Inherited variants in the MC1R gene and survival from cutaneous melanoma: A BioGenoMEL study

John R. Davies; Juliette Randerson-Moor; Kairen Kukalizch; Mark Harland; Rajiv Kumar; Srinivasan Madhusudan; Eduardo Nagore; Johan Hansson; Veronica Höiom; Paola Ghiorzo; Nelleke A. Gruis; Peter A. Kanetsky; Judith Wendt; Dace Pjanova; Susana Puig; Philippe Saiag; Dirk Schadendorf; Nadem Soufir; Ichiro Okamoto; Paul Affleck; Zaida García-Casado; Zighereda Ogbah; Aija Ozola; Paola Queirolo; Antje Sucker; Jennifer H. Barrett; Remco van Doorn; D. Timothy Bishop; Julia Newton-Bishop

doi:10.1111/j.1755-148X.2012.00982.x

Inherited variants in the MC1R gene and survival from cutaneous melanoma: A BioGenoMEL study

John R. Davies
, Juliette Randerson-Moor
, Kairen Kukalizch
, Mark Harland
, Rajiv Kumar
, Srinivasan Madhusudan
, Eduardo Nagore
, Johan Hansson
, Veronica Höiom
, Paola Ghiorzo
, Nelleke A. Gruis
, Peter A. Kanetsky
, Judith Wendt
, Dace Pjanova
, Susana Puig
, Philippe Saiag
, Dirk Schadendorf
, Nadem Soufir
, Ichiro Okamoto
, Paul Affleck

Zaida García-Casado, Zighereda Ogbah, Aija Ozola, Paola Queirolo, Antje Sucker, Jennifer H. Barrett, Remco van Doorn, D. Timothy Bishop, Julia Newton-Bishop

Research output: Contribution to journal › Article › peer-review

65 Citations (Scopus)

Abstract

Inherited MC1R variants modulate MITF transcription factor signaling, which in turn affects tumor cell proliferation, apoptosis, and DNA repair. The aim of this BioGenoMEL collaborative study in 10 melanoma cohorts was to test the hypothesis that inherited variants thereby moderate survival expectation. A survival analysis in the largest cohort (Leeds) was carried out adjusting for factors known to impact on survival. The results were then compared with data from nine smaller cohorts. The absence of any consensus MC1R alleles was associated with a significantly lower risk of death in the Leeds set (HR, 0.64; 95% CI, 0.46-0.89) and overall in the 10 data sets (HR, 0.78; 95% CI, 0.65-0.94) with some support from the nine smaller data sets considered together (HR, 0.83; 95% CI, 0.67-1.04). The data are suggestive of a survival benefit for inherited MC1R variants in melanoma patients.

Original language	English
Pages (from-to)	384-394
Number of pages	11
Journal	Pigment Cell and Melanoma Research
Volume	25
Issue number	3
DOIs	https://doi.org/10.1111/j.1755-148X.2012.00982.x
Publication status	Published - May 2012
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords*

Forest plot
MC1R
Melanoma
MITF
Survival analysis

Field of Science*

1.6 Biological sciences
3.1 Basic medicine

Publication Type*

1.1. Scientific article indexed in Web of Science and/or Scopus database

Access to Document

10.1111/j.1755-148X.2012.00982.x

Cite this

Davies, J. R., Randerson-Moor, J., Kukalizch, K., Harland, M., Kumar, R., Madhusudan, S., Nagore, E., Hansson, J., Höiom, V., Ghiorzo, P., Gruis, N. A., Kanetsky, P. A., Wendt, J., Pjanova, D., Puig, S., Saiag, P., Schadendorf, D., Soufir, N., Okamoto, I., ... Newton-Bishop, J. (2012). Inherited variants in the MC1R gene and survival from cutaneous melanoma: A BioGenoMEL study. Pigment Cell and Melanoma Research, 25(3), 384-394. https://doi.org/10.1111/j.1755-148X.2012.00982.x

@article{fcfc715be6d84d9e8ba72f9c0a7bd837,

title = "Inherited variants in the MC1R gene and survival from cutaneous melanoma: A BioGenoMEL study",

abstract = "Inherited MC1R variants modulate MITF transcription factor signaling, which in turn affects tumor cell proliferation, apoptosis, and DNA repair. The aim of this BioGenoMEL collaborative study in 10 melanoma cohorts was to test the hypothesis that inherited variants thereby moderate survival expectation. A survival analysis in the largest cohort (Leeds) was carried out adjusting for factors known to impact on survival. The results were then compared with data from nine smaller cohorts. The absence of any consensus MC1R alleles was associated with a significantly lower risk of death in the Leeds set (HR, 0.64; 95\% CI, 0.46-0.89) and overall in the 10 data sets (HR, 0.78; 95\% CI, 0.65-0.94) with some support from the nine smaller data sets considered together (HR, 0.83; 95\% CI, 0.67-1.04). The data are suggestive of a survival benefit for inherited MC1R variants in melanoma patients.",

keywords = "Forest plot, MC1R, Melanoma, MITF, Survival analysis",

author = "Davies, \{John R.\} and Juliette Randerson-Moor and Kairen Kukalizch and Mark Harland and Rajiv Kumar and Srinivasan Madhusudan and Eduardo Nagore and Johan Hansson and Veronica H{\"o}iom and Paola Ghiorzo and Gruis, \{Nelleke A.\} and Kanetsky, \{Peter A.\} and Judith Wendt and Dace Pjanova and Susana Puig and Philippe Saiag and Dirk Schadendorf and Nadem Soufir and Ichiro Okamoto and Paul Affleck and Zaida Garc{\'i}a-Casado and Zighereda Ogbah and Aija Ozola and Paola Queirolo and Antje Sucker and Barrett, \{Jennifer H.\} and \{van Doorn\}, Remco and Bishop, \{D. Timothy\} and Julia Newton-Bishop",

year = "2012",

month = may,

doi = "10.1111/j.1755-148X.2012.00982.x",

language = "English",

volume = "25",

pages = "384--394",

journal = "Pigment Cell and Melanoma Research",

issn = "1755-1471",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "3",

}

Davies, JR, Randerson-Moor, J, Kukalizch, K, Harland, M, Kumar, R, Madhusudan, S, Nagore, E, Hansson, J, Höiom, V, Ghiorzo, P, Gruis, NA, Kanetsky, PA, Wendt, J, Pjanova, D, Puig, S, Saiag, P, Schadendorf, D, Soufir, N, Okamoto, I, Affleck, P, García-Casado, Z, Ogbah, Z, Ozola, A, Queirolo, P, Sucker, A, Barrett, JH, van Doorn, R, Bishop, DT & Newton-Bishop, J 2012, 'Inherited variants in the MC1R gene and survival from cutaneous melanoma: A BioGenoMEL study', Pigment Cell and Melanoma Research, vol. 25, no. 3, pp. 384-394. https://doi.org/10.1111/j.1755-148X.2012.00982.x

TY - JOUR

T1 - Inherited variants in the MC1R gene and survival from cutaneous melanoma

T2 - A BioGenoMEL study

AU - Davies, John R.

AU - Randerson-Moor, Juliette

AU - Kukalizch, Kairen

AU - Harland, Mark

AU - Kumar, Rajiv

AU - Madhusudan, Srinivasan

AU - Nagore, Eduardo

AU - Hansson, Johan

AU - Höiom, Veronica

AU - Ghiorzo, Paola

AU - Gruis, Nelleke A.

AU - Kanetsky, Peter A.

AU - Wendt, Judith

AU - Pjanova, Dace

AU - Puig, Susana

AU - Saiag, Philippe

AU - Schadendorf, Dirk

AU - Soufir, Nadem

AU - Okamoto, Ichiro

AU - Affleck, Paul

AU - García-Casado, Zaida

AU - Ogbah, Zighereda

AU - Ozola, Aija

AU - Queirolo, Paola

AU - Sucker, Antje

AU - Barrett, Jennifer H.

AU - van Doorn, Remco

AU - Bishop, D. Timothy

AU - Newton-Bishop, Julia

PY - 2012/5

Y1 - 2012/5

N2 - Inherited MC1R variants modulate MITF transcription factor signaling, which in turn affects tumor cell proliferation, apoptosis, and DNA repair. The aim of this BioGenoMEL collaborative study in 10 melanoma cohorts was to test the hypothesis that inherited variants thereby moderate survival expectation. A survival analysis in the largest cohort (Leeds) was carried out adjusting for factors known to impact on survival. The results were then compared with data from nine smaller cohorts. The absence of any consensus MC1R alleles was associated with a significantly lower risk of death in the Leeds set (HR, 0.64; 95% CI, 0.46-0.89) and overall in the 10 data sets (HR, 0.78; 95% CI, 0.65-0.94) with some support from the nine smaller data sets considered together (HR, 0.83; 95% CI, 0.67-1.04). The data are suggestive of a survival benefit for inherited MC1R variants in melanoma patients.

AB - Inherited MC1R variants modulate MITF transcription factor signaling, which in turn affects tumor cell proliferation, apoptosis, and DNA repair. The aim of this BioGenoMEL collaborative study in 10 melanoma cohorts was to test the hypothesis that inherited variants thereby moderate survival expectation. A survival analysis in the largest cohort (Leeds) was carried out adjusting for factors known to impact on survival. The results were then compared with data from nine smaller cohorts. The absence of any consensus MC1R alleles was associated with a significantly lower risk of death in the Leeds set (HR, 0.64; 95% CI, 0.46-0.89) and overall in the 10 data sets (HR, 0.78; 95% CI, 0.65-0.94) with some support from the nine smaller data sets considered together (HR, 0.83; 95% CI, 0.67-1.04). The data are suggestive of a survival benefit for inherited MC1R variants in melanoma patients.

KW - Forest plot

KW - MC1R

KW - Melanoma

KW - MITF

KW - Survival analysis

UR - https://www.scopus.com/pages/publications/84865334617

U2 - 10.1111/j.1755-148X.2012.00982.x

DO - 10.1111/j.1755-148X.2012.00982.x

M3 - Article

C2 - 22325793

AN - SCOPUS:84865334617

SN - 1755-1471

VL - 25

SP - 384

EP - 394

JO - Pigment Cell and Melanoma Research

JF - Pigment Cell and Melanoma Research

IS - 3

ER -

Inherited variants in the MC1R gene and survival from cutaneous melanoma: A BioGenoMEL study

Abstract

UN SDGs

Keywords*

Field of Science*

Publication Type*

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