Genomics

Dataset Information

0

MELARISK_MITF_geno

ABSTRACT: Genotypes at MITF E318K variant

PROVIDER: EGAD00000000121 | EGA |

REPOSITORIES: EGA

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Publications

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

Bertolotto Corine C   Lesueur Fabienne F   Giuliano Sandy S   Strub Thomas T   de Lichy Mahaut M   Bille Karine K   Dessen Philippe P   d'Hayer Benoit B   Mohamdi Hamida H   Remenieras Audrey A   Maubec Eve E   de la Fouchardière Arnaud A   Molinié Vincent V   Vabres Pierre P   Dalle Stéphane S   Poulalhon Nicolas N   Martin-Denavit Tanguy T   Thomas Luc L   Andry-Benzaquen Pascale P   Dupin Nicolas N   Boitier Françoise F   Rossi Annick A   Perrot Jean-Luc JL   Labeille Bruno B   Robert Caroline C   Escudier Bernard B   Caron Olivier O   Brugières Laurence L   Saule Simon S   Gardie Betty B   Gad Sophie S   Richard Stéphane S   Couturier Jérôme J   Teh Bin Tean BT   Ghiorzo Paola P   Pastorino Lorenza L   Puig Susana S   Badenas Celia C   Olsson Hakan H   Ingvar Christian C   Rouleau Etienne E   Lidereau Rosette R   Bahadoran Philippe P   Vielh Philippe P   Corda Eve E   Blanché Hélène H   Zelenika Diana D   Galan Pilar P   Aubin François F   Bachollet Bertrand B   Becuwe Céline C   Berthet Pascaline P   Bignon Yves Jean YJ   Bonadona Valérie V   Bonafe Jean-Louis JL   Bonnet-Dupeyron Marie-Noëlle MN   Cambazard Fréderic F   Chevrant-Breton Jacqueline J   Coupier Isabelle I   Dalac Sophie S   Demange Liliane L   d'Incan Michel M   Dugast Catherine C   Faivre Laurence L   Vincent-Fétita Lynda L   Gauthier-Villars Marion M   Gilbert Brigitte B   Grange Florent F   Grob Jean-Jacques JJ   Humbert Philippe P   Janin Nicolas N   Joly Pascal P   Kerob Delphine D   Lasset Christine C   Leroux Dominique D   Levang Julien J   Limacher Jean-Marc JM   Livideanu Cristina C   Longy Michel M   Lortholary Alain A   Stoppa-Lyonnet Dominique D   Mansard Sandrine S   Mansuy Ludovic L   Marrou Karine K   Matéus Christine C   Maugard Christine C   Meyer Nicolas N   Nogues Catherine C   Souteyrand Pierre P   Venat-Bouvet Laurence L   Zattara Hélène H   Chaudru Valérie V   Lenoir Gilbert M GM   Lathrop Mark M   Davidson Irwin I   Avril Marie-Françoise MF   Demenais Florence F   Ballotti Robert R   Bressac-de Paillerets Brigitte B  

Nature 20111019 7375

So far, no common environmental and/or phenotypic factor has been associated with melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include sun exposure, pigmentation and nevus phenotypes; risk factors associated with RCC include smoking, obesity and hypertension. A recent study of coexisting melanoma and RCC in the same patients supports a genetic predisposition underlying the association between these two cancers. The microphthalmia-associated transcription factor (M  ...[more]

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