Table 4. Hereditary Syndromes Associated with Squamous Cell Carcinoma of the Skin
| Condition | Gene(s) | Clinical Testing Availabilitya | Pathway |
| aFor more information on genetic testing laboratories, see GeneTests: Laboratory Directory. | |||
| Xeroderma pigmentosum (complementation group A, group B, group C, group D, group E, group F, and group G) | XPA , XPB/ERCC3, XPC, XPD/ERCC2, XPE/DDB2 , XPF/ERCC4, XPG/ERCC5 | XPA, XPC | Nucleotide excision repair |
| Xeroderma pigmentosum variant | POLH (XP-V) | No | Error-prone polymerase |
| Multiple self-healing squamous epithelioma (Ferguson-Smith syndrome) | TGFBR1 | No | Growth factor signalling |
| Oculocutaneous albinism (type IA, type IB, type II, type III, and type IV) | TYR , OCA2, MATP/OCA4, TYRP1 | TYR, OCA2, TYRP1 | Melanin synthesis |
| Hermansky-Pudlak syndrome | HPS1 , HPS3, HPS4, HPS5, HPS6, HPS7/DTNBP1, HPS8/BLOC1S3 | HPS1, HPS3, HPS4, HPS7 | Melanosomal and lysosomal storage |
| Hermansky-Pudlak syndrome, Type 2 | AP3B1 | No | Melanosomal and lysosomal storage |
| Chediak-Higashi syndrome | LYST | LYST | Lysosomal transport regulation |
| Griscelli syndrome (type 1, type 2, and type 3) | MYO5A , RAB27A, MLPH | RAB27A | Pigment granule transport |
| Elejalde Disease | MYO5A | No | Pigment granule transport |
| Dystrophic epidermolysis bullosa (dominant and autosomal recessive subtypes) | COL7A1 | COL7A1 | Collagen anchor of basement membrane to dermis |
| Junctional epidermolysis bullosa | LAMA3 , LAMB3, LAMC2 , COL17A1 | LAMA3, LAMB3, LAMC2, COL17A1 | Connective tissue |
| Epidermodysplasia verruciformis | EVER1 , EVER2 | No | Signal transduction in endoplasmic reticulum |
| Fanconi anemia | FANCA , FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG/XRCC9, FANCI, FANCJ/BRIP1, FANCL, FANCM, FANCN/PALB2 | Chromosomal breakage testing; BRIP1, FANCA, FANCC, FANCE, FANCF, FANCG, PALB2 | DNA repair |
| Dyskeratosis congenita | DKC1 , TERC, TINF2, NHP2/NOLA2, NOP10/NOLA3, TERT,WRAP53, C16orf57 | DKC1, TERC, TINF2, NHP2, NOP10, TERT | Telomere maintenance and trafficking |
| Rothmund-Thomson syndrome | RECQL4 , C16orf57 | RECQL4 | Chromosomal stability |
| Bloom syndrome | BLM/RECQL3 | Sister chromatid exchange, BLM | Chromosomal stability |
| Werner syndrome | WRN/RECQL2 | No | Chromosomal stability |
