Article
The genomic landscape of familial glioma.
Science advances - 28 Apr 2023
Choi Dong-Joo, Armstrong Georgina, Lozzi Brittney, Vijayaraghavan Prashanth, Plon Sharon E, Wong Terence C, Boerwinkle Eric, Muzny Donna M, Chen Hsiao-Chi, Gibbs Richard A, Ostrom Quinn T, Melin Beatrice, Deneen Benjamin, Bondy Melissa L, Bainbridge Matthew N, Amos Christopher I, Barnholtz-Sloan Jill S, Bernstein Jonine L, Claus Elizabeth B, Houlston Richard S, Il'yasova Dora, Jenkins Robert B, Johansen Christoffer, Lachance Daniel, Lai Rose, Melin Beatrice S, Merrell Ryan T, Olson Sara H, Sadetzki Siegal, Schildkraut Joellen, Shete Sanjay, Ambrose J C, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred C R, Brittain H, Brown M A, Caulfield M J, Chan G C, Giess A, Griffin J N, Hamblin A, Henderson S, Hubbard T J P, Jackson R, Jones L J, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh S E A, Leong I U S, Lopez F J, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need A C, O'Donovan P, Odhams C A, Patch C, Perez-Gil D, Pereira M B, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott R H, Siddiq A, Sieghart A, Smith S C, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares A L, Thomas E R A, Thompson S R, Tucci A, Welland M J, Williams E, Witkowska K, Wood S M, Zarowiecki M
Abstract excerpt
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...
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