[1]李宏岩,胡玉红,于晓迪.错配修复基因在Lynch综合征及相关卵巢癌的研究[J].医学信息,2020,33(18):36-38.[doi:10.3969/j.issn.1006-1959.2020.18.011]
 LI Hong-yan,HU Yu-hong,YU Xiao-di.Study on Mismatch Repair Genes in Lynch Syndrome and Related Ovarian Cancer[J].Medical Information,2020,33(18):36-38.[doi:10.3969/j.issn.1006-1959.2020.18.011]
点击复制

错配修复基因在Lynch综合征及相关卵巢癌的研究()

医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
33卷
期数:
2020年18期
页码:
36-38
栏目:
综述
出版日期:
2020-09-15

文章信息/Info

Title:
Study on Mismatch Repair Genes in Lynch Syndrome and Related Ovarian Cancer
文章编号:
1006-1959(2020)18-0036-03
作者:
李宏岩胡玉红于晓迪
(佳木斯大学附属第一医院妇产科1,心内科2,黑龙江 佳木斯 154002)
Author(s):
LI Hong-yanHU Yu-hongYU Xiao-di
(Department of Obstetrics and Gynecology1,Department of Cardiology2,the First Affiliated Hospital of Jiamusi University,Jiamusi154002,Heilongjiang,China)
关键词:
错配修复基因Lynch综合征卵巢癌
Keywords:
Mismatch repair geneLynch syndromeOvarian cancer
分类号:
R735.3;R737.31
DOI:
10.3969/j.issn.1006-1959.2020.18.011
文献标志码:
A
摘要:
错配修复(MMR)基因突变是一种可引发Lynch综合征(LS)的致癌机制。随着医疗科技的不断发展,错配修复基因缺失及突变在结直肠癌和子宫内膜癌中已被广泛研究,然而在卵巢癌(OC)中研究较少。由于对MMR基因突变检测不能完全普及,因此选取合适的方式对怀疑其存在MMR基因突变的人群进行预筛查至关重要。尽管女性发展为卵巢癌人数较少,并伴有可识别的种系突变,但在这一特定人群中,个性化预防和个性化治疗的潜力巨大。本文旨在为选择合适的筛查遗传性卵巢癌的方式做前期的探讨,对错配修复基因MLH1、PMS2、MSH2、 MSH6在卵巢癌中的研究进展做一概述。
Abstract:
Mutations in the mismatch repair (MMR) gene are a carcinogenic mechanism that can cause Lynch syndrome (LS). With the continuous development of medical technology, mismatch repair gene deletions and mutations have been widely studied in colorectal cancer and endometrial cancer, but less research in ovarian cancer (OC). As the detection of MMR gene mutations cannot be fully universal, it is very important to select an appropriate method for pre-screening people suspected of having MMR gene mutations. Although the number of women who develop ovarian cancer is relatively small and is accompanied by identifiable germline mutations, in this specific population, the potential for personalized prevention and personalized treatment is huge. This article aims to make a preliminary discussion on the selection of suitable screening methods for hereditary ovarian cancer, and to give an overview of the research progress of mismatch repair genes MLH1, PMS2, MSH2, and MSH6 in ovarian cancer.

参考文献/References:

[1]Wong HL,Christie M,Gately L,et al.Mismatch repair deficiency assessment by immunohistochemistry:for Lynch syndrome screening and beyond[J].Future Oncol,2018(14):2725-2739.[2]Ryan NAJ,Evans DG,Green K,et al.Pathological features andclinical behavior of Lynch syndrome -associated ovarian cancer[J].Gynecol Oncol,2017,144(3):491-495.[3]Siegel RL,Miller KD,Jemal A.Cancer statistics,2018[J].Ca Cancer J Clin,2017(67):7.[4]Shih IeM,Kurman RJ.Ovarian tumorigenesis:a proposed model based on morphological and molecular genetic analy-sis[J].Am J Pathol 2004(164):1511-1518.[5]Prat J,D’Angelo E,Espinosa I.Ovarian carcinomas:at least fivedifferent diseases with distinct histological features and molecular genetics[J].Hum Pathol,2018(80):11-27. [6]Prat J.Ovarian carcinomas:five distinct diseases with differentorigins,genetic alterations,and clinicopathological features[J].Virchows Arch,2012(460):237-249.[7]Biller LH,Syngal S,Yurgelun MB.Recent advances in Lynch syndrome[J].Fam Cancer,2019(18):211-219.[8]Duraturo F,Liccardo R,De Rosa M,et al.Genetics,diagnosis andtreatment of Lynch syndrome:Old lessons and current challenges[J].Oncol Lett,2019,17(3):3048-3054.[9]Javier García-Pérez,María Felicitas López-Cima,Beatriz Pérez-Gómez,et al.Mortality due to tumours of the digestive system in towns lying in the vicinity of metal production and processing installations[J].ence of the Total Environment,2010,408(16):3102-3112.[10]Moreira L,Balaguer F,Lindor N,et al.Identification of Lynch syndrome among patients with colorectal cancer[J].JAMA,2012,308(15):1555-1565.[11]Morak M,Kasbauer S,Kerscher M,et al.Loss of MSH2 and MSH6due to heterozygous germline defects in MSH3 and MSH6[J].FamCancer,2017,16(4):491-500.[12]de Barros AC,Takeda AAS,Dreyer TR,et al.DNA mismatch repairproteins MLH1 and PMS2 can be imported to the nucleus by aclassical nuclear import pathway[J].Biochimie,2018(146):87-96.[13]Poulogiannis G,Frayling IM,Arends MJ.DNA mismatch repair defificiency in sporadic colorectal cancer and Lynch syndrome[J].Histopathology,2010(56):167-179.[14]Stojic L,Mojas N,Cejka P,et al.Mismatch repair-dependent G2 checkpoint induced by low doses of SN1 type methylating agents requires the ATR kinase[J].Genes Dev,2004(18):1331-1344.[15]Sameer A,Nissar S,Fatima K.Mismatch repair pathway:molecules,functions,and role in colorectal carcinogenesis[J].Eur J Cancer Prev,2014(23):246-257. [16]Martin LP,Hamilton TC,Schilder RJ.Platinum resistance:the role of DNA repair pathways[J].Clin Cancer Res,2008(14):1291-1295.[17]Bartosch C,Clarke B,Bosse T.Gynaecological neoplasms in commonfamilial syndromes(Lynch and HBOC)[J].Pathology,2018,50(2):222-237.[18]Mills AM,Longacre TA.Lynch Syndrome Screening in theGynecologic Tract:Current State of the Art[J].Am J Surg Pathol,2016,40(4):e35-e44.[19]Moldovan R,Keating S,Clancy T.The impact of risk-reducinggynaecological surgery in premenopausal women at high risk ofendometrial and ovarian cancer due to Lynch syndrome[J].FamCancer,2015,14(1):51-60.[20]Lu KH,Dinh M,Kohlmann W,et al.Gynecologic cancer as a’sentinel cancer’ for women with hereditary nonpolyposis colorectal cancer syndrome[J].Obstet Gynecol,2005,105(3):569-574.[21]Sinicrope FA.Lynch Syndrome-Associated Colorectal Cancer [J].N Engl J Med,2018,379(8):764-773.[22]王甜甜,张蓉.林奇综合征与妇科肿瘤[J].国际妇产科学杂志,2016,43(5):497-501.[23]Helder-Woolderink JM,Blok EA,Vasen HF,et al.Ovarian cancer inLynch syndrome;a systematic review[J].Eur J Cancer,2016(55):65-73.[24]Chalmers ZR,Connelly CF,Fabrizio D,et al.Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden[J].Genome Med,2017,9(1):34.

相似文献/References:

[1]王 露,陈思敏,赵苏苏,等.子宫内膜样子宫内膜癌中错配修复基因表达与临床病理及相关基因表达的关系[J].医学信息,2020,33(14):61.[doi:10.3969/j.issn.1006-1959.2020.14.019]
 WANG Lu,CHEN Si-min,ZHAO Su-su,et al.Relationship Between Mismatch Repair Gene Expression and Clinicopathology and Related Gene Expression in Endometrioid Endometrial Carcinoma[J].Medical Information,2020,33(18):61.[doi:10.3969/j.issn.1006-1959.2020.14.019]

更新日期/Last Update: 1900-01-01