| Title | The genomic landscape of familial glioma. |
| Publication Type | Journal Article |
| Year of Publication | 2023 |
| Authors | Choi, D-J, Armstrong, G, Lozzi, B, Vijayaraghavan, P, Plon, SE, Wong, TC, Boerwinkle, E, Muzny, DM, Chen, H-C, Gibbs, RA, Ostrom, QT, Melin, B, Deneen, B, Bondy, ML, Bainbridge, MN, Amos, CI, Barnholtz-Sloan, JS, Bernstein, JL, Claus, EB, Houlston, RS, Il'yasova, D, Jenkins, RB, Johansen, C, Lachance, D, Lai, R, Melin, BS, Merrell, RT, Olson, SH, Sadetzki, S, Schildkraut, J, Shete, S, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, CR, Brittain, H, Brown, MA, Caulfield, MJ, Chan, GC, Giess, A, Griffin, JN, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lakey, A, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, McEntagart, M, Minneci, F, Mitchell, J, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O'Donovan, P, Odhams, CA, Patch, C, Perez-Gil, D, Pereira, MB, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smith, SC, Sosinsky, A, Stuckey, A, Tanguy, M, Tavares, ALTaylor, Thomas, ERA, Thompson, SR, Tucci, A, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M |
| Corporate Authors | Gliogene Consortium, Genomics England Research Consortium |
| Journal | Sci Adv |
| Volume | 9 |
| Issue | 17 |
| Pagination | eade2675 |
| Date Published | 2023 Apr 28 |
| ISSN | 2375-2548 |
| Keywords | Brain Neoplasms, Calcium-Binding Proteins, DNA-Binding Proteins, Genetic Predisposition to Disease, Genomics, Glioma, Humans, Tumor Suppressor Proteins, Whole Genome Sequencing |
| 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 ( = 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 , have profound impacts on proliferation. This study performs comprehensive surveillance of the genomic landscape of familial glioma. |
| DOI | 10.1126/sciadv.ade2675 |
| Alternate Journal | Sci Adv |
| PubMed ID | 37115922 |
| PubMed Central ID | PMC10146888 |
| Grant List | 25514 / CRUK_ / Cancer Research UK / United Kingdom T32 HL092332 / HL / NHLBI NIH HHS / United States R01 CA217105 / CA / NCI NIH HHS / United States MR/M009203/1 / MRC_ / Medical Research Council / United Kingdom MC_PC_14089 / MRC_ / Medical Research Council / United Kingdom MC_EX_MR/M009203/1 / MRC_ / Medical Research Council / United Kingdom MR/T028068/1 / MRC_ / Medical Research Council / United Kingdom |
The genomic landscape of familial glioma.
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