Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk
Abstract
Xeroderma pigmentosum variant (XPV) is a rare recessive autosomal genodermatosis predisposing to multiple early onset skin cancers, including melanoma. XPV results from mutations of the POLH gene that encodes a DNA translesion polymerase. In this work, we tested the hypothesis that POLH variants could be associated with melanoma risk- Adolescent
- Adult
- Child
- DNA Repair
- DNA-Directed DNA Polymerase
- Epidemiologic Methods
- European Continental Ancestry Group
- Female
- France
- Gene Frequency
- Genetic Predisposition to Disease
- Genotype
- Hair Color
- Humans
- Italy
- Male
- Melanoma
- Middle Aged
- Polymorphism, Single Nucleotide
- Skin Neoplasms
- Skin Pigmentation
- Sunburn
- Ultraviolet Rays
- Xeroderma Pigmentosum
- Young Adult
- Settore MED/35 - MALATTIE CUTANEE E VENEREE
- Adolescent
- Adult
- Child
- DNA Repair
- DNA-Directed DNA Polymerase
- Epidemiologic Methods
- European Continental Ancestry Group
- Female
- France
- Gene Frequency
- Genetic Predisposition to Disease
- Genotype
- Hair Color
- Humans
- Italy
- Male
- Melanoma
- Middle Aged
- Polymorphism, Single Nucleotide
- Skin Neoplasms
- Skin Pigmentation
- Sunburn
- Ultraviolet Rays
- Xeroderma Pigmentosum
- Young Adult
- Settore MED/35 - MALATTIE CUTANEE E VENEREE