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

机译：成人弥漫性胶质瘤的遗传遗传学及多基因风险评分综述

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摘要

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.
机译：继承和遗传获得的知识成人弥漫性神经胶质瘤已显著扩大在过去的十年。研究(GWAS)分层组织学亚型识别六生殖系变异特别是与胶质母细胞瘤(GBM)和12个等级较低有关神经胶质瘤。分类标准,患者通过IDH突变和1 p / 19 codeletion(以及叔子突变),发现许多已知的变异与特定的神经胶质瘤子类型。分子集团确定了两个额外的小说区域:在D2HGDH变异相关与肿瘤和IDH突变与变体FAM20C附近肿瘤都IDH突变和1 p / 19codeletion。协会已经用于计算多基因风险评分,来估计相对和绝对的整体神经胶质瘤和风险特定的神经胶质瘤亚型的风险。多基因的概念模型及其风险潜在的临床效用,以及讨论发表了成人弥漫性神经胶质瘤多基因风险模型。对欧洲的人口。出版的神经胶质瘤多基因风险模型,我们表演遗传协会出版日期不推广在遗传血统,证明基因研究需要在更广泛的人群。

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