DNA mismatch repair proteins: scientific update and practical guide

被引：54
作者：
Bateman, Adrian C. [1 ]
机构：
[1] Univ Hosp Southampton NHS Fdn Trust, Cellular Pathol, Southampton SO16 6YD, Hants, England
来源：
JOURNAL OF CLINICAL PATHOLOGY | 2021年 / 74卷 / 04期
关键词：
DNA; genes; neoplasm; immunohistochemistry; colorectal neoplasms; carcinoma;
D O I：
10.1136/jclinpath-2020-207281
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
DNA mismatch repair (MMR) proteins are essential for the recognition and correction of sporadic genetic mutations that occur during DNA replication. Deficient MMR function (dMMR) leads to an increased risk of development of neoplasia. Identification of dMMR within tumours can suggest a high chance of the inherited cancer condition Lynch syndrome and predicts poor clinical response to certain conventional chemotherapies but an increased likelihood of response to immunotherapy. This review provides an update on the biology of MMR proteins, their encoding genes and mechanisms for the development of dMMR. This is followed by a discussion of the identification and significance of dMMR in routine clinical practice.
引用
收藏
页码：264 / 268
页数：5
相关论文
共 30 条
[1]   Three molecular pathways model colorectal carcinogenesis in Lynch syndrome [J].
Ahadova, Aysel ;
Gallon, Richard ;
Gebert, Johannes ;
Ballhausen, Alexej ;
Endris, Volker ;
Kirchner, Martina ;
Stenzinger, Albrecht ;
Burn, John ;
Doeberitz, Magnus von Knebel ;
Blaeker, Hendrik ;
Kloor, Matthias .
INTERNATIONAL JOURNAL OF CANCER, 2018, 143 (01) :139-150
[2]   Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer [J].
Andre, T. ;
Shiu, K-K ;
Kim, T. W. ;
Jensen, B., V ;
Jensen, L. H. ;
Punt, C. ;
Smith, D. ;
Garcia-Carbonero, R. ;
Benavides, M. ;
Gibbs, P. ;
de la Fouchardiere, C. ;
Rivera, F. ;
Elez, E. ;
Bendell, J. ;
Le, D. T. ;
Yoshino, T. ;
Van Cutsem, E. ;
Yang, P. ;
Farooqui, M. Z. H. ;
Marinello, P. ;
Diaz, L. A., Jr. .
NEW ENGLAND JOURNAL OF MEDICINE, 2020, 383 (23) :2207-2218
[3]   Neoadjuvant Therapy Induces Loss of MSH6 Expression in Colorectal Carcinoma [J].
Bao, Fei ;
Panarelli, Nicole C. ;
Rennert, Hanna ;
Sherr, David L. ;
Yantiss, Rhonda K. .
AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2010, 34 (12) :1798-1804
[4]   Molecules in cancer immunotherapy: benefits and side effects [J].
Bateman, Adrian C. .
JOURNAL OF CLINICAL PATHOLOGY, 2019, 72 (01) :20-24
[5]   Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer [J].
Carethers, John M. ;
Stoffel, Elena M. .
WORLD JOURNAL OF GASTROENTEROLOGY, 2015, 21 (31) :9253-9261
[6]   Update on the pathology, genetics and somatic landscape of sebaceous tumours [J].
Ferreira, Ingrid ;
Wiedemeyer, Katharina ;
Demetter, Pieter ;
Adams, David J. ;
Arends, Mark J. ;
Brenn, Thomas .
HISTOPATHOLOGY, 2020, 76 (05) :640-649
[7]   Immunohistochemistry for PMS2 and MSH6 alone can replace a four antibody panel for mismatch repair deficiency screening in colorectal adenocarcinoma [J].
Hall, Geoffrey ;
Clarkson, Adele ;
Shi, Amanda ;
Langford, Eileen ;
Leung, Helen ;
Eckstein, Robert P. ;
Gill, Anthony J. .
PATHOLOGY, 2010, 42 (05) :409-413
[8]   Colon and Endometrial Cancers With Mismatch Repair Deficiency Can Arise From Somatic, Rather Than Germline, Mutations [J].
Haraldsdottir, Sigurdis ;
Hampel, Heather ;
Tomsic, Jerneja ;
Frankel, Wendy L. ;
Pearlman, Rachel ;
de la Chapelle, Albert ;
Pritchard, Colin C. .
GASTROENTEROLOGY, 2014, 147 (06) :1308-+
[9]   The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors [J].
Huth, Cathrin ;
Kloor, Matthias ;
Voigt, Anita Y. ;
Bozukova, Gergana ;
Evers, Christina ;
Gaspar, Harald ;
Tariverdian, Mirjam ;
Schirmacher, Peter ;
Doeberitz, Magnus von Knebel ;
Blaker, Hendrik .
MODERN PATHOLOGY, 2012, 25 (06) :911-916
[10]   Heterogenous mismatch-repair status in colorectal cancer [J].
Joost, Patrick ;
Veurink, Nynke ;
Holck, Susanne ;
Klarskov, Louise ;
Bojesen, Anders ;
Harbo, Maria ;
Baldetorp, Bo ;
Rambech, Eva ;
Nilbert, Mef .
DIAGNOSTIC PATHOLOGY, 2014, 9
123