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Genetics of Skin Cancer (PDQ®)

  • Posted: 07/29/2009
  • Updated: 10/09/2014

Table 3. Hereditary Syndromes Associated with Squamous Cell Carcinoma of the Skin

Condition  Gene(s)  Clinical Testing Availabilitya Pathway 
aFor more information on genetic testing laboratories, refer to the NIH Genetic Testing Registry.
Xeroderma pigmentosum (complementation group A [OMIM], group B [OMIM], group C [OMIM], group D [OMIM], group E [OMIM], group F [OMIM], and group G [OMIM])XPA (OMIM), XPB/ERCC3 (OMIM), XPC (OMIM), XPD/ERCC2 (OMIM), XPE/DDB2 (OMIM), XPF/ERCC4 (OMIM), XPG/ERCC5 (OMIM)XPA, XPC Nucleotide excision repair
Xeroderma pigmentosum variant (OMIM)POLH/XPV (OMIM)NoError-prone polymerase
Multiple self-healing squamous epithelioma (Ferguson-Smith syndrome) (OMIM)TGFBR1 (OMIM)NoGrowth factor signaling
Oculocutaneous albinism (type IA [OMIM], type IB [OMIM],type II [OMIM], type III [OMIM], and type IV [OMIM])TYR (OMIM), OCA2 (OMIM), SLC45A2/MATP/OCA4 (OMIM), TYRP1 (OMIM)TYR, OCA2, TYRP1 Melanin synthesis
Hermansky-Pudlak syndrome (OMIM)HPS1 (OMIM), HPS3 (OMIM), HPS4 (OMIM), HPS5 (OMIM), HPS6 (OMIM), HPS7/DTNBP1 (OMIM), HPS8/BLOC1S3 (OMIM)HPS1, HPS3, HPS4, HPS7 Melanosomal and lysosomal storage
Hermansky-Pudlak syndrome, Type 2 (OMIM)AP3B1 (OMIM)NoMelanosomal and lysosomal storage
Chediak-Higashi syndrome (OMIM)LYST (OMIM)LYST Lysosomal transport regulation
Griscelli syndrome (type 1 [OMIM], type 2 [OMIM], and type 3 [OMIM])MYO5A (OMIM), RAB27A (OMIM), MLPH (OMIM)RAB27A Pigment granule transport
Elejalde disease (OMIM)MYO5A (OMIM)NoPigment granule transport
Dystrophic epidermolysis bullosa (dominant [OMIM] and autosomal recessive [OMIM] subtypes)COL7A1 (OMIM)COL7A1 Collagen anchor of basement membrane to dermis
Junctional epidermolysis bullosa (OMIM)LAMA3 (OMIM), LAMB3 (OMIM), LAMC2 (OMIM), COL17A1 (OMIM)LAMA3, LAMB3, LAMC2, COL17A1 Connective tissue
Epidermodysplasia verruciformis (OMIM)EVER1 (OMIM), EVER2 (OMIM)NoSignal transduction in endoplasmic reticulum
Fanconi anemia (OMIM)FANCA ( OMIM), FANCB (OMIM), FANCC (OMIM), FANCD1/BRCA2 (OMIM), FANCD2 (OMIM), FANCE (OMIM), FANCF (OMIM), FANCG/XRCC9 (OMIM), FANCI (OMIM), FANCJ/BRIP1 (OMIM), FANCL (OMIM), FANCM (OMIM), FANCN/PALB2 (OMIM)Chromosomal breakage testing; BRIP1, FANCA, FANCC, FANCE, FANCF, FANCG, PALB2DNA repair
Dyskeratosis congenita (OMIM)DKC1 (OMIM), TERC (OMIM), TINF2 (OMIM), NHP2/NOLA2 (OMIM), NOP10/NOLA3 (OMIM), TERT (OMIM), WRAP53 (OMIM), C16orf57 (OMIM), RTEL1 (OMIM)DKC1, TERC, TINF2, NHP2, NOP10, TERT Telomere maintenance and trafficking
Rothmund-Thomson syndrome (OMIM)RECQL4 (OMIM), C16orf57 (OMIM)RECQL4 Chromosomal stability
Bloom syndrome (OMIM)BLM/RECQL3 (OMIM)Sister chromatid exchange, BLMChromosomal stability
Werner syndrome (OMIM)WRN/RECQL2 (OMIM)NoChromosomal stability