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JNCI Journal of the National Cancer Institute 2005 97(17):1297-1301; doi:10.1093/jnci/dji253
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© 2005 Oxford University Press

BRIEF COMMUNICATION

Association Between Endothelin Receptor B Nonsynonymous Variants and Melanoma Risk

Nadem Soufir, Roubila Meziani, Jean-Jacques Lacapère, Guylene Bertrand, Frederic Fumeron, Agnes Bourillon, Bénédicte Gérard, Vincent Descamps, Béatrice Crickx, Laurence Ollivaud, Alain Archimbaud, Céleste Lebbe, Nicole Basset-Seguin, Philippe Saiag, Bernard Grandchamp
for the Investigators of the Melan-Cohort

Affiliations of authors: Laboratoire de Biochimie Hormonale et Génétique, Hôpital Bichat-Claude Bernard, AP-HP, Faculté de Médecine Paris VII, Paris, France (NS, RM, GB, AB, BG); Inserm U 410 Faculté de Médecine Paris VII Bichat-Claude Bernard, Paris, France (J-JL); EA 3516, Université Paris 7, Faculté de Médecine Paris VII Bichat-Claude Bernard, Paris, France (FF); Service de Dermatologie, Hôpital Bichat-Claude Bernard, Paris, AP-HP, Faculté de Médecine ParisVII, Paris, France (VD, BC); Service de Dermatologie, Hôpital Saint-Louis, AP-HP, Faculté de Médecine Paris VII, Paris, France (LO, AA, CL, NB-S); Service de Dermatologie, Hôpital Ambroise Paré, AP-HP, Faculté de Médecine Paris-Ile de France Ouest, Boulogne Billancourt, France (PS)

Correspondence to: Nadem Soufir, MD, PhD, Laboratoire de Biochimie Hormonale et Génétique, IFR02; Hopital Bichat-Claude Bernard, 46 rue Henri Huchard, 75018 Paris, France (e-mail: nadem.soufir{at}bch.ap-hop-paris.fr).

The endothelin signaling pathway plays a crucial role in melanocyte differentiation and migration. In this study, we investigated whether germline mutations of endothelin receptor B (EDNRB), a gene involved in Hirschsprung disease (HSCR), could also predispose for malignant melanoma (MM). The coding region of EDNRB was sequenced in 137 MM patients and in 130 ethnically matched Caucasian control subjects. Six nonsynonymous EDNRB variants were found in 15 patients (11%), but only two were found in four control subjects (3%, odds ratio [OR] = 3.87, 95% confidence interval [CI] = 1.25 to 12; P = .012). Overall, 14 out of 15 MM patients carried EDNRB mutations reported in HSCR, some of which had previously been shown to lead to loss of function. In multivariable logistic regression analysis including skin type, eye and hair color, number of nevi, and dorsal lentigines (freckles), the association between EDNRB mutations and MM risk remained statistically significant (OR = 19.9, 95% CI = 1.34 to 296.2; P = .03). Our data strongly suggest that EDNRB is involved in predisposition for two different multigenic disorders, HSCR and melanoma.


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Correspondence about this Article

Re: Association Between Endothelin Receptor B Nonsynonymous Variants and Melanoma Risk
Ranjit K. Thirumaran, Adina Thoelke, Selma Ugurel, Kari Hemminki, Dirk Schadendorf, and Rajiv Kumar
J Natl Cancer Inst 2006 98: 1252-1253. [Extract] [Full Text] [PDF]



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R. K. Thirumaran, A. Thoelke, S. Ugurel, K. Hemminki, D. Schadendorf, and R. Kumar
Re: association between endothelin receptor B nonsynonymous variants and melanoma risk.
J Natl Cancer Inst, September 6, 2006; 98(17): 1252 - 1253.
[Full Text] [PDF]


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