A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus

Cancer: Risk allele identified for melanoma of the eye Researchers have discovered an important genetic risk variant linked to uveal melanoma, a rare malignant tumor of the eye. Marc-Henri Stern from Institut Curie in Paris, France, and colleagues compared more than 860,000 single DNA variants cover...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Lenha Mobuchon, Aude Battistella, Claire Bardel, Ghislaine Scelo, Alexia Renoud, Alexandre Houy, Nathalie Cassoux, Maud Milder, Géraldine Cancel-Tassin, Olivier Cussenot, Olivier Delattre, Céline Besse, Anne Boland, Jean-François Deleuze, David G. Cox, Marc-Henri Stern
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/a57ce8653dee492184c93b358133a957
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:a57ce8653dee492184c93b358133a957
record_format	dspace
spelling	oai:doaj.org-article:a57ce8653dee492184c93b358133a9572021-12-02T15:10:32ZA GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus10.1038/s41525-017-0008-52056-7944https://doaj.org/article/a57ce8653dee492184c93b358133a9572017-03-01T00:00:00Zhttps://doi.org/10.1038/s41525-017-0008-5https://doaj.org/toc/2056-7944Cancer: Risk allele identified for melanoma of the eye Researchers have discovered an important genetic risk variant linked to uveal melanoma, a rare malignant tumor of the eye. Marc-Henri Stern from Institut Curie in Paris, France, and colleagues compared more than 860,000 single DNA variants covering the entire genome, from the genomes of 259 people with uveal melanoma and 401 healthy controls, all of whom were of European ancestry. The researchers found that a series of closely linked gene variants on the short arm of chromosome 5 were significantly more common in the melanoma patients. They confirmed the association between this genomic region and disease risk in an independent cohort of 276 cancer cases and 184 controls. Expression analyses showed that the CLPTM1L gene contained in this region was more expressed in people with the risk variants, pointing to CLPTM1L playing a role in tumor development.Lenha MobuchonAude BattistellaClaire BardelGhislaine SceloAlexia RenoudAlexandre HouyNathalie CassouxMaud MilderGéraldine Cancel-TassinOlivier CussenotOlivier DelattreCéline BesseAnne BolandJean-François DeleuzeDavid G. CoxMarc-Henri SternNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 2, Iss 1, Pp 1-7 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Lenha Mobuchon Aude Battistella Claire Bardel Ghislaine Scelo Alexia Renoud Alexandre Houy Nathalie Cassoux Maud Milder Géraldine Cancel-Tassin Olivier Cussenot Olivier Delattre Céline Besse Anne Boland Jean-François Deleuze David G. Cox Marc-Henri Stern A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus
description	Cancer: Risk allele identified for melanoma of the eye Researchers have discovered an important genetic risk variant linked to uveal melanoma, a rare malignant tumor of the eye. Marc-Henri Stern from Institut Curie in Paris, France, and colleagues compared more than 860,000 single DNA variants covering the entire genome, from the genomes of 259 people with uveal melanoma and 401 healthy controls, all of whom were of European ancestry. The researchers found that a series of closely linked gene variants on the short arm of chromosome 5 were significantly more common in the melanoma patients. They confirmed the association between this genomic region and disease risk in an independent cohort of 276 cancer cases and 184 controls. Expression analyses showed that the CLPTM1L gene contained in this region was more expressed in people with the risk variants, pointing to CLPTM1L playing a role in tumor development.
format	article
author	Lenha Mobuchon Aude Battistella Claire Bardel Ghislaine Scelo Alexia Renoud Alexandre Houy Nathalie Cassoux Maud Milder Géraldine Cancel-Tassin Olivier Cussenot Olivier Delattre Céline Besse Anne Boland Jean-François Deleuze David G. Cox Marc-Henri Stern
author_facet	Lenha Mobuchon Aude Battistella Claire Bardel Ghislaine Scelo Alexia Renoud Alexandre Houy Nathalie Cassoux Maud Milder Géraldine Cancel-Tassin Olivier Cussenot Olivier Delattre Céline Besse Anne Boland Jean-François Deleuze David G. Cox Marc-Henri Stern
author_sort	Lenha Mobuchon
title	A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus
title_short	A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus
title_full	A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus
title_fullStr	A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus
title_full_unstemmed	A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus
title_sort	gwas in uveal melanoma identifies risk polymorphisms in the clptm1l locus
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/a57ce8653dee492184c93b358133a957
work_keys_str_mv	AT lenhamobuchon agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT audebattistella agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT clairebardel agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT ghislainescelo agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT alexiarenoud agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT alexandrehouy agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT nathaliecassoux agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT maudmilder agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT geraldinecanceltassin agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT oliviercussenot agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT olivierdelattre agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT celinebesse agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT anneboland agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT jeanfrancoisdeleuze agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT davidgcox agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT marchenristern agwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT lenhamobuchon gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT audebattistella gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT clairebardel gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT ghislainescelo gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT alexiarenoud gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT alexandrehouy gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT nathaliecassoux gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT maudmilder gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT geraldinecanceltassin gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT oliviercussenot gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT olivierdelattre gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT celinebesse gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT anneboland gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT jeanfrancoisdeleuze gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT davidgcox gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus AT marchenristern gwasinuvealmelanomaidentifiesriskpolymorphismsintheclptm1llocus
_version_	1718387709406347264

A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus

Ejemplares similares