Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition

被引：0
|
作者：
E. Santana dos Santos
S. M. Caputo
L. Castera
M. Gendrot
A. Briaux
M. Breault
S. Krieger
P. K. Rogan
E. J. Mucaki
L. J. Burke
I. Bièche
C. Houdayer
D. Vaur
D. Stoppa-Lyonnet
M. A. Brown
F. Lallemand
E. Rouleau
机构：
[1] Cancer Institute of the State of São Paulo - ICESP,Department of Oncology, Center for Translational Oncology
[2] Institut Curie,Service de Génétique
[3] CLCC François Baclesse,Laboratoire de Biologie et de Génétique du Cancer
[4] INSERM 1079 Centre Normand de Génomique et de MédecinePersonnalisée,Department of Biochemistry
[5] Schulich School of Medicine and Dentistry,School of Chemistry and Molecular Biosciences
[6] University of Western Ontario,undefined
[7] Université Paris Descartes,undefined
[8] The University of Queensland,undefined
[9] Gustave Roussy,undefined
[10] A.C.Camargo Cancer Center,undefined
来源：
Breast Cancer Research and Treatment | 2018年 / 168卷
关键词：
BRCA1/2 non-coding variants; Hereditary breast and/or ovarian cancer (HBOC); BRCA1/2 transcription regulation; Breast and/or ovarian cancer risk;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：311 / 325
页数：14
相关论文
共 50 条
  • [41] BRCA1/2 testing in hereditary breast and ovarian cancer families: Impact on relationships
    Biesecker, BB
    McInerney-Leo, A
    Thompson, RE
    Hadley, D
    Kase, R
    Giambarresi, T
    Lerman, C
    Struewing, J
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 319 - 319
  • [42] A spectrum of BRCA1 and BRCA2 germline deleterious variants in ovarian cancer in Russia
    Andrey Kechin
    Ulyana Boyarskikh
    Alexey Barinov
    Alexander Tanas
    Svetlana Kazakova
    Anastasia Zhevlova
    Evgeniy Khrapov
    Sergey Subbotin
    Olga Mishukova
    Tatiana Kekeeva
    Irina Demidova
    Maxim Filipenko
    Breast Cancer Research and Treatment, 2023, 197 : 387 - 395
  • [43] A spectrum of BRCA1 and BRCA2 germline deleterious variants in ovarian cancer in Russia
    Kechin, Andrey
    Boyarskikh, Ulyana
    Barinov, Alexey
    Tanas, Alexander
    Kazakova, Svetlana
    Zhevlova, Anastasia
    Khrapov, Evgeniy
    Subbotin, Sergey
    Mishukova, Olga
    Kekeeva, Tatiana
    Demidova, Irina
    Filipenko, Maxim
    BREAST CANCER RESEARCH AND TREATMENT, 2023, 197 (02) : 387 - 395
  • [44] Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic
    Martin, AM
    Blackwood, MA
    Antin-Ozerkis, D
    Shih, HA
    Calzone, K
    Colligon, TA
    Seal, S
    Collins, N
    Stratton, MR
    Weber, BL
    Nathanson, KL
    JOURNAL OF CLINICAL ONCOLOGY, 2001, 19 (08) : 2247 - 2253
  • [45] Identification of seven new BRCA1 germline mutations in Italian breast and breast ovarian cancer families
    Montagna, M
    Santacatterina, M
    Corneo, B
    Menin, C
    Serova, O
    Lenoir, GM
    ChiecoBianchi, L
    DAndrea, E
    CANCER RESEARCH, 1996, 56 (23) : 5466 - 5469
  • [46] BRCA1 and BRCA2 Sequence Variants in Chinese Breast Cancer Families
    Zhi, Xiangcheng
    Szabo, Csilla
    Chopin, Sandrine
    Suter, Nicola
    Wang, Qing-Sheng
    Ostrander, Elaine A.
    Sinilnikova, Olga M.
    Lenoir, Gilbert M.
    Goldgar, David
    Shi, Yu-Rong
    HUMAN MUTATION, 2002, 20 (06) : 474
  • [47] Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families
    Ikeda, N
    Miyoshi, Y
    Yoneda, K
    Shiba, E
    Sekihara, Y
    Kinoshita, M
    Noguchi, S
    INTERNATIONAL JOURNAL OF CANCER, 2001, 91 (01) : 83 - 88
  • [48] BRCA1 germline mutations in Sicilian breast and/or ovarian cancer families and their implications for genetic counseling
    Calo, V.
    Agnese, V.
    Corsale, S.
    Bruno, L.
    Augello, C.
    Gregorio, V.
    Cascio, S.
    Gullo, A.
    Gargano, G.
    Barbera, F.
    La Paglia, L.
    Terrasi, M.
    Schiro, V.
    Calcara, D.
    Adamo, B.
    Morello, V.
    Tomasino, R. M.
    Bazan, V.
    Russo, A.
    ANNALS OF ONCOLOGY, 2006, 17 : VII144 - VII144
  • [49] Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families
    Hamann, U
    Haner, M
    Stosiek, U
    Bastert, G
    Scott, RJ
    JOURNAL OF MEDICAL GENETICS, 1997, 34 (11) : 884 - 888
  • [50] Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2
    Elze, Lisa
    van der Post, Rachel S.
    Vos, Janet R.
    Mensenkamp, Arjen R.
    Naga, Samhita Pamidimarri
    Hampstead, Juliet E.
    Vermeulen, Emma
    Oorsprong, Michiel
    Hofste, Tom
    Simons, Michiel
    Nagtegaal, Iris D.
    Hoogerbrugge, Nicoline
    de Voer, Richarda M.
    Ligtenberg, Marjolijn J. L.
    JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2024, 116 (12): : 1904 - 1913
12345