PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer

被引:30
|
作者
Peterlongo, Paolo [1 ,2 ]
Catucci, Irene [1 ,2 ]
Pasquini, Graziella [1 ]
Verderio, Paolo [3 ]
Peissel, Bernard [4 ]
Barile, Monica [5 ]
Varesco, Liliana [6 ]
Riboni, Mirko [2 ]
Fortuzzi, Stefano [7 ]
Manoukian, Siranoush [4 ]
Radice, Paolo [1 ,2 ]
机构
[1] Fdn IRCCS Ist Nazl Tumori, Dept Prevent & Predict Med, Unit Mol Bases Genet Risk & Genet Testing, Milan, Italy
[2] Fdn Ist FIRC Oncol Mol, IFOM, Milan, Italy
[3] Fdn IRCCS Ist Nazl Tumori, Unit Med Stat & Biometry, Milan, Italy
[4] Fdn IRCCS Ist Nazl Tumori, Unit Med Genet, Dept Prevent & Predict Med, Milan, Italy
[5] Ist Europeo Oncol, Div Canc Prevent & Genet, Milan, Italy
[6] Ist Nazl Ric Canc, Unit Hereditary Canc, I-16132 Genoa, Italy
[7] Cogentech, Consortium Genom Technol, Milan, Italy
关键词
PAB2; Familial breast cancer; Breast cancer risk; Pancreatic cancer risk; Truncating mutation; CRC; BRCA2-INTERACTING PROTEIN; GENES; WOMEN;
D O I
10.1007/s10549-010-1305-1
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
引用
收藏
页码:825 / 828
页数:4
相关论文
共 50 条
  • [31] Missense PALB2 germline variant disrupts nuclear localization of PALB2 in a patient with breast cancer
    Toh, Ming Ren
    Low, Chen Ee
    Chong, Siao Ting
    Chan, Sock Hoai
    Ishak, Nur Diana Binte
    Courtney, Eliza
    Kolinjivadi, Arun Mouli
    Rodrigue, Amelie
    Masson, Jean-Yves
    Ngeow, Joanne
    FAMILIAL CANCER, 2020, 19 (02) : 123 - 131
  • [32] Rare germline mutations in PALB2 and breast cancer risk: A population-based study
    Tischkowitz, Marc
    Capanu, Marinela
    Sabbaghian, Nelly
    Li, Lili
    Liang, Xiaolin
    Vallee, Maxime P.
    Tavtigian, Sean V.
    Concannon, Patrick
    Foulkes, William D.
    Bernstein, Leslie
    Bernstein, Jonine L.
    Begg, Colin B.
    HUMAN MUTATION, 2012, 33 (04) : 674 - 680
  • [33] Chemotherapy sensitivity in pancreatic neoplasms with PALB2 Gene mutations: First results of PALB2 pancreatic cancer study
    Cerda Serda, P.
    Martin Cullell, B.
    Castet, F.
    Pisa Gatell, A.
    Ribera Fernandez, P.
    Fernandez, J.
    Sauri Nadal, T.
    Pelegrin Mateo, F. J.
    Aguado Sorolla, M.
    Ramon Y Cajal, T.
    ANNALS OF ONCOLOGY, 2024, 35 : S149 - S150
  • [34] Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer
    Xiaohong R. Yang
    Lea Jessop
    Timothy Myers
    Laufey Amundadottir
    Ruth M. Pfeiffer
    William Wheeler
    Kristen M. Pike
    Jeff Yuenger
    Laurie Burdett
    Meredith Yeager
    Stephen J. Chanock
    Margaret A. Tucker
    Alisa M. Goldstein
    Familial Cancer, 2011, 10 : 545 - 548
  • [35] Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer
    Wong-Brown, Michelle W.
    Avery-Kiejda, Kelly A.
    Bowden, Nikola A.
    Scott, Rodney J.
    INTERNATIONAL JOURNAL OF CANCER, 2014, 134 (02) : 301 - 305
  • [36] Germline mutations of PALB2 gene in a sequential series of Chinese patients with breast cancer.
    Zhou, Jiaojiao
    Zhang, Kun
    Zhu, Xuan
    Deng, Mei
    Luo, Meng
    Xu, Chunjing
    Yu, Jie-Kai
    Chen, Yiding
    JOURNAL OF CLINICAL ONCOLOGY, 2017, 35
  • [37] Clinical Outcomes in Breast Cancer Patients with Underlying Germline PALB2 Mutations Treated with Radiation
    Shalaby, A.
    Jan, I.
    Ohri, N.
    Abou Yehia, Z.
    Toppmeyer, D.
    Haffty, B. G., Jr.
    INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS, 2024, 120 (02): : E331 - E332
  • [38] Olaparib for metastatic breast cancer in a patient with a germline PALB2 variant
    Sherko Kuemmel
    Hakima Harrach
    Rita K. Schmutzler
    Athina Kostara
    Katja Ziegler-Löhr
    Mark H. Dyson
    Ouafaa Chiari
    Mattea Reinisch
    npj Breast Cancer, 6
  • [39] A PALB2 germline mutation associated with hereditary breast cancer in Italy
    Laura Papi
    Anna Laura Putignano
    Caterina Congregati
    Irene Piaceri
    Ines Zanna
    Francesco Sera
    Doralba Morrone
    Maurizio Genuardi
    Domenico Palli
    Familial Cancer, 2010, 9 : 181 - 185
  • [40] Breast-Cancer Risk in Families with Mutations in PALB2
    Thomas, P. S.
    Brown, P. H.
    BREAST DISEASES, 2015, 26 (03): : 206 - 208