Germline MC1R status influences somatic mutation burden in melanoma

Deleterious germline variants in the MC1Rgene are associated with red hair and freckles, and with an increased risk of developing melanoma. Here, the authors investigate melanoma samples from patients with and without these variants and find that their presence is predictive of a higher overall muta...

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Autores principales:	Carla Daniela Robles-Espinoza, Nicola D. Roberts, Shuyang Chen, Finbarr P. Leacy, Ludmil B. Alexandrov, Natapol Pornputtapong, Ruth Halaban, Michael Krauthammer, Rutao Cui, D. Timothy Bishop, David J. Adams
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2016
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/572d22076ce545c0bc5741c9c52dd5c3
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spelling	oai:doaj.org-article:572d22076ce545c0bc5741c9c52dd5c32021-12-02T16:56:47ZGermline MC1R status influences somatic mutation burden in melanoma10.1038/ncomms120642041-1723https://doaj.org/article/572d22076ce545c0bc5741c9c52dd5c32016-07-01T00:00:00Zhttps://doi.org/10.1038/ncomms12064https://doaj.org/toc/2041-1723Deleterious germline variants in the MC1Rgene are associated with red hair and freckles, and with an increased risk of developing melanoma. Here, the authors investigate melanoma samples from patients with and without these variants and find that their presence is predictive of a higher overall mutation prevalence.Carla Daniela Robles-EspinozaNicola D. RobertsShuyang ChenFinbarr P. LeacyLudmil B. AlexandrovNatapol PornputtapongRuth HalabanMichael KrauthammerRutao CuiD. Timothy BishopDavid J. AdamsNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-7 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Carla Daniela Robles-Espinoza Nicola D. Roberts Shuyang Chen Finbarr P. Leacy Ludmil B. Alexandrov Natapol Pornputtapong Ruth Halaban Michael Krauthammer Rutao Cui D. Timothy Bishop David J. Adams Germline MC1R status influences somatic mutation burden in melanoma
description	Deleterious germline variants in the MC1Rgene are associated with red hair and freckles, and with an increased risk of developing melanoma. Here, the authors investigate melanoma samples from patients with and without these variants and find that their presence is predictive of a higher overall mutation prevalence.
format	article
author	Carla Daniela Robles-Espinoza Nicola D. Roberts Shuyang Chen Finbarr P. Leacy Ludmil B. Alexandrov Natapol Pornputtapong Ruth Halaban Michael Krauthammer Rutao Cui D. Timothy Bishop David J. Adams
author_facet	Carla Daniela Robles-Espinoza Nicola D. Roberts Shuyang Chen Finbarr P. Leacy Ludmil B. Alexandrov Natapol Pornputtapong Ruth Halaban Michael Krauthammer Rutao Cui D. Timothy Bishop David J. Adams
author_sort	Carla Daniela Robles-Espinoza
title	Germline MC1R status influences somatic mutation burden in melanoma
title_short	Germline MC1R status influences somatic mutation burden in melanoma
title_full	Germline MC1R status influences somatic mutation burden in melanoma
title_fullStr	Germline MC1R status influences somatic mutation burden in melanoma
title_full_unstemmed	Germline MC1R status influences somatic mutation burden in melanoma
title_sort	germline mc1r status influences somatic mutation burden in melanoma
publisher	Nature Portfolio
publishDate	2016
url	https://doaj.org/article/572d22076ce545c0bc5741c9c52dd5c3
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Germline MC1R status influences somatic mutation burden in melanoma

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