- Jul 2018
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europepmc.org europepmc.org
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On 2016 Apr 20, Chandan Kumar commented:
In COSMIC, a mutation in MEN1, p.T541A (c.1621A>G, refers to 22 cases of hemangioblastoma from this study. This must either represent a hotspot mutation inadvertantly missed out from the study, or an experimental artifact, that got submitted and went on to populate COSMIC database. If confirmed to be a hotspot, this would be really interesting to follow up and potentially mechanistically associate with VHL loss. If however, it might just be an NGS artifact, may be helpful to withdraw from COSMIC. Thanks.
This comment, imported by Hypothesis from PubMed Commons, is licensed under CC BY.
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- Feb 2018
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europepmc.org europepmc.org
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On 2016 Apr 20, Chandan Kumar commented:
In COSMIC, a mutation in MEN1, p.T541A (c.1621A>G, refers to 22 cases of hemangioblastoma from this study. This must either represent a hotspot mutation inadvertantly missed out from the study, or an experimental artifact, that got submitted and went on to populate COSMIC database. If confirmed to be a hotspot, this would be really interesting to follow up and potentially mechanistically associate with VHL loss. If however, it might just be an NGS artifact, may be helpful to withdraw from COSMIC. Thanks.
This comment, imported by Hypothesis from PubMed Commons, is licensed under CC BY.
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