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

C Pellegrini; Mc Fargnoli; M Suppa; Ketty Peris

doi:10.1186/1471-2350-13-81

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

C Pellegrini
, Mc Fargnoli
, M Suppa
, Ketty Peris^*

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo

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

All Science Journal Classification (ASJC) codes

Genetica
Genetica (clinica)

Keywords

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

Accesso al documento

10.1186/1471-2350-13-81

Altri file e collegamenti

Cita questo

@article{e72392fd8a394c429f96304a4c719c75,

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.",

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

author = "C Pellegrini and Mc Fargnoli and M Suppa and Ketty Peris",

year = "2012",

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

language = "English",

volume = "13",

pages = "81--81",

journal = "BMC Medical Genetics",

issn = "1471-2350",

publisher = "BIOMED CENTRAL LTD, MIDDLESEX HOUSE, 34-42 CLEVELAND ST, LONDON, ENGLAND, W1T 4LB",

number = "Settembre",

}

TY - JOUR

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

AU - Pellegrini, C

AU - Fargnoli, Mc

AU - Suppa, M

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 - Melanocortin

KW - Melanoma

KW - Monozygotic

KW - Neoplasm Invasiveness

KW - Receptor

KW - Skin Neoplasms

KW - Twins

KW - Type 1

KW - Adult

KW - Base Sequence

KW - Female

KW - Genetic Predisposition to Disease

KW - Genetic Variation

KW - Humans

KW - Melanocortin

KW - Melanoma

KW - Monozygotic

KW - Neoplasm Invasiveness

KW - Receptor

KW - Skin Neoplasms

KW - Twins

KW - Type 1

UR - https://publicatt.unicatt.it/handle/10807/56394

UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=84866173122&origin=inward

UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84866173122&origin=inward

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

IS - Settembre

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

Keywords

Accesso al documento

Altri file e collegamenti

Fingerprint

Cita questo