Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study (Q34212766)

31 July 2017

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study (English)

1 reference

31 July 2017

L Pastorino

33

0 references

Mitchell S. Stark

M Stark

36

0 references

Nelleke A Gruis

N Gruis

41

0 references

Florence Demenais

F Demenais

1

0 references

Susana Puig

S Puig

34

0 references

Timothy Bishop

D T Bishop

6

0 references

Håkan Olsson

H Olsson

31

0 references

Julia A Newton Bishop

5

J A Newton Bishop

1 reference

31 July 2017

H Mohamdi

2

1 reference

31 July 2017

V Chaudru

3

1 reference

31 July 2017

A M Goldstein

4

1 reference

31 July 2017

P A Kanetsky

7

1 reference

31 July 2017

N K Hayward

8

1 reference

31 July 2017

E Gillanders

9

1 reference

31 July 2017

D E Elder

10

1 reference

31 July 2017

M F Avril

11

1 reference

31 July 2017

E Azizi

12

1 reference

31 July 2017

P van Belle

13

1 reference

31 July 2017

W Bergman

14

1 reference

31 July 2017

G Bianchi-Scarrà

15

1 reference

31 July 2017

B Bressac-de Paillerets

16

1 reference

31 July 2017

D Calista

17

1 reference

31 July 2017

C Carrera

18

1 reference

31 July 2017

J Hansson

19

1 reference

31 July 2017

M Harland

20

1 reference

31 July 2017

D Hogg

21

1 reference

31 July 2017

V Höiom

22

1 reference

31 July 2017

E A Holland

23

1 reference

31 July 2017

C Ingvar

24

1 reference

31 July 2017

M T Landi

25

1 reference

31 July 2017

J M Lang

26

1 reference

31 July 2017

R M Mackie

27

1 reference

31 July 2017

G J Mann

28

1 reference

31 July 2017

M E Ming

29

1 reference

31 July 2017

C J Njauw

30

1 reference

31 July 2017

J Palmer

32

1 reference

31 July 2017

J Randerson-Moor

35

1 reference

31 July 2017

H Tsao

37

1 reference

31 July 2017

M A Tucker

38

1 reference

31 July 2017

P van der Velden

39

1 reference

31 July 2017

X R Yang

40

1 reference

31 July 2017

Melanoma Genetics Consortium

42

1 reference

31 July 2017

language of work or name

English

0 references

publication date

28 September 2010

1 reference

Journal of the National Cancer Institute

31 July 2017

1 reference

31 July 2017

102

1 reference

31 July 2017

1568-1583

1 reference

31 July 2017

20

1 reference

Does MC1R genotype convey information about melanoma risk beyond risk phenotypes?

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Genome-wide association study identifies three loci associated with melanoma risk

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

MC1R variants, melanoma and red hair color phenotype: a meta-analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

The Queensland Study of Melanoma: environmental and genetic associations (Q-MEGA); study design, baseline characteristics, and repeatability of phenotype and sun exposure measures

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Melanocortin-1 receptor signaling markedly induces the expression of the NR4A nuclear receptor subgroup in melanocytic cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Genetic determinants of hair, eye and skin pigmentation in Europeans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alteration in variant alleles associated with red hair and skin cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Melanocortin-1 receptor structure and functional regulation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Role of the CDKN2A locus in patients with multiple primary melanomas

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

The genetics of sun sensitivity in humans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Quantifying heterogeneity in a meta-analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Geographical variation in the penetrance of CDKN2A mutations for melanoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Human pigmentation genes: identification, structure and consequences of polymorphic variation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Evaluation of candidate genes in case-control studies: a statistical method to account for related subjects

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Cyclic AMP a key messenger in the regulation of skin pigmentation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Mutation testing in melanoma families: INK4A, CDK4 and INK4D

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

The Ink4a tumor suppressor gene product, p19Arf, interacts with MDM2 and neutralizes MDM2's inhibition of p53

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Germline p16 mutations in familial melanoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus

28 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Inhibition of ras-induced proliferation and cellular transformation by p16INK4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Influence of Genes, Nevi, and Sun Sensitivity on Melanoma Risk in a Family Sample Unselected by Family History and in Melanoma-Prone Families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Comprehensive evaluation of allele frequency differences of MC1R variants across populations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Novel MC1R variants in Ligurian melanoma patients and controls.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

MC1R variant alleles and malignant melanoma risk in Israel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Anti-inflammatory and anti-invasive effects of α-melanocyte-stimulating hormone in human melanoma cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Melanin content and MC1R function independently affect UVR-induced DNA damage in cultured human melanocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Alpha-melanocyte stimulating hormone potentiates p16/CDKN2A expression in human skin after ultraviolet irradiation.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Gene-covariate interaction between dysplastic nevi and the CDKN2A gene in American melanoma-prone families

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957428

Melanocortin 1 Receptor (MC1R) Gene Variants are Associated with an Increased Risk for Cutaneous Melanoma Which is Largely Independent of Skin Type and Hair Color

28 October 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNCI%2FDJQ363

Val92Met variant of the melanocyte stimulating hormone receptor gene

21 January 2018

1 reference

12 December 2020

Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma

1 reference

12 December 2020

CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas

1 reference

12 December 2020

alpha-Melanocortin and endothelin-1 activate antiapoptotic pathways and reduce DNA damage in human melanocytes

1 reference

12 December 2020

MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population

1 reference

12 December 2020

Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations

1 reference

12 December 2020

CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families

1 reference

12 December 2020

Re: MC1R, ASIP, and DNA Repair in Sporadic and Familial Melanoma in a Mediterranean Population

1 reference

12 December 2020

Identifiers

DOI

10.1093/JNCI/DJQ363

1 reference

31 July 2017

1 reference

31 July 2017

1 reference