当前位置: X-MOL 学术CA: Cancer J. Clin. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Recent progress in Lynch syndrome and other familial colorectal cancer syndromes
CA: A Cancer Journal for Clinicians ( IF 254.7 ) Pub Date : 2018-02-27 , DOI: 10.3322/caac.21448
Patrick M. Boland 1 , Matthew B. Yurgelun 2 , C. Richard Boland 3
Affiliation  

The current understanding of familial colorectal cancer was limited to descriptions of affected pedigrees until the early 1990s. A series of landscape‐altering discoveries revealed that there were distinct forms of familial cancer, and most were related to genes previously not known to be involved in human disease. This review largely focuses on advances in our understanding of Lynch syndrome because of the unique relationship of this disease to defective DNA mismatch repair and the clinical implications this has for diagnostics, prevention, and therapy. Recent advances have occurred in our understanding of the epidemiology of this disease, and the advent of broad genetic panels has altered the approach to germline and somatic diagnoses for all of the familial colorectal cancer syndromes. Important advances have been made toward a more complete mechanistic understanding of the pathogenesis of neoplasia in the setting of Lynch syndrome, and these advances have important implications for prevention. Finally, paradigm‐shifting approaches to treatment of Lynch‐syndrome and related tumors have occurred through the development of immune checkpoint therapies for hypermutated cancers. CA Cancer J Clin 2018;68:217–231. © 2018 American Cancer Society.

中文翻译:

Lynch综合征等家族性结直肠癌综合征的研究进展

目前对家族性结直肠癌的理解仅限于对受影响谱系的描述,直到 1990 年代初。一系列改变景观的发现表明存在不同形式的家族性癌症,并且大多数与以前未知的与人类疾病有关的基因有关。由于该疾病与 DNA 错配修复缺陷的独特关系以及这对诊断、预防和治疗的临床意义,本综述主要关注我们对 Lynch 综合征理解的进展。我们对这种疾病的流行病学的理解取得了最新进展,广泛的基因组的出现改变了所有家族性结直肠癌综合征的种系和体细胞诊断方法。在对 Lynch 综合征环境中瘤形成的发病机制的更完整机制理解方面取得了重要进展,这些进展对预防具有重要意义。最后,通过开发针对超突变癌症的免疫检查点疗法,出现了治疗林奇综合征和相关肿瘤的范式转变方法。CA Cancer J Clin 2018;68:217-231。© 2018 美国癌症协会。
更新日期:2018-02-27
down
wechat
bug