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Melanoma/Skin Cancer Health Center

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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
1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | 23
1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | 23
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