Ser/Thr protein kinase that is activated by TGF-β, amongst other signalling molecules Not described Not described - Lu [82]
RASSF1A Tumour suppressor involved in DNA repair and cell cycle arrest; negative regulator of RAS Not described G12D mutant KRAS Benign squamous papillomas of oral mucosa, tongue and palate Caulin [67]
EGFR Epidermal growth factor receptor; downstream mediator of RAS Not described Not described - n/a
Cyclins Cyclin D1 Promotes cellular proliferation by enabling cells to enter S phase and synthesize DNA in preparation for cell division Not described L2-CyclinD1 Hyperplasia of tongue, oesophagus Mueller [76], Nakagawa [77]
Pocket protein family RB1 Tumour suppressor that inhibits cell cycle (G1/S) and is involved in chromatin remodelling 3% pRb/p107-deficient pRB/p130-deficient Head and neck Squamous cell carcinomas Shin [56]
RBL1 Gene product p107 is a tumour suppressor involved in cell cycle regulation pRb/p107-deficient Head and neck Squamous cell carcinomas Shin [56]
NOLC1 Gene product is p130, unclear function pRb/p130-deficient Head and neck Squamous cell carcinomas Shin [56]
Interferon regulator
transcription factor family
IRF6 Involved in the formation of connective tissues Not described Not described - n/a
F-box protein family FBXW7 Binds to cyclin E and targets it for ubiquitination to prevent progression from G1 to S phase Not described Not described - n/a
RIPK4 Serine/threonine protein kinase that interacts with PKC-δ and can also activate NFkappaB. 3% Not described - n/a
DICER1 RNA helicase that functions as a ribonuclease in RNA interference and microRNA pathways to repress gene expression 3% Not described - n/a

NGS = next generation sequencing.