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    Genetics of Skin Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Squamous Cell Carcinoma

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

    Condition Gene(s) Clinical Testing Availabilitya Pathway
    a For more information on genetic testing laboratories, refer to theNIH 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) No Error-prone polymerase
    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], 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) No Melanosomal 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) No Pigment 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) 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 (OMIM),FANCL(OMIM),FANCM(OMIM),FANCN/PALB2(OMIM) Chromosomal breakage testing;BRIP1, FANCA, FANCC, FANCE, FANCF, FANCG, PALB2 DNA 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,BLM Chromosomal stability
    Werner syndrome(OMIM) WRN/RECQL2(OMIM) No Chromosomal stability
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