MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors

Marianne Berwick; Jamie Macarthur; Irene Orlow; Peter Kanetsky; Colin B. Begg; Li Luo; Anne S. Reiner; Ajay Sharma; Bruce K. Armstrong; Anne Kricker; Anne E. Cust; Loraine D. Marrett; Stephen B. Gruber; Hoda Anton-Culver; Roberto Zanetti; Stefano Rosso; Richard P. Gallagher; Terence Dwyer; Alison Venn; Klaus Busam; Lynn From; Kirsten Anne White; Nancy E. Thomas; Pampa Roy; Susan Paine; Paul Tucker; Richard P. Gallaghe; Donna Kan; Elizabeth Theis; Argyrios Ziogas; Timothy Johnson; Judith Klotz; Shu Chen Huang; Homer Wilcox; Lisa Paddock; Robert C. Millikan; David W. Ollila; Kathleen Conway; Pamela A. Groben; Sharon N. Edmiston; Honglin Hao; Eloise Parrish; Jill S. Frank; Timothy R. Rebbeck; Julia Lee Taylor; Sasha Madronich

doi:10.1111/pcmr.12215

MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors

Marianne Berwick, Jamie Macarthur, Irene Orlow, Peter Kanetsky, Colin B. Begg, Li Luo, Anne S. Reiner, Ajay Sharma, Bruce K. Armstrong, Anne Kricker, Anne E. Cust, Loraine D. Marrett, Stephen B. Gruber, Hoda Anton-Culver, Roberto Zanetti, Stefano Rosso, Richard P. Gallagher, Terence Dwyer, Alison Venn, Klaus BusamLynn From, Kirsten Anne White, Nancy E. Thomas, Pampa Roy, Susan Paine, Paul Tucker, Richard P. Gallaghe, Donna Kan, Elizabeth Theis, Argyrios Ziogas, Timothy Johnson, Judith Klotz, Shu Chen Huang, Homer Wilcox, Lisa Paddock, Robert C. Millikan, David W. Ollila, Kathleen Conway, Pamela A. Groben, Sharon N. Edmiston, Honglin Hao, Eloise Parrish, Jill S. Frank, Timothy R. Rebbeck, Julia Lee Taylor, Sasha Madronich

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Abstract

A rare germline variant in the microphthalmia-associated transcription factor (MITF) gene, E318K, has been reported as associated with melanoma. We confirmed its independent association with melanoma [odds ratio (OR) 1.7, 95% confidence interval (CI) = 1.1, 2.7, P = 0.03]; adjusted for age, sex, center, age × sex interaction, pigmentation characteristics, family history of melanoma, and nevus density). In stratified analyses, carriage of MITF E318K was associated with melanoma more strongly in people with dark hair than fair hair (P for interaction, 0.03) and in those with no moles than some or many moles (P for interaction, <0.01). There was no evidence of interaction between MC1R 'red hair variants' and MITF E318K. Moreover, risk of melanoma among carriers with 'low risk' phenotypes was as great or greater than among those with 'at risk' phenotypes with few exceptions.

Original language	English
Pages (from-to)	485-488
Number of pages	4
Journal	Pigment Cell and Melanoma Research
Volume	27
Issue number	3
DOIs	https://doi.org/10.1111/pcmr.12215
Publication status	Published - 1 May 2014
Externally published	Yes

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Berwick, M., Macarthur, J., Orlow, I., Kanetsky, P., Begg, C. B., Luo, L., Reiner, A. S., Sharma, A., Armstrong, B. K., Kricker, A., Cust, A. E., Marrett, L. D., Gruber, S. B., Anton-Culver, H., Zanetti, R., Rosso, S., Gallagher, R. P., Dwyer, T., Venn, A., ... Madronich, S. (2014). MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors. Pigment Cell and Melanoma Research, 27(3), 485-488. https://doi.org/10.1111/pcmr.12215

@article{f4e1a64139f44ad082359f871e70f01f,

title = "MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors",

abstract = "A rare germline variant in the microphthalmia-associated transcription factor (MITF) gene, E318K, has been reported as associated with melanoma. We confirmed its independent association with melanoma [odds ratio (OR) 1.7, 95% confidence interval (CI) = 1.1, 2.7, P = 0.03]; adjusted for age, sex, center, age × sex interaction, pigmentation characteristics, family history of melanoma, and nevus density). In stratified analyses, carriage of MITF E318K was associated with melanoma more strongly in people with dark hair than fair hair (P for interaction, 0.03) and in those with no moles than some or many moles (P for interaction, <0.01). There was no evidence of interaction between MC1R 'red hair variants' and MITF E318K. Moreover, risk of melanoma among carriers with 'low risk' phenotypes was as great or greater than among those with 'at risk' phenotypes with few exceptions.",

keywords = "Case-controlstudy, Melanoma, MITF, Risk factors, Single nucleotide polymorphism",

author = "Marianne Berwick and Jamie Macarthur and Irene Orlow and Peter Kanetsky and Begg, {Colin B.} and Li Luo and Reiner, {Anne S.} and Ajay Sharma and Armstrong, {Bruce K.} and Anne Kricker and Cust, {Anne E.} and Marrett, {Loraine D.} and Gruber, {Stephen B.} and Hoda Anton-Culver and Roberto Zanetti and Stefano Rosso and Gallagher, {Richard P.} and Terence Dwyer and Alison Venn and Klaus Busam and Lynn From and White, {Kirsten Anne} and Thomas, {Nancy E.} and Pampa Roy and Susan Paine and Paul Tucker and Gallaghe, {Richard P.} and Donna Kan and Elizabeth Theis and Argyrios Ziogas and Timothy Johnson and Judith Klotz and Huang, {Shu Chen} and Homer Wilcox and Lisa Paddock and Millikan, {Robert C.} and Ollila, {David W.} and Kathleen Conway and Groben, {Pamela A.} and Edmiston, {Sharon N.} and Honglin Hao and Eloise Parrish and Frank, {Jill S.} and Rebbeck, {Timothy R.} and {Lee Taylor}, Julia and Sasha Madronich",

year = "2014",

month = may,

day = "1",

doi = "10.1111/pcmr.12215",

language = "English",

volume = "27",

pages = "485--488",

journal = "Pigment Cell and Melanoma Research",

issn = "0893-5785",

publisher = "Wiley-Blackwell",

number = "3",

}

Berwick, M, Macarthur, J, Orlow, I, Kanetsky, P, Begg, CB, Luo, L, Reiner, AS, Sharma, A, Armstrong, BK, Kricker, A, Cust, AE, Marrett, LD, Gruber, SB, Anton-Culver, H, Zanetti, R, Rosso, S, Gallagher, RP, Dwyer, T, Venn, A, Busam, K, From, L, White, KA, Thomas, NE, Roy, P, Paine, S, Tucker, P, Gallaghe, RP, Kan, D, Theis, E, Ziogas, A, Johnson, T, Klotz, J, Huang, SC, Wilcox, H, Paddock, L, Millikan, RC, Ollila, DW, Conway, K, Groben, PA, Edmiston, SN, Hao, H, Parrish, E, Frank, JS, Rebbeck, TR, Lee Taylor, J & Madronich, S 2014, 'MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors', Pigment Cell and Melanoma Research, vol. 27, no. 3, pp. 485-488. https://doi.org/10.1111/pcmr.12215

TY - JOUR

T1 - MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors

AU - Berwick, Marianne

AU - Macarthur, Jamie

AU - Orlow, Irene

AU - Kanetsky, Peter

AU - Begg, Colin B.

AU - Luo, Li

AU - Reiner, Anne S.

AU - Sharma, Ajay

AU - Armstrong, Bruce K.

AU - Kricker, Anne

AU - Cust, Anne E.

AU - Marrett, Loraine D.

AU - Gruber, Stephen B.

AU - Anton-Culver, Hoda

AU - Zanetti, Roberto

AU - Rosso, Stefano

AU - Gallagher, Richard P.

AU - Dwyer, Terence

AU - Venn, Alison

AU - Busam, Klaus

AU - From, Lynn

AU - White, Kirsten Anne

AU - Thomas, Nancy E.

AU - Roy, Pampa

AU - Paine, Susan

AU - Tucker, Paul

AU - Gallaghe, Richard P.

AU - Kan, Donna

AU - Theis, Elizabeth

AU - Ziogas, Argyrios

AU - Johnson, Timothy

AU - Klotz, Judith

AU - Huang, Shu Chen

AU - Wilcox, Homer

AU - Paddock, Lisa

AU - Millikan, Robert C.

AU - Ollila, David W.

AU - Conway, Kathleen

AU - Groben, Pamela A.

AU - Edmiston, Sharon N.

AU - Hao, Honglin

AU - Parrish, Eloise

AU - Frank, Jill S.

AU - Rebbeck, Timothy R.

AU - Lee Taylor, Julia

AU - Madronich, Sasha

PY - 2014/5/1

Y1 - 2014/5/1

N2 - A rare germline variant in the microphthalmia-associated transcription factor (MITF) gene, E318K, has been reported as associated with melanoma. We confirmed its independent association with melanoma [odds ratio (OR) 1.7, 95% confidence interval (CI) = 1.1, 2.7, P = 0.03]; adjusted for age, sex, center, age × sex interaction, pigmentation characteristics, family history of melanoma, and nevus density). In stratified analyses, carriage of MITF E318K was associated with melanoma more strongly in people with dark hair than fair hair (P for interaction, 0.03) and in those with no moles than some or many moles (P for interaction, <0.01). There was no evidence of interaction between MC1R 'red hair variants' and MITF E318K. Moreover, risk of melanoma among carriers with 'low risk' phenotypes was as great or greater than among those with 'at risk' phenotypes with few exceptions.

AB - A rare germline variant in the microphthalmia-associated transcription factor (MITF) gene, E318K, has been reported as associated with melanoma. We confirmed its independent association with melanoma [odds ratio (OR) 1.7, 95% confidence interval (CI) = 1.1, 2.7, P = 0.03]; adjusted for age, sex, center, age × sex interaction, pigmentation characteristics, family history of melanoma, and nevus density). In stratified analyses, carriage of MITF E318K was associated with melanoma more strongly in people with dark hair than fair hair (P for interaction, 0.03) and in those with no moles than some or many moles (P for interaction, <0.01). There was no evidence of interaction between MC1R 'red hair variants' and MITF E318K. Moreover, risk of melanoma among carriers with 'low risk' phenotypes was as great or greater than among those with 'at risk' phenotypes with few exceptions.

KW - Case-controlstudy

KW - Melanoma

KW - MITF

KW - Risk factors

KW - Single nucleotide polymorphism

UR - http://www.scopus.com/inward/record.url?scp=84898917509&partnerID=8YFLogxK

U2 - 10.1111/pcmr.12215

DO - 10.1111/pcmr.12215

M3 - Article

C2 - 24406078

AN - SCOPUS:84898917509

VL - 27

SP - 485

EP - 488

JO - Pigment Cell and Melanoma Research

JF - Pigment Cell and Melanoma Research

SN - 0893-5785

IS - 3

ER -

MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors

Abstract

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