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Data Protection

Melanoma Risk Based on MC1R Genotyping including Indels and Rare Variants.

Lauren A. Penn (594755)
Meng Qian (591789)
Enhan Zhang (594756)
Elise Ng (336298)
Yongzhao Shao (136605)
Marianne Berwick (345352)
DeAnn Lazovich (594757)
David Polsky (234087)

Publication date

July 2014

DOI

10.1371/journal.pone.0101507.t004

Abstract

<p>“R”: D84E, R151C, R160W, D294H, indels, rare variants.</p><p>“r”: V60L, V92M, R163Q, R142H, I155T.</p

Extracted data

Related items

MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: a pooled analysis from the M-SKIP project

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Han J.
Little J.

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MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: a pooled analysis from the M-SKIP project

Elena Tagliabue
Sara Gandini
Rino Bellocco
Patrick Maisonneuve
Jose Carlos García-Borrón
Francesco Sera
Sara Raimondi
Gabriella Guida
Newton-Bishop J.
Polsky D.
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Kanetsky P. A
Ghiorzo P. i
Gruis N. A.
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Menin C
Fargnoli M. C.
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Little J.

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January 2018

PURPOSE: Melanoma represents an important public health problem, due to its high case-fatality rate....

A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk

Hui-Han Hu
Mériem Benfodda
Nicolas Dumaz
Steven Gazal
Vincent Descamps
Agnès Bourillon
Nicole Basset-Seguin
Angélique Riffault
Khaled Ezzedine
Martine Bagot
Armand Bensussan
Philippe Saiag
Bernard Grandchamp
Nadem Soufir

January 2014

Background. The MC1R gene implicated in melanogenesis and skin pigmentation is highly polymorphic. S...

<i>MC1R</i> variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project

February 2015

The MC1R gene is a key regulator of skin pigmentation. We aimed to evaluate the association between ...

MC1R Genotype Modifies Risk of Melanoma in Families Segregating CDKN2A Mutations

Box, Neil F.
Duffy, David L.
Chen, Wei
Stark, Mitchell
Martin, Nicholas G.
Sturm, Richard A.
Hayward, Nicholas K.

October 2001

Mutations in the exons of the cyclin-dependent kinase inhibitor gene CDKN2A are melanoma-predisposit...

Inherited variation at MC1R and histological characteristics of primary melanoma.

Taylor, Nicholas J
Busam, Klaus J
From, Lynn
Groben, Pamela A
Anton-Culver, Hoda
Cust, Anne E
Begg, Colin B
Dwyer, Terence
Gallagher, Richard P
Gruber, Stephen B
Orlow, Irene
Rosso, Stefano
Thomas, Nancy E
Zanetti, Roberto
Rebbeck, Timothy R
Berwick, Marianne
Kanetsky, Peter A

January 2015

Variation in the melanocortin-1receptor (MC1R) gene is associated with pigmentary phenotypes and ris...

MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: A pooled-analysis from the M-SKIP project

January 2015

The MC1R gene is a key regulator of skin pigmentation. We aimed to evaluate the association between ...

Inherited variation at MC1R and histological characteristics of primary melanoma.

Taylor, NJ
Busam, KJ
From, L
Groben, PA
Anton-Culver, H
Cust, AE
Begg, CB
Dwyer, T
Gallagher, RP
Gruber, SB
Orlow, I
Rosso, S
Thomas, NE
Zanetti, R
Rebbeck, TR
Berwick, M
Kanetsky, PA

January 2015

Variation in the melanocortin-1receptor (MC1R) gene is associated with pigmentary phenotypes and ris...

MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study

Cust, Anne E.
Goumas, Chris
Holland, Elizabeth A.
Agha-Hamilton, Chantelle
Aitken, Joanne F.
Armstrong, Bruce K.
Giles, Graham G.
Kefford, Richard F.
Schmid, Helen
Hopper, John L.
Mann, Graham J.
Jenkins, Mark A.

August 2012

The contribution of melanocortin-1 receptor (MC1R) gene variants to the development of early-onset m...

Research Article A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk

Vincent Descamps
Agnès Bourillon
Nicole Basset-seguin
Angélique Riffault
Khaled Ezzedine
Martine Bagot

August 2016

Copyright © 2014 Hui-Han Hu et al. This is an open access article distributed under the Creative Com...

Inherited Variation at MC1R and Histological Characteristics of Primary Melanoma

Taylor, Nicholas J
Busam, Klaus J
From, Lynn
Groben, Pamela A
Anton-Culver, Hoda
Cust, Anne E
Begg, Colin B
Dwyer, Terence
Gallagher, Richard P
Gruber, Stephen B
Orlow, Irene
Rosso, Stefano
Thomas, Nancy E
Zanetti, Roberto
Rebbeck, Timothy R
Berwick, Marianne
Kanetsky, Peter A

January 2015

Variation in the melanocortin-1receptor (MC1R) gene is associated with pigmentary phenotypes and ris...

MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations

Box, N. F.
Duffy, D. L.
Chen, W.
Stark, M.
Martin, N. G.
Sturm, R. A.
Hayward, N. K.

January 2001

Mutations in the exons of the cyclin-dependent kinase inhibitor gene CDKN2A are melanoma-predisposit...

MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: a pooled analysis from the M-SKIP project

Tagliabue E
Gandini S
Bellocco R
Maisonneuve P
Newton-Bishop J
Polsky D
Lazovich D
Kanetsky PA
Ghiorzo P
Gruis NA
Landi MT
Menin C
Fargnoli MC
García-Borrón JC
Han J
Little J
Sera F
Raimondi S

May 2018

Elena Tagliabue,1 Sara Gandini,2 Rino Bellocco,3,4 Patrick Maisonneuve,2 Julia Newton-Bishop,5 David...

Minor allele frequency (MAF) and odds ratio (OR) of <i>MC1R</i> variants in melanoma cases/families compared to the Danish population.

Karin A. W. Wadt (710515)
Lauren G. Aoude (200062)
Lotte Krogh (710516)
Lone Sunde (547072)
Anders Bojesen (447688)
Karen Grønskov (710517)
Nine Wartacz (710518)
Jakob Ek (710519)
Morten Tolstrup-Andersen (710520)
Mette Klarskov-Andersen (710521)
Åke Borg (1280)
Steffen Heegaard (378221)
Jens F. Kiilgaard (710522)
Thomas V. O. Hansen (395201)
Kerenaftali Klein (675442)
Göran Jönsson (38343)
Krzysztof T. Drzewiecki (710523)
Morten Dunø (710524)
Nicholas K. Hayward (35609)
Anne-Marie Gerdes (395264)

March 2015

<p>Minor allele frequency (MAF) and odds ratio (OR) of <i>MC1R</i> variants in melanoma cases/famili...

MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: a pooled analysis from the M-SKIP project

Elena Tagliabue
Sara Gandini
Rino Bellocco
Patrick Maisonneuve
Jose Carlos García-Borrón
Francesco Sera
Sara Raimondi
Gabriella Guida
Newton-Bishop J.
Polsky D.
Lazovich D.
Kanetsky P. A
Ghiorzo P. i
Gruis N. A.
Landi M. T.
Menin C
Fargnoli M. C.
Han J.
Little J.

January 2018

Purpose: Melanoma represents an important public health problem, due to its high case-fatality rate...

MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: a pooled analysis from the M-SKIP project

Elena Tagliabue
Sara Gandini
Rino Bellocco
Patrick Maisonneuve
Jose Carlos García-Borrón
Francesco Sera
Sara Raimondi
Gabriella Guida
Newton-Bishop J.
Polsky D.
Lazovich D.
Kanetsky P. A
Ghiorzo P. i
Gruis N. A.
Landi M. T.
Menin C
Fargnoli M. C.
Han J.
Little J.

January 2018

Purpose: Melanoma represents an important public health problem, due to its high case-fatality rate...

MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: a pooled analysis from the M-SKIP project.

Tagliabue, Elena
Gandini, Sara
Bellocco, Rino
Maisonneuve, Patrick
Newton-Bishop, Julia
Polsky, David
Lazovich, DeAnn
Kanetsky, Peter A
Ghiorzo, Paola
Gruis, Nelleke A
Landi, Maria Teresa
Menin, Chiara
Fargnoli, Maria Concetta
García-Borrón, Jose Carlos
Han, Jiali
Little, Julian
Sera, Francesco
Raimondi, Sara

January 2018

PURPOSE: Melanoma represents an important public health problem, due to its high case-fatality rate....