THE CLINICAL AND BIOLOGICAL LANDSCAPE OF CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY: AN IRRDC STUDY

被引:0
|
作者
Ercan, Ayse [1 ,2 ]
Das, Anirban [3 ]
Fernandez, Nicholas [1 ,4 ]
Chang, Yuan [1 ,4 ]
Negm, Logine [1 ,4 ]
Bianchi, Vanessa [1 ]
Stengs, Lucie [1 ]
Edwards, Melissa [1 ]
Villani, Anita [3 ]
Malkin, David [3 ]
Aronson, Melyssa [5 ]
Bouffet, Eric [3 ]
Tabori, Uri
机构
[1] Hosp Sick Children, Arthur & Sonia Labatt Brain Tumour Res Ctr, Toronto, ON, Canada
[2] Univ Toronto, Inst Med Sci, Toronto, ON, Canada
[3] Hosp Sick Children, Haematol Oncol, Toronto, ON, Canada
[4] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada
[5] Mt Sinai Hosp, Zane Cohen Ctr Digest Dis, Toronto, ON, Canada
关键词
D O I
暂无
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
O236
引用
收藏
页码:S134 / S134
页数:1
相关论文
共 50 条
  • [21] High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency
    Ghorbanoghli, Zeinab
    van Kouwen, Mariette
    Versluys, Birgitta
    Bonnet, Delphine
    Devalck, Christine
    Tinat, Julie
    Januszkiewicz-Lewandowska, Danuta
    Costas, Consuelo Calvino
    Cottereau, Edouard
    Hardwick, James C. H.
    Wimmer, Katharina
    Brugieres, Laurence
    Colas, Chrystelle
    Vasen, Hans F. A.
    JOURNAL OF MEDICAL GENETICS, 2023, 60 (07) : 679 - 684
  • [22] Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency
    Toledano, Helen
    Orenstein, Naama
    Sofrin, Efrat
    Ruhrman-Shahar, Noa
    Amarilyo, Gil
    Basel-Salmon, Lina
    Shuldiner, Alan R.
    Smirin-Yosef, Pola
    Aronson, Melyssa
    Al-tarrah, Hibs
    Bazak, Lili
    Gonzaga-Jauregui, Claudia
    Tabori, Uri
    Wimmer, Katharina
    Goldberg, Yael
    JOURNAL OF MEDICAL GENETICS, 2020, 57 (07) : 505 - 508
  • [23] Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency
    Guerrini-Rousseau, Lea
    Pasmant, Eric
    Muleris, Martine
    Abbou, Samuel
    Adam-De-Beaumais, Tiphaine
    Brugieres, Laurence
    Cabaret, Odile
    Colas, Chrystelle
    Cotteret, Sophie
    Decq, Philippe
    Dufour, Christelle
    Guillerm, Erell
    Rouleau, Etienne
    Varlet, Pascale
    Zili, Saima
    Vidaud, Dominique
    Grill, Jacques
    JOURNAL OF MEDICAL GENETICS, 2024, 61 (02) : 158 - 162
  • [24] Pediatric Systemic Lupus Erythematosus as a manifestation of Constitutional mismatch repair deficiency
    Toledano, H.
    Sofrin, E.
    Orenstein, N.
    Shahar, N. Rurman
    Amarilyo, G.
    Basel-Salmon, L.
    Shuldiner, A.
    Smirin-Yosef, P.
    El Lev, N.
    Aronson, M.
    AlTarrah, H.
    Wimmer, K.
    Tabori, U.
    Bazak, L.
    Gonzaga-Jauregui, C.
    Goldberg, Y.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1598 - 1598
  • [25] Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency
    Siju, Jose
    Sahu, Arpita
    Bhattacharya, Kajari
    Prasad, Maya
    Sarin, Rajiv
    Gupta, Tejpal
    INDIAN JOURNAL OF RADIOLOGY AND IMAGING, 2024, : 562 - 565
  • [26] Mismatch repair deficiency testing in clinical practice
    Buza, Natalia
    Ziai, James
    Hui, Pei
    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2016, 16 (05) : 591 - 604
  • [27] Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)
    Leenders, Erika K. S. M.
    Westdorp, Harm
    Bruggemann, Roger J.
    Loeffen, Jan
    Kratz, Christian
    Burn, John
    Hoogerbrugge, Nicoline
    Jongmans, Marjolijn C. J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 (10) : 1417 - 1423
  • [28] Constitutional Mismatch Repair Deficiency Presenting in Childhood as Three Simultaneous Malignancies
    Walter, Andrew W.
    Ennis, Sara
    Best, Hunter
    Vaughn, Cecily P.
    Swensen, Jeffrey J.
    Openshaw, Amanda
    Gripp, Karen W.
    PEDIATRIC BLOOD & CANCER, 2013, 60 (11) : E135 - E136
  • [29] Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)
    Erika K. S. M. Leenders
    Harm Westdorp
    Roger J. Brüggemann
    Jan Loeffen
    Christian Kratz
    John Burn
    Nicoline Hoogerbrugge
    Marjolijn C. J. Jongmans
    European Journal of Human Genetics, 2018, 26 : 1417 - 1423
  • [30] Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
    Durno, Carol
    Ercan, Ayse Bahar
    Bianchi, Vanessa
    Edwards, Melissa
    Aronson, Melyssa
    Galati, Melissa
    Atenafu, Eshetu G.
    Abebe-Campino, Gadi
    Al-Battashi, Abeer
    Alharbi, Musa
    Azad, Vahid Fallah
    Baris, Hagit N.
    Basel, Donald
    Bedgood, Raymond
    Bendel, Anne
    Ben-Shachar, Shay
    Blumenthal, Deborah T.
    Blundell, Maude
    Bornhorst, Miriam
    Bronsema, Annika
    Cairney, Elizabeth
    Rhode, Sara
    Caspi, Shani
    Chamdin, Aghiad
    Chiaravalli, Stefano
    Constantini, Shlomi
    Crooks, Bruce
    Das, Anirban
    Dvir, Rina
    Farah, Roula
    Foulkes, William D.
    Frenkel, Zehavit
    Gallinger, Bailey
    Gardner, Sharon
    Gass, David
    Ghalibafian, Mithra
    Gilpin, Catherine
    Goldberg, Yael
    Goudie, Catherine
    Hamid, Syed Ahmer
    Hampel, Heather
    Hansford, Jordan R.
    Harlos, Craig
    Hijiya, Nobuko
    Hsu, Saunders
    Kamihara, Junne
    Kebudi, Rejin
    Knipstein, Jeffrey
    Koschmann, Carl
    Kratz, Christian
    JOURNAL OF CLINICAL ONCOLOGY, 2021, 39 (25) : 2779 - +