التفاصيل البيبلوغرافية
| العنوان: |
Association Between Endothelin Receptor B Nonsynonymous Variants and Melanoma Risk. |
| المؤلفون: |
Soufir, Nadem, Meziani, Roubila, Lacapère, Jean-Jacques, Bertrand, Guylene, Fumeron, Frederic, Bourillon, Agnes, Gérard, Bénédicte, Descamps, Vincent, Crickx, Béatrice, Ollivaud, Laurence, Archimbaud, Alain, Lebbe, Céleste, Basset-Seguin, Nicole, Saiag, Philippe, Grandchamp, Bernard |
| المصدر: |
JNCI: Journal of the National Cancer Institute; 9/7/2005, Vol. 97 Issue 17, p1297-1301, 5p, 4 Charts |
| مصطلحات موضوعية: |
ENDOTHELINS, PEPTIDES, MELANOMA, MELANOCYTES, EPITHELIAL cells, HIRSCHSPRUNG'S disease, CANCER |
| مستخلص: |
The endothelin signaling pathway plays a crucial role in melanocyte differentiation and migration. In this study, we investigated whether germ-line mutations of endothelin receptor B (EDNRB), a gene involved in Hirsch-sprung 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. [ABSTRACT FROM AUTHOR] |
|
Copyright of JNCI: Journal of the National Cancer Institute is the property of Oxford University Press / USA and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
Full Text Finder