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Association between endothelin receptor B nonsynonymous variants and melanoma risk.
J Natl Cancer Inst. 2005 Sep 07; 97(17):1297-301.JNCI

Abstract

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.

Authors+Show Affiliations

Laboratoire de Biochimie Hormonale et Génétique, Hôpital Bichat-Claude Bernard, AP-HP, Faculté de Médecine, Paris VII, Paris, France. nadem.soufir@bch.ap-hop-paris.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16145050

Citation

Soufir, Nadem, et al. "Association Between Endothelin Receptor B Nonsynonymous Variants and Melanoma Risk." Journal of the National Cancer Institute, vol. 97, no. 17, 2005, pp. 1297-301.
Soufir N, Meziani R, Lacapère JJ, et al. Association between endothelin receptor B nonsynonymous variants and melanoma risk. J Natl Cancer Inst. 2005;97(17):1297-301.
Soufir, N., Meziani, R., Lacapère, J. J., Bertrand, G., Fumeron, F., Bourillon, A., Gérard, B., Descamps, V., Crickx, B., Ollivaud, L., Archimbaud, A., Lebbe, C., Basset-Seguin, N., Saiag, P., & Grandchamp, B. (2005). Association between endothelin receptor B nonsynonymous variants and melanoma risk. Journal of the National Cancer Institute, 97(17), 1297-301.
Soufir N, et al. Association Between Endothelin Receptor B Nonsynonymous Variants and Melanoma Risk. J Natl Cancer Inst. 2005 Sep 7;97(17):1297-301. PubMed PMID: 16145050.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association between endothelin receptor B nonsynonymous variants and melanoma risk. AU - Soufir,Nadem, AU - Meziani,Roubila, AU - Lacapère,Jean-Jacques, AU - Bertrand,Guylene, AU - Fumeron,Frederic, AU - Bourillon,Agnes, AU - Gérard,Bénédicte, AU - Descamps,Vincent, AU - Crickx,Béatrice, AU - Ollivaud,Laurence, AU - Archimbaud,Alain, AU - Lebbe,Céleste, AU - Basset-Seguin,Nicole, AU - Saiag,Philippe, AU - Grandchamp,Bernard, AU - ,, PY - 2005/9/8/pubmed PY - 2005/9/20/medline PY - 2005/9/8/entrez SP - 1297 EP - 301 JF - Journal of the National Cancer Institute JO - J Natl Cancer Inst VL - 97 IS - 17 N2 - 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. SN - 1460-2105 UR - https://www.unboundmedicine.com/medline/citation/16145050/Association_between_endothelin_receptor_B_nonsynonymous_variants_and_melanoma_risk_ L2 - https://academic.oup.com/jnci/article-lookup/doi/10.1093/jnci/dji253 DB - PRIME DP - Unbound Medicine ER -