From: Genetics of Skin Cancer (PDQ®)
PDQ Cancer Information Summaries [Internet].
Bethesda (MD): National Cancer Institute (US); 2002-.
NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
Table 5. Hereditary Syndromes Associated with Squamous Cell Carcinoma of the Skin
| Condition | Gene(s) | Clinical Testing Availabilitya | Pathway |
|---|---|---|---|
| Bloom syndrome (OMIM) | BLM/RECQL3 (OMIM) | Sister chromatid exchange, BLM | Chromosomal stability |
| Chediak-Higashi syndrome (OMIM) | LYST (OMIM) | LYST | Lysosomal transport regulation |
| 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 |
| Dystrophic epidermolysis bullosa (autosomal dominant [OMIM] and autosomal recessive [OMIM] subtypes) | COL7A1 (OMIM) | COL7A1 | Collagen anchor of basement membrane to dermis |
| Elejalde disease (OMIM) | MYO5A (OMIM) | No | Pigment granule transport |
| Epidermodysplasia verruciformis (OMIM) | EVER1/TMC6 (OMIM), EVER2/TMC8 (OMIM) | No | Signal 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/BACH1 OMIM), FANCL (OMIM), FANCM (OMIM), FANCN/PALB2 (OMIM), FANCO/RAD51C (OMIM), FANCP/SLX4/BTBD12 (OMIM), FANCQ/ERCC4/XPF (OMIM), FANCS/BRCA1 (OMIM) | Chromosomal breakage testing; BRIP1, FANCA, FANCC, FANCE, FANCF, FANCG, PALB2, BRCA1, BRCA2, ERCC4, RAD51C, SLX4 | DNA repair |
| Griscelli syndrome (type 1 [OMIM], type 2 [OMIM], and type 3 [OMIM]) | MYO5A (OMIM), RAB27A (OMIM), MLPH (OMIM) | RAB27A | Pigment granule transport |
| 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) | No | Melanosomal and lysosomal storage |
| Huriez syndrome (OMIM) | Unknown; Locus 4q23 | No | Unknown |
| Junctional epidermolysis bullosa (OMIM) | LAMA3 (OMIM), LAMB3 (OMIM), LAMC2 (OMIM), COL17A1 (OMIM) | LAMA3, LAMB3, LAMC2, COL17A1 | Connective tissue |
| Multiple self-healing squamous epithelioma (Ferguson-Smith syndrome) (OMIM) | TGFBR1 (OMIM) | No | Growth factor signaling |
| Oculocutaneous albinism (type IA [OMIM], type IB [OMIM], type II [OMIM], type III [OMIM], type IV [OMIM], type V [OMIM], type VI [OMIM], and type VII [OMIM]) | TYR (OMIM), OCA2 (OMIM), TYRP1 (OMIM), SLC45A2/MATP/OCA4 (OMIM), Locus 4q24, SLC24A5 (OMIM), C10Orf11 (OMIM) | TYR, OCA2, TYRP1 | Melanin synthesis |
| Rothmund-Thomson syndrome (OMIM) | RECQL4 (OMIM), C16orf57 (OMIM) | RECQL4 | Chromosomal stability |
| Werner syndrome (OMIM) | WRN/RECQL2 (OMIM) | No | Chromosomal stability |
| 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) | No | Error-prone polymerase |
aFor more information on genetic testing laboratories, refer to the NIH Genetic Testing Registry.