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The genomic landscape of familial glioma.

ABSTRACT: 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.

SUBMITTER: Choi DJ 

PROVIDER: S-EPMC10146888 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature

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The genomic landscape of familial glioma.

Choi Dong-Joo DJ   Armstrong Georgina G   Lozzi Brittney B   Vijayaraghavan Prashanth P   Plon Sharon E SE   Wong Terence C TC   Boerwinkle Eric E   Muzny Donna M DM   Chen Hsiao-Chi HC   Gibbs Richard A RA   Ostrom Quinn T QT   Melin Beatrice B   Deneen Benjamin B   Bondy Melissa L ML   Bainbridge Matthew N MN   Amos Christopher I CI   Barnholtz-Sloan Jill S JS   Bernstein Jonine L JL   Claus Elizabeth B EB   Houlston Richard S RS   Il'yasova Dora D   Jenkins Robert B RB   Johansen Christoffer C   Lachance Daniel D   Lai Rose R   Melin Beatrice S BS   Merrell Ryan T RT   Olson Sara H SH   Sadetzki Siegal S   Schildkraut Joellen J   Shete Sanjay S   Ambrose J C JC   Arumugam P P   Bevers R R   Bleda M M   Boardman-Pretty F F   Boustred C R CR   Brittain H H   Brown M A MA   Caulfield M J MJ   Chan G C GC   Giess A A   Griffin J N JN   Hamblin A A   Henderson S S   Hubbard T J P TJP   Jackson R R   Jones L J LJ   Kasperaviciute D D   Kayikci M M   Kousathanas A A   Lahnstein L L   Lakey A A   Leigh S E A SEA   Leong I U S IUS   Lopez F J FJ   Maleady-Crowe F F   McEntagart M M   Minneci F F   Mitchell J J   Moutsianas L L   Mueller M M   Murugaesu N N   Need A C AC   O'Donovan P P   Odhams C A CA   Patch C C   Perez-Gil D D   Pereira M B MB   Pullinger J J   Rahim T T   Rendon A A   Rogers T T   Savage K K   Sawant K K   Scott R H RH   Siddiq A A   Sieghart A A   Smith S C SC   Sosinsky A A   Stuckey A A   Tanguy M M   Taylor Tavares A L AL   Thomas E R A ERA   Thompson S R SR   Tucci A A   Welland M J MJ   Williams E E   Witkowska K K   Wood S M SM   Zarowiecki M M  

Science advances 20230428 17

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 signific  ...[more]

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