The germline mutations of the CHEK2 gene are associated with an increased risk of polycythaemia vera

被引:8
|
作者
Janiszewska, Hanna [1 ]
Bak, Aneta [1 ]
Hartwig, Martyna [1 ]
Kuliszkiewicz-Janus, Malgorzata [2 ]
Calbecka, Malgorzata [3 ]
Jazwiec, Bozena [2 ]
Kuliczkowski, Kazimierz [2 ]
Haus, Olga [1 ,2 ]
机构
[1] Nicolaus Copernicus Univ Torun, Coll Med Bydgoszcz, Fac Med, Dept Clin Genet, Wroclaw, Poland
[2] Med Univ, Dept Haematol Oncol & Bone Marrow Transplant, Wroclaw, Poland
[3] Municipal Hosp, Dept Haematol, Torun, Poland
关键词
polycythaemia vera; congenital CHEK2 mutations; MYELOPROLIFERATIVE NEOPLASMS; JAK2; DIAGNOSIS; CANCER; V617F;
D O I
10.1111/bjh.13559
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:150 / 152
页数:3
相关论文
共 50 条
  • [1] Germline mutations in the CHEK2 kinase gene are associated with an increased risk of bladder cancer
    Zlowocka, Elzbieta
    Cybulski, Cezary
    Gorski, Bohdan
    Debniak, Tadeusz
    Slojewski, Marcin
    Wokolorczyk, Dominika
    Serrano-Fernandez, Pablo
    Matyjasik, Joanna
    van de Wetering, Thierry
    Sikorski, Andrzej
    Scott, Rodney J.
    Lubinski, Jan
    INTERNATIONAL JOURNAL OF CANCER, 2008, 122 (03) : 583 - 586
  • [2] A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer
    Cybulski, C.
    Wokolorczyk, D.
    Huzarski, T.
    Byrski, T.
    Gronwald, J.
    Gorski, B.
    Debniak, T.
    Masojc, B.
    Jakubowska, A.
    Gliniewicz, B.
    Sikorski, A.
    Stawicka, M.
    Godlewski, D.
    Kwias, Z.
    Antczak, A.
    Krajka, K.
    Lauer, W.
    Sosnowski, M.
    Sikorska-Radek, P.
    Bar, K.
    Klijer, R.
    Zdrojowy, R.
    Malkiewicz, B.
    Borkowski, A.
    Borkowski, T.
    Szwiec, M.
    Narod, S. A.
    Lubinski, J.
    JOURNAL OF MEDICAL GENETICS, 2006, 43 (11) : 863 - 866
  • [3] CHEK2 gene somatic loss in breast tumors from carriers of germline CHEK2 mutations
    Iyevleva, A.
    Aleksakhina, S.
    Sokolenko, A.
    Baskina, S.
    Venina, A.
    Anisimova, E.
    Bizin, I. V.
    Ivantsov, A. O.
    Imyanitov, E. N.
    ANNALS OF ONCOLOGY, 2021, 32 : S1232 - S1232
  • [4] Breast Cancer Risk Associated With CHEK2 Mutations
    Mahon, Suzanne M.
    ONCOLOGY NURSING FORUM, 2014, 41 (06) : 692 - 694
  • [5] Mutations in CHEK2 associated with prostate cancer risk
    Dong, XY
    Wang, L
    Taniguchi, K
    Wang, XS
    Cunningham, JM
    McDonnell, SK
    Qian, CP
    Marks, AF
    Slager, SL
    Peterson, BJ
    Smith, BI
    Cheville, JC
    Blute, ML
    Jacobsen, SJ
    Schaid, DJ
    Tindall, DJ
    Thibodeau, SN
    Liu, WG
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (02) : 270 - 280
  • [6] Germline CHEK2 mutations in patients with myeloid neoplasms
    Lucie Freiman
    Lise Larcher
    Giulia Tueur
    Nadia Vasquez
    Mélanie Da Costa
    Matthieu Duchmann
    Emmanuel Raffoux
    Lionel Adès
    Pierre Fenaux
    Jean Soulier
    Nicolas Duployez
    Emmanuelle Clappier
    Marie Sébert
    Leukemia, 2024, 38 (4) : 908 - 911
  • [7] Germline CHEK2 mutations in patients with myeloid neoplasms
    Freiman, Lucie
    Larcher, Lise
    Tueur, Giulia
    Vasquez, Nadia
    Da Costa, Melanie
    Duchmann, Matthieu
    Raffoux, Emmanuel
    Ades, Lionel
    Fenaux, Pierre
    Soulier, Jean
    Duployez, Nicolas
    Clappier, Emmanuelle
    Sebert, Marie
    LEUKEMIA, 2024, 38 (04) : 908 - 911
  • [8] Germline CHEK2 variants and risk of lymphoma
    Boddicker, Nicholas J.
    Mwangi, Raphael
    Robinson, Dennis P.
    Rosenthal, Allison C.
    Habermann, Thomas M.
    Feldman, Andrew L.
    Rimsza, Lisa M.
    King, Rebecca L.
    Larson, Melissa C.
    Gysbers, Brianna J.
    Ansell, Stephen M.
    Abeykoon, Jithma P.
    Nowakowski, Grzegorz S.
    Witzig, Thomas E.
    Novak, Anne J.
    Slager, Susan L.
    Cerhan, James R.
    CANCER RESEARCH, 2023, 83 (07)
  • [9] Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations?
    Cezary Cybulski
    Dominika Wokołorczyk
    Józef Kładny
    Grzegorz Kurzwaski
    Joanna Suchy
    Ewa Grabowska
    Jacek Gronwald
    Tomasz Huzarski
    Tomasz Byrski
    Bohdan Górski
    Tadeusz Dȩbniak
    Steven A Narod
    Jan Lubiński
    European Journal of Human Genetics, 2007, 15 : 237 - 241
  • [10] Germline CHEK2 mutations and colorectal cancer risk:: different effects of a missense and truncating mutations?
    Cybulski, Cezary
    Wokolorczyk, Dominika
    Kladny, Jozef
    Kurzwaski, Grzegorz
    Suchy, Joanna
    Grabowska, Ewa
    Gronwald, Jacek
    Huzarski, Tomasz
    Byrski, Tomasz
    Gorski, Bohdan
    Debniak, Tadeusz
    Narod, Steven A.
    Lubinski, Jan
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (02) : 237 - 241