Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients

被引:0
|
作者
ER Thompson
SE Boyle
J Johnson
GL Ryland
S Sawyer
DY Choong
G Chenevix-Trench
AH Trainer
GJ Lindeman
G Mitchell
PA James
IG Campbell
机构
[1] Peter MacCallum Cancer Centre,
[2] Queensland Institute of Medical Research,undefined
[3] The University of Queensland,undefined
[4] Monash University,undefined
[5] The Royal Melbourne Hospital,undefined
[6] The Walter and Eliza Hall Institute of Medical Research,undefined
关键词
Ovarian Cancer; Ovarian Cancer Patient; High Resolution Melt; Missense Variant; Truncate Mutation;
D O I
10.1186/1897-4287-10-S2-A84
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [41] Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D
    Yang, Xin
    Song, Honglin
    Leslie, Goska
    Engel, Christoph
    Hahnen, Eric
    Auber, Bernd
    Horvath, Judit
    Kast, Karin
    Niederacher, Dieter
    Turnbull, Clare
    Houlston, Richard
    Hanson, Helen
    Loveday, Chey
    Dolinsky, Jill S.
    LaDuca, Holly
    Ramus, Susan J.
    Menon, Usha
    Rosenthal, Adam N.
    Jacobs, Ian
    Gayther, Simon A.
    Dicks, Ed
    Nevanlinna, Heli
    Aittomaeki, Kristiina
    Pelttari, Liisa M.
    Ehrencrona, Hans
    Borg, Ake
    Kvist, Anders
    Rivera, Barbara
    Hansen, Thomas V. O.
    Djursby, Malene
    Lee, Andrew
    Dennis, Joe
    Bowtell, David D.
    Traficante, Nadia
    Diez, Orland
    Balmana, Judith
    Gruber, Stephen B.
    Chenevix-Trench, Georgia
    Jensen, Allan
    Kjaer, Susanne K.
    Hogdall, Estrid
    Castera, Laurent
    Garber, Judy
    Janavicius, Ramunas
    Osorio, Ana
    Golmard, Lisa
    Vega, Ana
    Couch, Fergus J.
    Robson, Mark
    Gronwald, Jacek
    JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2020, 112 (12): : 1242 - 1250
  • [42] Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece
    Konstanta, I.
    Fostira, F.
    Apostolou, P.
    Stratikos, E.
    Kalfakakou, D.
    Kollia, P.
    Konstantopoulou, I.
    Yannoukakos, D.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 462 - 462
  • [43] Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece
    Konstanta, Irene
    Fostira, Florentia
    Apostolou, Paraskevi
    Stratikos, Efstratios
    Kalfakakou, Despoina
    Pampanos, Andreas
    Kollia, Panagoula
    Papadimitriou, Christos
    Konstantopoulou, Irene
    Yannoukakos, Drakoulis
    JOURNAL OF HUMAN GENETICS, 2018, 63 (11) : 1149 - 1158
  • [44] Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece
    Irene Konstanta
    Florentia Fostira
    Paraskevi Apostolou
    Efstratios Stratikos
    Despoina Kalfakakou
    Andreas Pampanos
    Panagoula Kollia
    Christos Papadimitriou
    Irene Konstantopoulou
    Drakoulis Yannoukakos
    Journal of Human Genetics, 2018, 63 : 1149 - 1158
  • [45] Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers
    Heidrun Gevensleben
    Verena Bossung
    Alfons Meindl
    Barbara Wappenschmidt
    Nikolaus de Gregorio
    Ana Osorio
    Atocha Romero
    Reinhard Buettner
    Birgid Markiefka
    Rita Katharina Schmutzler
    Virchows Archiv, 2014, 465 : 365 - 369
  • [46] Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers
    Gevensleben, Heidrun
    Bossung, Verena
    Meindl, Alfons
    Wappenschmidt, Barbara
    de Gregorio, Nikolaus
    Osorio, Ana
    Romero, Atocha
    Buettner, Reinhard
    Markiefka, Birgid
    Schmutzler, Rita Katharina
    VIRCHOWS ARCHIV, 2014, 465 (03) : 365 - 369
  • [47] Massively parallel functional analysis of missense variants in the breast/ovarian cancer gene RAD51C
    Montalban, Gemma
    Milano, Larissa
    Rodrigue, Amelie
    Coulombe, Yan
    Desjardins, Sylvie
    Dumont, Martine
    Joly-Beauparlant, Charles
    Soucy, Penny
    Masson, Jean-Yves
    Simard, Jacques
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 400 - 401
  • [48] Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility
    Vuorela, Mikko
    Pylkas, Katri
    Hartikainen, Jaana M.
    Sundfeldt, Karin
    Lindblom, Annika
    Wappling, Anna von Wachenfeldt
    Haanpaa, Maria
    Puistola, Ulla
    Rosengren, Annika
    Anttila, Maarit
    Kosma, Veli-Matti
    Mannermaa, Arto
    Winqvist, Robert
    BREAST CANCER RESEARCH AND TREATMENT, 2011, 130 (03) : 1003 - 1010
  • [49] Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility
    Mikko Vuorela
    Katri Pylkäs
    Jaana M. Hartikainen
    Karin Sundfeldt
    Annika Lindblom
    Anna von Wachenfeldt Wäppling
    Maria Haanpää
    Ulla Puistola
    Annika Rosengren
    Maarit Anttila
    Veli-Matti Kosma
    Arto Mannermaa
    Robert Winqvist
    Breast Cancer Research and Treatment, 2011, 130 : 1003 - 1010
  • [50] Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication
    Pelttari, L. M.
    Shimelis, H.
    Toiminen, H.
    Kvist, A.
    Torngren, T.
    Borg, A.
    Blomqvist, C.
    Butzow, R.
    Couch, F.
    Aittomaki, K.
    Nevanlinna, H.
    CLINICAL GENETICS, 2018, 93 (03) : 595 - 602