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From APC to the genetics of hereditary and familial colon cancer syndromes
Human Molecular Genetics ( IF 3.5 ) Pub Date : 2021-07-20 , DOI: 10.1093/hmg/ddab208
Alisa P Olkinuora 1, 2 , Päivi T Peltomäki 1, 2 , Lauri A Aaltonen 1, 2, 3 , Kristiina Rajamäki 1, 3
Affiliation  

Hereditary colorectal cancer (CRC) syndromes attributable to high penetrance mutations represent 9–26% of young-onset CRC cases. The clinical significance of many of these mutations is understood well enough to be used in diagnostics and as an aid in patient care. However, despite the advances made in the field, a significant proportion of familial and early-onset cases remains molecularly uncharacterized and extensive work is still needed to fully understand the genetic nature of CRC susceptibility. With the emergence of next-generation sequencing and associated methods, several predisposition loci have been unraveled, but validation is incomplete. Individuals with cancer-predisposing mutations are currently enrolled in life-long surveillance, but with the development of new treatments, such as cancer vaccinations, this might change in the not so distant future for at least some individuals. For individuals without a known cause for their disease susceptibility, prevention and therapy options are less precise. Herein, we review the progress achieved in the last three decades with a focus on how CRC predisposition genes were discovered. Furthermore, we discuss the clinical implications of these discoveries and anticipate what to expect in the next decade.

中文翻译:

从 APC 到遗传性和家族性结肠癌综合征的遗传学

由高外显率突变引起的遗传性结直肠癌 (CRC) 综合征占年轻发病 CRC 病例的 9-26%。许多这些突变的临床意义已被充分了解,可用于诊断和患者护理。然而,尽管在该领域取得了进展,但仍有很大一部分家族性和早发性病例在分子上没有特征,仍需要大量工作来充分了解 CRC 易感性的遗传性质。随着下一代测序和相关方法的出现,一些易感基因座已被揭开,但验证不完整。具有癌症易感突变的个体目前被纳入终身监测,但随着新疗法的发展,例如癌症疫苗接种,至少对于某些人来说,这可能会在不远的将来发生变化。对于没有已知疾病易感性原因的个体,预防和治疗选择不太精确。在此,我们回顾了过去三年中取得的进展,重点关注如何发现 CRC 易感基因。此外,我们讨论了这些发现的临床意义,并预测了未来十年的预期。
更新日期:2021-07-20
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