Table 1 Summary of the genetic mutations in the familial OSCCs
From: Identification of novel genetic variants predisposing to familial oral squamous cell carcinomas
Gene | Genomic position | Transcript ID | Nucleotide mutation | Amino acid change | Protein domain | Sanger sequence confirmation | Gene description |
|---|---|---|---|---|---|---|---|
IQGAP1 | Chr15:90996413 | ENST00000268182.5 | c.1376 C>T | p.Ser459Leu | IR-WW domain | Yes | IQ motif containing GTPase activating protein 1 |
VAV2 | Chr9:136629207 | ENST00000371850.3 | c.2614 G>A | p.Val872Ile | SH3 domain | Yes | Vav guanine nucleotide exchange factor 2 |
DCN | Chr12:91552082 | ENST00000052754.5 | c.529 A>T | p.Ile177Phe | LRR 5 | Yes | Decorin |
TBC1D10C | Chr11:67176983 | ENST00000312390.5 | c.1099 C>T | p.Arg367Cys | None | Yes | TBC1 domain family member 10C |
PCDHGC5 | Chr5:140869229 | ENST00000252087.1 | c.422 G >A | p.Arg141His | Cadherin 2 domain | Yes | Protocadherin gamma subfamily C, 5 |
SLC7A8 | Chr14:23598870 | ENST00000316902.7 | c.1252 C>T | p.Arg418Cys | None | Yes | Solute carrier family 7 member 8 |
SLC14A2 | Chr18:43247837 | ENST00000255226.6 | c.1757G>A | p.Arg586Gln | None | Yes | Solute carrier family 14 member 2 |
KIAA0556 | Chr16:27642442 | ENST00000261588.4 | c.367 C>T | p.Arg123Trp | None | Yes | – |
PYROXD2 | Chr10:100167689 | ENST00000370575.4 | c.212delG | p.Gly71fs | FAD dependent oxidoreductase | Yes | Pyridine nucleotide-disulfide oxidoreductase domain 2 |
