MC1R variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair

Cristina Pellegrini; Maria C. Fargnoli; Mariano Suppa; Ketty Peris

doi:10.1186/1471-2350-13-81

MC1R variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair

Cristina Pellegrini, Maria C. Fargnoli, Mariano Suppa, Ketty Peris

University of L'Aquila

Risultato della ricerca: Contributo in rivista › Articolo in rivista

2 Citazioni (Scopus)

Abstract

Concomitant primary cutaneous melanoma in monozygotic twins has been reported in only two pairs but in neither of them genetic analysis was performed. Two high-penetrance susceptibility genes, CDKN2A and CDK4 and one low-penetrance gene, MC1R, are well-defined genetic risk factors for melanoma. MITF has been recently identified as a novel intermediate risk melanoma-predisposing gene.

Lingua originale	English
pagine (da-a)	81-81
Numero di pagine	1
Rivista	BMC Medical Genetics
Volume	13
DOI	https://doi.org/10.1186/1471-2350-13-81
Stato di pubblicazione	Pubblicato - 2012

Keywords

Adult
Base Sequence
Female
Genetic Predisposition to Disease
Genetic Variation
Humans
Melanoma
Neoplasm Invasiveness
Receptor, Melanocortin, Type 1
Skin Neoplasms
Twins, Monozygotic

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10.1186/1471-2350-13-81

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title = "MC1R variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair",

abstract = "Concomitant primary cutaneous melanoma in monozygotic twins has been reported in only two pairs but in neither of them genetic analysis was performed. Two high-penetrance susceptibility genes, CDKN2A and CDK4 and one low-penetrance gene, MC1R, are well-defined genetic risk factors for melanoma. MITF has been recently identified as a novel intermediate risk melanoma-predisposing gene.",

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author = "Cristina Pellegrini and Fargnoli, {Maria C.} and Mariano Suppa and Ketty Peris",

year = "2012",

doi = "10.1186/1471-2350-13-81",

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TY - JOUR

T1 - MC1R variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair

AU - Pellegrini, Cristina

AU - Fargnoli, Maria C.

AU - Suppa, Mariano

AU - Peris, Ketty

PY - 2012

Y1 - 2012

N2 - Concomitant primary cutaneous melanoma in monozygotic twins has been reported in only two pairs but in neither of them genetic analysis was performed. Two high-penetrance susceptibility genes, CDKN2A and CDK4 and one low-penetrance gene, MC1R, are well-defined genetic risk factors for melanoma. MITF has been recently identified as a novel intermediate risk melanoma-predisposing gene.

AB - Concomitant primary cutaneous melanoma in monozygotic twins has been reported in only two pairs but in neither of them genetic analysis was performed. Two high-penetrance susceptibility genes, CDKN2A and CDK4 and one low-penetrance gene, MC1R, are well-defined genetic risk factors for melanoma. MITF has been recently identified as a novel intermediate risk melanoma-predisposing gene.

KW - Adult

KW - Base Sequence

KW - Female

KW - Genetic Predisposition to Disease

KW - Genetic Variation

KW - Humans

KW - Melanoma

KW - Neoplasm Invasiveness

KW - Receptor, Melanocortin, Type 1

KW - Skin Neoplasms

KW - Twins, Monozygotic

KW - Adult

KW - Base Sequence

KW - Female

KW - Genetic Predisposition to Disease

KW - Genetic Variation

KW - Humans

KW - Melanoma

KW - Neoplasm Invasiveness

KW - Receptor, Melanocortin, Type 1

KW - Skin Neoplasms

KW - Twins, Monozygotic

UR - http://hdl.handle.net/10807/56394

U2 - 10.1186/1471-2350-13-81

DO - 10.1186/1471-2350-13-81

M3 - Article

SN - 1471-2350

VL - 13

SP - 81

EP - 81

JO - BMC Medical Genetics

JF - BMC Medical Genetics

ER -

MC1R variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair

Abstract

Keywords

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