Germline loss-of-function variants in the BARD1 gene are associated with familial breast cancer

被引：0
|
作者：
Weber-Lassalle, N. [1 ]
Weber-Lassalle, K. [1 ]
Borde, J. [1 ]
Neidhardt, G. [1 ]
Ernst, C. [1 ]
Bluemcke, B. [1 ]
Klonowska, K. [2 ]
Volk, A. E. [3 ]
Kubisch, C. [3 ]
Baber, R. [4 ]
Engel, C. [4 ]
Kozlowski, P. [2 ]
Hahnen, E. [1 ]
Schmutzler, R. K. [1 ]
Hauke, J. [1 ]
机构：
[1] Univ Hosp Cologne, Ctr Familial Breast & Ovarian Canc, Cologne, Germany
[2] Polish Acad Sci, Inst Bioorgan Chem, Dept Mol Genet, Poznan, Poland
[3] Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany
[4] Univ Leipzig, LIFE Leipzig Res Ctr Civilizat Dis, Leipzig, Germany
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P12.031C
引用
收藏
页码：402 / 403
页数：2
相关论文
共 50 条
  • [31] Bioinformatics Analysis of Expression and Alterations of BARD1 in Breast Cancer
    Chen, Yong-Zi
    Zuo, Duo
    Ren, Hai-Ling
    Fan, Sai-Jun
    Ying, Guoguang
    TECHNOLOGY IN CANCER RESEARCH & TREATMENT, 2019, 18
  • [32] Germline mutation of the BARD1 ankyrin domain in a non-BRCA1/2 breast cancer family.
    Debrakeleer, S.
    De Greve, J.
    Kracj, M.
    Sermijn, E.
    Fontaine, C.
    Goelen, G.
    Bonduelle, M.
    Novakovic, S.
    Teugels, E.
    BREAST CANCER RESEARCH AND TREATMENT, 2006, 100 : S184 - S184
  • [33] Cancer predisposing BARD1 mutations in breast–ovarian cancer families
    Magdalena Ratajska
    Ewelina Antoszewska
    Anna Piskorz
    Izabela Brozek
    Åke Borg
    Hanna Kusmierek
    Wojciech Biernat
    Janusz Limon
    Breast Cancer Research and Treatment, 2012, 131 : 89 - 97
  • [34] Identification and characterization of missense alterations in the BRCA1 associated RING domain (BARD1) gene in breast and ovarian cancer
    Sauer, MK
    Andrulis, IL
    JOURNAL OF MEDICAL GENETICS, 2005, 42 (08) : 633 - 638
  • [35] Germline mutations of BRCA1-associated RING domain (BARD1) gene in breast and/or ovarian families negative for BRCA1 and 2 alterations
    C Ghimenti
    E Sensi
    D Iandolo
    G Cipollini
    S Ricci
    PF Conte
    G Bevilacqua
    MA Caligo
    Breast Cancer Research, 2 (Suppl 1)
  • [36] Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations
    Suszynska, Malwina
    Kozlowski, Piotr
    GENES, 2020, 11 (07) : 1 - 18
  • [37] Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion
    Trivellin, Giampaolo
    Daly, Adrian F.
    Hernandez-Ramirez, Laura C.
    Araldi, Elisa
    Tatsi, Christina
    Dale, Ryan K.
    Fridell, Gus
    Mittal, Arjun
    Faucz, Fabio R.
    Iben, James R.
    Li, Tianwei
    Vitali, Eleonora
    Stojilkovic, Stanko S.
    Kamenicky, Peter
    Villa, Chiara
    Baussart, Bertrand
    Chittiboina, Prashant
    Toro, Camilo
    Gahl, William A.
    Eugster, Erica A.
    Naves, Luciana A.
    Jaffrain-Rea, Marie-Lise
    de Herder, Wouter W.
    Neggers, Sebastian J. C. M. M.
    Petrossians, Patrick
    Beckers, Albert
    Lania, Andrea G.
    Mains, Richard E.
    Eipper, Betty A.
    Stratakis, Constantine A.
    FRONTIERS IN ENDOCRINOLOGY, 2023, 14
  • [38] Frequent BRCA1/2 and BARD1 germline mutations in triple-negative breast cancer patients.
    De Greve, Jacques
    De Brakeleer, Sylvia
    Desmedt, Christine
    Joris, Sofie
    Sotiriou, Christos
    Piccart-Gebhart, Martine J.
    Pauwels, Ingrid
    Teugels, Erik
    JOURNAL OF CLINICAL ONCOLOGY, 2014, 32 (15)
  • [39] Exploring prevalence of BARD1 pathogenic variant in breast cancer patients
    Valintelis, Albertas
    Drejeriene, Ieva
    Norvydas, Matas
    Gruode, Jurate
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 905 - 905
  • [40] A NOVEL CAUSE OF LYMPHOPENIA AND PRIMARY IMMUNODEFICIENCY ASSOCIATED WITH GERMLINE-ENCODED LOSS-OF-FUNCTION VARIANTS IN SGPL1
    Saucier, Nermina
    Abraham, Roshini
    Cooper, Megan A.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2017, 37 (02) : 227 - 227
12345