Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis

被引:12
|
作者
Franch-Exposito, Sebastia [1 ]
Esteban-Jurado, Clara [1 ]
Garre, Pilar [2 ]
Quintanilla, Isabel [1 ]
Duran-Sanchon, Saray [1 ]
Diaz-Gay, Marcos [1 ]
Bonjoch, Laia [1 ]
Cuatrecasas, Miriam [3 ]
Samper, Esther [1 ]
Munoz, Jenifer [1 ]
Ocana, Teresa [1 ]
Carballal, Sabela [1 ]
Lopez-Ceron, Maria [1 ]
Castells, Antoni [1 ]
Vila-Casadesus, Maria [4 ]
Derdak, Sophia [5 ]
Laurie, Steven [5 ]
Beltran, Sergi [5 ]
Carvajal, Jaime [6 ]
Bujanda, Luis [7 ]
Ruiz-Ponte, Clara [8 ]
Camps, Jordi [1 ]
Gironella, Meritxell [1 ]
Jose Lozano, Juan [4 ]
Balaguer, Francesc [1 ]
Cubiella, Joaquin [9 ]
Caldes, Trinidad [2 ]
Castellvi-Bel, Sergi [1 ]
机构
[1] Univ Barcelona, CIBER Hepat & Digest Dis, August Pi i Sunyer Biomed Res Inst, Hosp Clin Barcelona,Gastroenterol Dept, E-08036 Barcelona, Spain
[2] Hosp Clin San Carlos, Hlth Res Inst, Mol Oncol Lab, Madrid 28040, Spain
[3] Hosp Clin Barcelona, Dept Pathol, E-08036 Barcelona, Spain
[4] CIBER Hepat & Digest Dis, Bioinformat Platform, Barcelona 08036, Spain
[5] Natl Ctr Genom Anal, Sci Pk Barcelona, Barcelona 08028, Spain
[6] Pablo de Olavide Univ, CSIC, Andalusian Reg Govt, Andalusian Dev Biol Inst, Seville 41013, Spain
[7] Univ Basque Country, UPV EHU, CIBER Hepat & Digest Dis, Hosp Donostiae Biodonostia Inst,Gastroenterol Dep, San Sebastian, Spain
[8] Univ Santiago de Compostela, Hosp Clin Univ, Genom Med Grp, CIBER Rare Dis,Galician Publ Fdn Genom Med FPGMX, Santiago De Compostela 15706, Spain
[9] Complexo Hosp Univ Ourense, Ourense Biomed Res Inst, Gastroenterol Dept, Orense 32005, Spain
关键词
WHOLE-EXOME; GENE;
D O I
10.1016/j.jgg.2017.12.001
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
引用
收藏
页码:41 / 45
页数:5
相关论文
共 50 条
  • [21] A genome-wide assessment of rare copy number variants in colorectal cancer
    Li, Zhenli
    Yu, Dan
    Gan, Meifu
    Shan, Qiaonan
    Yin, Xiaoyang
    Tang, Shunli
    Zhang, Shuai
    Shi, Yongyong
    Zhu, Yimin
    Lai, Maode
    Zhang, Dandan
    ONCOTARGET, 2015, 6 (28) : 26411 - 26423
  • [22] COMBINATORIAL ANALYSIS OF EXOME SEQUENCING DATA AND COPY NUMBER VARIANTS IN CONGENITAL HEART DISEASE PATIENTS
    Fotiou, Elisavet
    Williams, Simon
    Keavney, Bernard
    HEART, 2017, 103 : A115 - A116
  • [23] Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition
    Gambale, Antonella
    Russo, Roberta
    Andolfo, Immacolata
    Quaglietta, Lucia
    De Rosa, Gianluca
    Contestabile, Valentina
    De Martino, Lucia
    Genesio, Rita
    Pignataro, Piero
    Giglio, Sabrina
    Capasso, Mario
    Parasole, Rosanna
    Pasini, Barbara
    Iolascon, Achille
    CLINICAL GENETICS, 2019, 96 (04) : 359 - 365
  • [24] A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data
    Ramakrishnan Rajagopalan
    Jill R. Murrell
    Minjie Luo
    Laura K. Conlin
    Genome Medicine, 12
  • [25] A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data
    Rajagopalan, Ramakrishnan
    Murrell, Jill R.
    Luo, Minjie
    Conlin, Laura K.
    GENOME MEDICINE, 2020, 12 (01)
  • [26] Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing
    Lee, Ning-Yuan
    Hum, Melissa
    Ong, Pei-Yi
    Myint, Matthew Khine
    Ong, Enya H. W.
    Low, Kar-Perng
    Li, Zheng
    Goh, Boon-Cher
    Tay, Joshua K.
    Loh, Kwok-Seng
    Chua, Melvin L. K.
    Lee, Soo-Chin
    Khor, Chiea-Chuen
    Lee, Ann S. G.
    CANCERS, 2022, 14 (15)
  • [27] Whole-exome sequencing identifies a high frequency of germline deleterious variants in cancer predisposition genes in individuals with osteosarcoma
    Koster, Roelof
    Zhu, Bin
    Yeager, Meredith
    Dean, Michael
    Gianferante, Matthew
    Song, Lei
    Sampson, Joshua
    Gastier-Foster, Julie
    Gorlick, Richard
    de Toledo, Silvia Regina Caminada
    Petrilli, Antonio
    Patino-Garcia, Ana
    Lecanda, Fernando
    Serra, Massimo
    Hattinger, Claudia
    Picci, Piero
    Scotlandi, Katia
    Flanagan, Adrienne
    Tirabosco, Roberto
    Amary, Maria
    Kurucu, Nilgun
    Ilhan, Inci Ergurhan
    Sari, Neriman
    Ballinger, Mandy
    Thomas, David
    Barkauskas, Donald
    Hicks, Belynda
    Tucker, Margaret
    Caporaso, Neil
    Hoover, Robert
    Chanock, Stephen
    Savage, Sharon
    Mirabello, Lisa
    CANCER RESEARCH, 2017, 77
  • [28] ECOLE: Learning to call copy number variants on whole exome sequencing data
    Mandiracioglu, Berk
    Ozden, Furkan
    Kaynar, Gun
    Yilmaz, Mehmet Alper
    Alkan, Can
    Cicek, A. Ercument
    NATURE COMMUNICATIONS, 2024, 15 (01)
  • [29] ECOLE: Learning to call copy number variants on whole exome sequencing data
    Berk Mandiracioglu
    Furkan Ozden
    Gun Kaynar
    Mehmet Alper Yilmaz
    Can Alkan
    A. Ercument Cicek
    Nature Communications, 15
  • [30] Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing
    de Ligt, Joep
    Boone, Philip M.
    Pfundt, Rolph
    Vissers, Lisenka E. L. M.
    Richmond, Todd
    Geoghegan, Joel
    O'Moore, Kathleen
    de Leeuw, Nicole
    Shaw, Christine
    Brunner, Han G.
    Lupski, James R.
    Veltman, Joris A.
    Hehir-Kwa, Jayne Y.
    HUMAN MUTATION, 2013, 34 (10) : 1439 - 1448