دورية أكاديمية
أعرض في EDS

Inherited genetics of adult diffuse glioma and polygenic risk scores-a review.

التفاصيل البيبلوغرافية
العنوان: Inherited genetics of adult diffuse glioma and polygenic risk scores-a review.
المؤلفون: Eckel-Passow JE; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Lachance DH; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Decker PA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Kollmeyer TM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Kosel ML; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Drucker KL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Slager S; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Wrensch M; Department of Neurological Surgery, Institute of Human Genetics, University of California, San Francisco, San Francisco, California, USA., Tobin WO; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA., Jenkins RB; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
المصدر: Neuro-oncology practice [Neurooncol Pract] 2022 Mar 12; Vol. 9 (4), pp. 259-270. Date of Electronic Publication: 2022 Mar 12 (Print Publication: 2022).
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101640528 Publication Model: eCollection Cited Medium: Print ISSN: 2054-2577 (Print) Linking ISSN: 20542577 NLM ISO Abbreviation: Neurooncol Pract Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Oxford : Oxford University Press, [2014]-
مستخلص: Knowledge about inherited and acquired genetics of adult diffuse glioma has expanded significantly over the past decade. Genomewide association studies (GWAS) stratified by histologic subtype identified six germline variants that were associated specifically with glioblastoma (GBM) and 12 that were associated with lower grade glioma. A GWAS performed using the 2016 WHO criteria, stratifying patients by IDH mutation and 1p/19q codeletion (as well as TERT promoter mutation), discovered that many of the known variants are associated with specific WHO glioma subtypes. In addition, the GWAS stratified by molecular group identified two additional novel regions: variants in D2HGDH that were associated with tumors that had an IDH mutation and a variant near FAM20C that was associated with tumors that had both IDH mutation and 1p/19q codeletion. The results of these germline associations have been used to calculate polygenic risk scores, from which to estimate relative and absolute risk of overall glioma and risk of specific glioma subtypes. We will review the concept of polygenic risk models and their potential clinical utility, as well as discuss the published adult diffuse glioma polygenic risk models. To date, these prior genetic studies have been done on European populations. Using the published glioma polygenic risk model, we show that the genetic associations published to date do not generalize across genetic ancestries, demonstrating that genetic studies need to be done on more diverse populations.
(© The Author(s) 2022. Published by Oxford University Press on behalf of the Society for Neuro-Oncology and the European Association of Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
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معلومات مُعتمدة: HHSN261201800032C United States CA NCI NIH HHS; HHSN261201800009C United States CA NCI NIH HHS; NU58DP006344 United States DP NCCDPHP CDC HHS; HHSN261201800015I United States CA NCI NIH HHS; P30 CA015083 United States CA NCI NIH HHS; R01 CA207360 United States CA NCI NIH HHS; HHSN261201800032I United States CA NCI NIH HHS; HHSN261201800015C United States CA NCI NIH HHS; HHSN261201800009I United States CA NCI NIH HHS
فهرسة مساهمة: Keywords: genetics; glioma; polygenic; risk; variants
تواريخ الأحداث: Date Created: 20220721 Latest Revision: 20230313
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC9290891
DOI: 10.1093/nop/npac017
PMID: 35859544
قاعدة البيانات: MEDLINE
الوصف
تدمد:2054-2577
DOI:10.1093/nop/npac017