Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk

J Di Lucca; M Guedj; J Lacapère; Mc Fargnoli; A Bourillon; P Dieudé; N Dupin; P Wolkenstein; P Aegerter; P Saiag; V Descamps; C Lebbe; N Basset Seguin; Ketty Peris; B Grandchamp; N. Soufir

doi:10.1016/j.ejca.2009.04.034

Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk

J Di Lucca
, M Guedj
, J Lacapère
, Mc Fargnoli
, A Bourillon
, P Dieudé
, N Dupin
, P Wolkenstein
, P Aegerter
, P Saiag
, V Descamps
, C Lebbe
, N Basset Seguin
, Ketty Peris
, B Grandchamp
, N. Soufir

Risultato della ricerca: Contributo in rivista › Articolo

27 Citazioni (Scopus)

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.

Lingua originale	Inglese
pagine (da-a)	3228-3236
Numero di pagine	9
Rivista	European Journal of Cancer
Volume	45
Numero di pubblicazione	18
DOI	https://doi.org/10.1016/j.ejca.2009.04.034
Stato di pubblicazione	Pubblicato - 2009

Keywords

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

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10.1016/j.ejca.2009.04.034

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Di Lucca, J., Guedj, M., Lacapère, J., Fargnoli, M., Bourillon, A., Dieudé, P., Dupin, N., Wolkenstein, P., Aegerter, P., Saiag, P., Descamps, V., Lebbe, C., Basset Seguin, N., Peris, K., Grandchamp, B., & Soufir, N. (2009). Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk. European Journal of Cancer, 45(18), 3228-3236. https://doi.org/10.1016/j.ejca.2009.04.034

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title = "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.",

keywords = "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, 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",

author = "\{Di Lucca\}, J and M Guedj and J Lacap{\`e}re and Mc Fargnoli and A Bourillon and P Dieud{\'e} and N Dupin and P Wolkenstein and P Aegerter and P Saiag and V Descamps and C Lebbe and \{Basset Seguin\}, N and Ketty Peris and B Grandchamp and N. Soufir",

year = "2009",

doi = "10.1016/j.ejca.2009.04.034",

language = "English",

volume = "45",

pages = "3228--3236",

journal = "European Journal of Cancer",

issn = "0959-8049",

publisher = "Elsevier Ltd",

number = "18",

}

Di Lucca, J, Guedj, M, Lacapère, J, Fargnoli, M, Bourillon, A, Dieudé, P, Dupin, N, Wolkenstein, P, Aegerter, P, Saiag, P, Descamps, V, Lebbe, C, Basset Seguin, N, Peris, K, Grandchamp, B & Soufir, N 2009, 'Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk', European Journal of Cancer, vol. 45, n. 18, pagg. 3228-3236. https://doi.org/10.1016/j.ejca.2009.04.034

TY - JOUR

T1 - Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk

AU - Di Lucca, J

AU - Guedj, M

AU - Lacapère, J

AU - Fargnoli, Mc

AU - Bourillon, A

AU - Dieudé, P

AU - Dupin, N

AU - Wolkenstein, P

AU - Aegerter, P

AU - Saiag, P

AU - Descamps, V

AU - Lebbe, C

AU - Basset Seguin, N

AU - Peris, Ketty

AU - Grandchamp, B

AU - Soufir, N.

PY - 2009

Y1 - 2009

N2 - 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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Child

KW - DNA Repair

KW - DNA-Directed DNA Polymerase

KW - Epidemiologic Methods

KW - European Continental Ancestry Group

KW - Female

KW - France

KW - Gene Frequency

KW - Genetic Predisposition to Disease

KW - Genotype

KW - Hair Color

KW - Humans

KW - Italy

KW - Male

KW - Melanoma

KW - Middle Aged

KW - Polymorphism

KW - Single Nucleotide

KW - Skin Neoplasms

KW - Skin Pigmentation

KW - Sunburn

KW - Ultraviolet Rays

KW - Xeroderma Pigmentosum

KW - Young Adult

KW - Adolescent

KW - Adult

KW - Child

KW - DNA Repair

KW - DNA-Directed DNA Polymerase

KW - Epidemiologic Methods

KW - European Continental Ancestry Group

KW - Female

KW - France

KW - Gene Frequency

KW - Genetic Predisposition to Disease

KW - Genotype

KW - Hair Color

KW - Humans

KW - Italy

KW - Male

KW - Melanoma

KW - Middle Aged

KW - Polymorphism

KW - Single Nucleotide

KW - Skin Neoplasms

KW - Skin Pigmentation

KW - Sunburn

KW - Ultraviolet Rays

KW - Xeroderma Pigmentosum

KW - Young Adult

UR - https://publicatt.unicatt.it/handle/10807/57425

U2 - 10.1016/j.ejca.2009.04.034

DO - 10.1016/j.ejca.2009.04.034

M3 - Article

SN - 0959-8049

VL - 45

SP - 3228

EP - 3236

JO - European Journal of Cancer

JF - European Journal of Cancer

IS - 18

ER -

Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk

Abstract

Keywords

OSS delle Nazioni Unite

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