Clinical and molecular markers guide the genetics of pheochromocytoma and paraganglioma

IF 9.7 1区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Biochimica et biophysica acta. Reviews on cancer Pub Date : 2024-06-21 DOI:10.1016/j.bbcan.2024.189141
Alberto Cascón, Mercedes Robledo
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Abstract

Over the past two decades, research into the genetic susceptibility behind pheochromocytoma and paraganglioma (PPGL) has surged, ranking them among the most heritable tumors. Massive sequencing combined with careful patient selection has so far identified more than twenty susceptibility genes, leading to an over-detection of variants of unknown significance (VUS) that require precise molecular markers to determine their pathogenic role. Moreover, some PPGL patients remain undiagnosed, possibly due to mutations in regulatory regions of already known genes or mutations in undiscovered genes. Accurate classification of VUS and identification of new genes require well-defined clinical and molecular markers that allow effective genetic diagnosis of most PPGLs.

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临床和分子标记指导嗜铬细胞瘤和副神经节瘤的遗传学研究。
过去二十年来,对嗜铬细胞瘤和副神经节瘤(PPGL)遗传易感性的研究突飞猛进,使其跻身于遗传性最强的肿瘤之列。迄今为止,通过大规模测序和对患者的仔细筛选,已经确定了二十多个易感基因,导致了意义不明变异(VUS)的过度检测,需要精确的分子标记才能确定其致病作用。此外,一些 PPGL 患者仍未确诊,这可能是由于已知基因的调控区发生了突变或未发现的基因发生了突变。VUS 的准确分类和新基因的鉴定需要定义明确的临床和分子标记,以便对大多数 PPGL 进行有效的基因诊断。
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来源期刊
Biochimica et biophysica acta. Reviews on cancer
Biochimica et biophysica acta. Reviews on cancer 医学-生化与分子生物学
CiteScore
17.20
自引率
0.00%
发文量
138
审稿时长
33 days
期刊介绍: Biochimica et Biophysica Acta (BBA) - Reviews on Cancer encompasses the entirety of cancer biology and biochemistry, emphasizing oncogenes and tumor suppressor genes, growth-related cell cycle control signaling, carcinogenesis mechanisms, cell transformation, immunologic control mechanisms, genetics of human (mammalian) cancer, control of cell proliferation, genetic and molecular control of organismic development, rational anti-tumor drug design. It publishes mini-reviews and full reviews.
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