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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

ConditionGene(s)Clinical Testing AvailabilityaPathway
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, XPCNucleotide 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, TYRP1Melanin synthesis
Hermansky-Pudlak syndrome(OMIM)HPS1 (OMIM),HPS3(OMIM),HPS4(OMIM),HPS5(OMIM),HPS6(OMIM),HPS7/DTNBP1(OMIM),HPS8/BLOC1S3(OMIM)HPS1, HPS3, HPS4, HPS7Melanosomal and lysosomal storage
Hermansky-Pudlak syndrome, Type 2(OMIM)AP3B1(OMIM)NoMelanosomal and lysosomal storage
Chediak-Higashi syndrome(OMIM)LYST(OMIM)LYSTLysosomal transport regulation
Griscelli syndrome(type 1 [OMIM], type 2 [OMIM], and type 3 [OMIM])MYO5A(OMIM),RAB27A(OMIM),MLPH(OMIM)RAB27APigment granule transport
Elejalde disease(OMIM)MYO5A (OMIM)NoPigment granule transport
Dystrophic epidermolysis bullosa(dominant [OMIM] and autosomal recessive [OMIM] subtypes)COL7A1(OMIM)COL7A1Collagen anchor of basement membrane to dermis
Junctional epidermolysis bullosa(OMIM)LAMA3(OMIM),LAMB3(OMIM),LAMC2(OMIM),COL17A1 (OMIM)LAMA3, LAMB3, LAMC2, COL17A1Connective 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, TERTTelomere maintenance and trafficking
Rothmund-Thomson syndrome(OMIM)RECQL4(OMIM),C16orf57(OMIM)RECQL4Chromosomal stability
Bloom syndrome(OMIM)BLM/RECQL3(OMIM)Sister chromatid exchange,BLMChromosomal stability
Werner syndrome(OMIM)WRN/RECQL2(OMIM)NoChromosomal stability
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