Lynch syndrome: toward an increasingly complex picture. The case of PMS2

被引：0
|
作者：
Calvello, Mariarosaria [1 ]
Bonanni, Bernardo [1 ]
机构：
[1] IRCCS, European Inst Oncol, Div Canc Prevent & Genet, IEO, Milan, Italy
来源：
EUROPEAN JOURNAL OF CANCER PREVENTION | 2023年 / 32卷 / 05期
关键词：
HETEROZYGOUS MUTATIONS;
D O I：
10.1097/CEJ.0000000000000795
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
引用
收藏
页码：413 / 414
页数：2
相关论文
共 50 条
  • [41] Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers
    Goverde, A.
    Spaander, M. C. W.
    Nieboer, D.
    van den Ouweland, A. M. W.
    Dinjens, W. N. M.
    Dubbink, H. J.
    Tops, C. J.
    ten Broeke, S. W.
    Bruno, M. J.
    Hofstra, R. M. W.
    Steyerberg, E. W.
    Wagner, A.
    FAMILIAL CANCER, 2018, 17 (03) : 361 - 370
  • [42] Germline Mutations in MLH1 Leading to Isolated Loss of PMS2 Expression in Lynch Syndrome: Implications for Diagnostics in the Clinic
    Silva, Felipe C. C.
    Torrezan, Giovana Tardin
    Ferreira, Jose R. O.
    Oliveira, Ligia P.
    Begnami, Maria D. F. S.
    Aguiar Junior, Samuel
    Carraro, Dirce M.
    AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2017, 41 (06) : 861 - 864
  • [43] Conventional Screening Criteria May Miss a High Proportion of Lynch Syndrome Patients with Endometrial Carcinoma Due to PMS2 Loss
    Djordjevic, B.
    Broaddus, R. R.
    MODERN PATHOLOGY, 2012, 25 : 266A - 266A
  • [44] Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers
    A. Goverde
    M. C. W. Spaander
    D. Nieboer
    A. M. W. van den Ouweland
    W. N. M. Dinjens
    H. J. Dubbink
    C. J. Tops
    S. W. ten Broeke
    M. J. Bruno
    R. M. W. Hofstra
    E. W. Steyerberg
    A. Wagner
    Familial Cancer, 2018, 17 : 361 - 370
  • [45] Conventional Screening Criteria May Miss a High Proportion of Lynch Syndrome Patients with Endometrial Carcinoma Due to PMS2 Loss
    Djordjevic, B.
    Broaddus, R. R.
    LABORATORY INVESTIGATION, 2012, 92 : 266A - 266A
  • [46] PMS2基因突变Lynch Ⅱ综合征一例
    尚可为
    赵刚
    中华全科医师杂志, 2015, 14 (05) : 389 - 390
  • [47] Germline mutation and protein expression analysis of mismatch repair genes MSH6 and PMS2 in Malaysian Lynch syndrome patients
    Mohd Nizam Zahary
    Gurjeet Kaur
    Muhammad Radzi Abu Hassan
    Ahmad Shanwani Mohd Sidek
    Harjinder Singh
    Lee Yeong Yeh
    Ravindran Ankathil
    International Journal of Colorectal Disease, 2014, 29 : 261 - 262
  • [48] Germline mutation and protein expression analysis of mismatch repair genes MSH6 and PMS2 in Malaysian Lynch syndrome patients
    Zahary, Mohd Nizam
    Kaur, Gurjeet
    Abu Hassan, Muhammad Radzi
    Sidek, Ahmad Shanwani Mohd
    Singh, Harjinder
    Yeh, Lee Yeong
    Ankathil, Ravindran
    INTERNATIONAL JOURNAL OF COLORECTAL DISEASE, 2014, 29 (02) : 261 - 262
  • [49] Cancer Risks for PMS2-Associated Lynch Syndrome
    ten Broeke, Sanne W.
    van der Klift, Heleen M.
    Tops, Carli M. J.
    Aretz, Stefan
    Bernstein, Inge
    Buchanan, Daniel D.
    de la Chapelle, Albert
    Capella, Gabriel
    Clendenning, Mark
    Engel, Christoph
    Gallinger, Steven
    Gomez Garcia, Encarna
    Figueiredo, Jane C.
    Haile, Robert
    Hampel, Heather L.
    Hopper, John L.
    Hoogerbrugge, Nicoline
    Doeberitz, Magnus von Knebel
    Le Marchand, Loic
    Letteboer, Tom G. W.
    Jenkins, Mark A.
    Lindblom, Annika
    Lindor, Noralane M.
    Mensenkamp, Arjen R.
    Moller, Pal
    Newcomb, Polly A.
    van Os, Theo A. M.
    Pearlman, Rachel
    Pineda, Marta
    Rahner, Nils
    Redeker, Egbert J. W.
    Olderode-Berends, Maran J. W.
    Rosty, Christophe
    Schackert, Hans K.
    Scott, Rodney
    Senter, Leigha
    Spruijt, Liesbeth
    Steinke-Lange, Verena
    Suerink, Manon
    Thibodeau, Stephen
    Vos, Yvonne J.
    Wagner, Anja
    Winship, Ingrid
    Hes, Frederik J.
    Vasen, Hans F. A.
    Wijnen, Juul T.
    Nielsen, Maartje
    Win, Aung Ko
    JOURNAL OF CLINICAL ONCOLOGY, 2018, 36 (29) : 2961 - +
  • [50] Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome
    Rahner, Nils
    Friedrichs, Nicolaus
    Wehner, Maria
    Steinke, Verena
    Aretz, Stefan
    Friedl, Waltraut
    Buettner, Reinhard
    Mangold, Elisabeth
    Propping, Peter
    Walldorf, Constanze
    ACTA ONCOLOGICA, 2007, 46 (06) : 763 - 769
12345