Journal Article

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 and Bernard Grandchamp

in JNCI: Journal of the National Cancer Institute

Volume 97, issue 17, pages 1297-1301
Published in print September 2005 | ISSN: 0027-8874
Published online September 2005 | e-ISSN: 1460-2105 | DOI:
Association Between Endothelin Receptor B Nonsynonymous Variants and Melanoma Risk

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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.

Journal Article.  4232 words. 

Subjects: Medical Oncology

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