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Sökning: onr:"swepub:oai:DiVA.org:umu-209881" > The genomic landsca...

The genomic landscape of familial glioma

Choi, Dong-Joo (författare)
Center for Cell and Gene Therapy, Baylor College of Medicine, TX, Houston, United States
Armstrong, Georgina (författare)
Epidemiology and Population Health, Stanford University School of Medicine, CA, Stanford, United States
Lozzi, Brittney (författare)
Center for Cell and Gene Therapy, Baylor College of Medicine, TX, Houston, United States
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Vijayaraghavan, Prashanth (författare)
Rady Children's Institute for Genomic Medicine, CA, San Diego, United States
Plon, Sharon E. (författare)
Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, TX, Houston, United States
Wong, Terence C. (författare)
Rady Children's Institute for Genomic Medicine, CA, San Diego, United States
Boerwinkle, Eric (författare)
The University of Texas Health Science Center, School of Public Health, TX, Houston, United States
Muzny, Donna M. (författare)
Human Genome Sequencing Center, Baylor College of Medicine, TX, Houston, United States
Chen, Hsiao-Chi (författare)
Center for Cell and Gene Therapy, Baylor College of Medicine, TX, Houston, United States
Gibbs, Richard A. (författare)
Human Genome Sequencing Center, Baylor College of Medicine, TX, Houston, United States
Ostrom, Quinn T. (författare)
Department of Neurosurgery, Duke University School of Medicine, NC, Durham, United States
Melin, Beatrice S. (författare)
Umeå universitet,Onkologi
Deneen, Benjamin (författare)
Center for Cell and Gene Therapy, Baylor College of Medicine, TX, Houston, United States
Bondy, Melissa L. (författare)
Epidemiology and Population Health, Stanford University School of Medicine, CA, Stanford, United States
Bainbridge, Matthew N. (författare)
Rady Children's Institute for Genomic Medicine, CA, San Diego, United States
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 (creator_code:org_t)
American Association for the Advancement of Science (AAAS), 2023
2023
Engelska.
Ingår i: Science Advances. - : American Association for the Advancement of Science (AAAS). - 2375-2548. ; 9:17
Relaterad länk:
https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
https://urn.kb.se/re...
https://doi.org/10.1...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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  • Glioma is a rare brain tumor with a poor prognosis. Familial glioma is a subset of glioma with a strong genetic predisposition that accounts for approximately 5% of glioma cases. We performed whole-genome sequencing on an exploratory cohort of 203 individuals from 189 families with a history of familial glioma and an additional validation cohort of 122 individuals from 115 families. We found significant enrichment of rare deleterious variants of seven genes in both cohorts, and the most significantly enriched gene was HERC2 (P = 0.0006). Furthermore, we identified rare noncoding variants in both cohorts that were predicted to affect transcription factor binding sites or cause cryptic splicing. Last, we selected a subset of discovered genes for validation by CRISPR knockdown screening and found that DMBT1, HP1BP3, and ZCH7B3 have profound impacts on proliferation. This study performs comprehensive surveillance of the genomic landscape of familial glioma.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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