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ecc: introduces H3 K27M mutation characteristics
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van-lamnguyen committed Jan 15, 2025
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state: proposed
name: H3 K27M Mutation
identifier: ECC-MOLEC-000001
rfc: https://github.com/stjudecloud/ecc/issues/8
description: |
H3 K27M refers to a specific mutation in the histone H3 protein, where lysine at position 27 is replaced by methionine.
This mutation is primarily associated with diffuse midline gliomas (DMGs), a category of highly aggressive brain tumors that predominantly affect children but can also occur in adults.
The mutation is linked to poor prognosis, with median overall survival ranging from 10.1 to 14.4 months post-diagnosis.[PMC7739048](https://pmc.ncbi.nlm.nih.gov/articles/PMC7739048/), [38102230](https://pubmed.ncbi.nlm.nih.gov/38102230/)
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"false":
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references:
- kind: manuscript
title: Inhibition of PRC2 activity by a gain-of-function H3 mutation found in pediatric glioblastoma
authors: Peter W Lewis, Manuel M Müller, Matthew S Koletsky, Francisco Cordero, Shu Lin, Laura A Banaszynski, Benjamin A Garcia, Tom W Muir, Oren J Becher, C David Allis
context:
url: https://pubmed.ncbi.nlm.nih.gov/23539183/
highlighted: true
- kind: manuscript
title: Reduced H3K27me3 and DNA hypomethylation are major drivers of gene expression in K27M mutant pediatric high-grade gliomas
authors: Sebastian Bender, Yujie Tang, Anders M Lindroth, Volker Hovestadt, David T W Jones, Marcel Kool, Marc Zapatka, Paul A Northcott, Dominik Sturm, Wei Wang, Bernhard Radlwimmer, Jonas W Højfeldt, Nathalène Truffaux, David Castel, Simone Schubert, Marina Ryzhova, Huriye Seker-Cin, Jan Gronych, Pascal David Johann, Sebastian Stark, Jochen Meyer, Till Milde, Martin Schuhmann, Martin Ebinger, Camelia-Maria Monoranu, Anitha Ponnuswami, Spenser Chen, Chris Jones, Olaf Witt, V Peter Collins, Andreas von Deimling, Nada Jabado, Stephanie Puget, Jacques Grill, Kristian Helin, Andrey Korshunov, Peter Lichter, Michelle Monje, Christoph Plass, Yoon-Jae Cho, Stefan M Pfister
context: This manuscript introduces the foo bar baz event.
url: https://pubmed.ncbi.nlm.nih.gov/24183680/
highlighted: true
- kind: manuscript
title: The histone H3.3K27M mutation in pediatric glioma reprograms H3K27 methylation and gene expression
authors: C. McLeod, S. Sandor, M. Adetunji, V. L. Nguyen, M. Rusch*
context: Kui-Ming Chan 1, Dong Fang, Haiyun Gan, Rintaro Hashizume, Chuanhe Yu, Mark Schroeder, Nalin Gupta, Sabine Mueller, C David James, Robert Jenkins, Jann Sarkaria, Zhiguo Zhang
url: https://pubmed.ncbi.nlm.nih.gov/23603901/
highlighted: false
- kind: manuscript
title: A sensitive and specific histopathologic prognostic marker for H3F3A K27M mutant pediatric glioblastomas
authors: Sriram Venneti, Mariarita Santi, Michelle Madden Felicella, Dmitry Yarilin, Joanna J Phillips, Lisa M Sullivan, Daniel Martinez, Arie Perry, Peter W Lewis, Craig B Thompson, Alexander R Judkins
context: This manuscript introduces the foo bar baz event.
url: https://pubmed.ncbi.nlm.nih.gov/25200322/
highlighted: false
- kind: manuscript
title: H3K27M mutant glioma Disease definition and biological underpinnings
authors: Amanda M Saratsis 1, Truman Knowles 2, Antonela Petrovic 3, Javad Nazarian
context: This manuscript introduces the foo bar baz event.
url: https://pubmed.ncbi.nlm.nih.gov/37818718/
highlighted: false
- kind: manuscript
title: Clinical, radiologic, and genetic characteristics of histone H3 K27M-mutant diffuse midline gliomas in adults
authors: Jessica D Schulte, Robin A Buerki, Sarah Lapointe, Annette M Molinaro, Yalan Zhang, Javier E Villanueva-Meyer, Arie Perry, Joanna J Phillips, Tarik Tihan, Andrew W Bollen, Melike Pekmezci, Nicholas Butowski, Nancy Ann Oberheim Bush, Jennie W Taylor, Susan M Chang, Philip Theodosopoulos, Manish K Aghi, Shawn L Hervey-Jumper, Mitchel S Berger, David A Solomon, Jennifer L Clarke
context:
url: https://pmc.ncbi.nlm.nih.gov/articles/PMC7739048/
highlighted: false
- kind: manuscript
title: H3 K27M-altered glioma and diffuse intrinsic pontine glioma: Semi-systematic review of treatment landscape and future directions
authors: Martin van den Bent, Amanda M Saratsis, Marjolein Geurts, Enrico Franceschi
context:
url: https://pubmed.ncbi.nlm.nih.gov/38102230/
highlighted: false

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