Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype

被引:10
|
作者
Segui, Nuria [1 ]
Navarro, Matilde [1 ]
Pineda, Marta [1 ]
Koeger, Nicole [2 ]
Bellido, Fernando [1 ]
Gonzalez, Sara [1 ]
Campos, Olga [1 ]
Iglesias, Silvia [1 ]
Valdes-Mas, Rafael [3 ]
Lopez-Doriga, Adriana [4 ,5 ]
Gut, Marta [6 ]
Blanco, Ignacio [1 ]
Lazaro, Conxi [1 ]
Capella, Gabriel [1 ]
Puente, Xose S. [3 ]
Plotz, Guido [2 ]
Valle, Laura [1 ]
机构
[1] IDIBELL, Hereditary Canc Program, Catalan Inst Oncol, Lhospitalet De Llobregat 08908, Spain
[2] Univ Klinikum Frankfurt, Med Klin 1, Biomed Res Lab, D-60590 Frankfurt, Germany
[3] Univ Oviedo, Dept Biochem & Mol Biol, Inst Univ Oncol, Oviedo, Spain
[4] IDIBELL, Catalan Inst Oncol, Unit Biomarkers & Susceptibil, Lhospitalet De Llobregat, Spain
[5] CIBERESP, Lhospitalet De Llobregat, Spain
[6] Fundacio Parc Cient Barcelona, Ctr Nacl Anal Genom, Barcelona, Spain
关键词
POLYPOSIS; GENE;
D O I
10.1136/gutjnl-2014-307084
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:355 / U187
页数:2
相关论文
共 50 条
  • [1] Whole exome sequencing in a family with familial colorectal cancer
    Helgadottir, Hafdis T.
    Lundin, Par
    Lindblom, Annika
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 915 - 915
  • [2] Risk of Colorectal Cancer for Carriers of Mutations in MUTYH, With and Without a Family History of Cancer
    Win, Aung Ko
    Dowty, James G.
    Cleary, Sean P.
    Kim, Hyeja
    Buchanan, Daniel D.
    Young, Joanne P.
    Clendenning, Mark
    Rosty, Christophe
    MacInnis, Robert J.
    Giles, Graham G.
    Boussioutas, Alex
    Macrae, Finlay A.
    Parry, Susan
    Goldblatt, Jack
    Baron, John A.
    Burnett, Terrilea
    Le Marchand, Loic
    Newcomb, Polly A.
    Haile, Robert W.
    Hopper, John L.
    Cotterchio, Michelle
    Gallinger, Steven
    Lindor, Noralane M.
    Tucker, Katherine M.
    Winship, Ingrid M.
    Jenkins, Mark A.
    GASTROENTEROLOGY, 2014, 146 (05) : 1208 - +
  • [3] Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas
    Brastianos, Priscilla K.
    Taylor-Weiner, Amaro
    Manley, Peter E.
    Jones, Robert T.
    Dias-Santagata, Dora
    Thorner, Aaron R.
    Lawrence, Michael S.
    Rodriguez, Fausto J.
    Bernardo, Lindsay A.
    Schubert, Laura
    Sunkavalli, Ashwini
    Shillingford, Nick
    Calicchio, Monica L.
    Lidov, Hart G. W.
    Taha, Hala
    Martinez-Lage, Maria
    Santi, Mariarita
    Storm, Phillip B.
    Lee, John Y. K.
    Palmer, James N.
    Adappa, Nithin D.
    Scott, R. Michael
    Dunn, Ian F.
    Laws, Edward R., Jr.
    Stewart, Chip
    Ligon, Keith L.
    Hoang, Mai P.
    Van Hummelen, Paul
    Hahn, William C.
    Louis, David N.
    Resnick, Adam C.
    Kieran, Mark W.
    Getz, Gad
    Santagata, Sandro
    NATURE GENETICS, 2014, 46 (02) : 161 - U100
  • [4] Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas
    Priscilla K Brastianos
    Amaro Taylor-Weiner
    Peter E Manley
    Robert T Jones
    Dora Dias-Santagata
    Aaron R Thorner
    Michael S Lawrence
    Fausto J Rodriguez
    Lindsay A Bernardo
    Laura Schubert
    Ashwini Sunkavalli
    Nick Shillingford
    Monica L Calicchio
    Hart G W Lidov
    Hala Taha
    Maria Martinez-Lage
    Mariarita Santi
    Phillip B Storm
    John Y K Lee
    James N Palmer
    Nithin D Adappa
    R Michael Scott
    Ian F Dunn
    Edward R Laws
    Chip Stewart
    Keith L Ligon
    Mai P Hoang
    Paul Van Hummelen
    William C Hahn
    David N Louis
    Adam C Resnick
    Mark W Kieran
    Gad Getz
    Sandro Santagata
    Nature Genetics, 2014, 46 : 161 - 165
  • [5] Exome Sequencing Identifies Novel Candidate Mutations in Idiopathic
    Moldovan, F.
    Patten, S. A.
    Fendri, K.
    Girard, S.
    Zaouter, C.
    Edery, P.
    RESEARCH INTO SPINAL DEFORMITIES 8, 2012, 176 : 453 - 453
  • [6] Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype
    Altassan, Ruqaiah
    Al Saud, Haya
    Masoodi, Tariq Ahmad
    Al Dosssari, Haya
    Khalifa, Ola
    Al-Zaidan, Hamad
    Sakati, Nadia
    Rhabeeni, Zuhair
    Al-Hassnan, Zuhair
    Binamer, Yousef
    Alhashemi, Nadia
    Wade, William
    Al-Zayed, Zayed
    Al-Sayed, Moeen
    Al-Muhaizea, Mohamed A.
    Meyer, Brian
    Al-Owain, Mohammad
    Wakil, Salma M.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (04) : 1009 - 1016
  • [7] Whole exome sequencing identifies novel candidate mutations in a Chinese family with left ventricular noncompaction
    Zhou, Ye
    Qian, Zhiyong
    Yang, Jing
    Zhu, Meng
    Hou, Xiaofeng
    Wang, Yao
    Wu, Hongping
    Zou, Jiangang
    MOLECULAR MEDICINE REPORTS, 2018, 17 (05) : 7325 - 7330
  • [8] DYT16 Revisited: Exome Sequencing Identifies PRKRA Mutations in a European Dystonia Family
    Zech, Michael
    Castrop, Florian
    Schormair, Barbara
    Jochim, Angela
    Wieland, Thomas
    Gross, Nadine
    Lichtner, Peter
    Peters, Annette
    Gieger, Christian
    Meitinger, Thomas
    Strom, Tim M.
    Oexle, Konrad
    Haslinger, Bernhard
    Winkelmann, Juliane
    MOVEMENT DISORDERS, 2014, 29 (12) : 1504 - 1510
  • [9] Exome sequencing identifies germline mutations in African American families with hereditary prostate cancer
    Wang, Zemin
    Qian, Chiping
    Eledet, Elisa M.
    Washington, George
    Zabaieta, Jovanny
    Hu, Jennifer J.
    Mandel, Diptasri
    Liu, Wanguo
    CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2014, 23 (11)
  • [10] Whole exome sequencing of canine cancer cell lines identifies common oncogenic mutations
    Duval, D.
    Das, S.
    Idate, R.
    Gustafson, D.
    EUROPEAN JOURNAL OF CANCER, 2018, 103 : E86 - E86