Publications by authors named "Sebastia Franch-Expósito"

17Publications

Copy-Number Alteration Burden Differentially Impacts Immune Profiles and Molecular Features of Hepatocellular Carcinoma.

Clin Cancer Res 2020 Dec 1;26(23):6350-6361. Epub 2020 Sep 1.

Liver Cancer Translational Research Group, Liver Unit, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Universitat de Barcelona, Barcelona, Catalonia, Spain.

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December 2020

Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.

Gastroenterology 2020 Jul 14;159(1):227-240.e7. Epub 2020 Mar 14.

Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Hospital Clínic, Universitat de Barcelona, Barcelona, Spain. Electronic address:

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July 2020

CNApp, a tool for the quantification of copy number alterations and integrative analysis revealing clinical implications.

Elife 2020 Jan 15;9. Epub 2020 Jan 15.

Gastrointestinal and Pancreatic Oncology Team, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Universitat de Barcelona, Barcelona, Spain.

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January 2020

Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer.

Int J Cancer 2020 03 6;146(6):1568-1577. Epub 2019 Nov 6.

Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, University of Barcelona, Barcelona, Spain.

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March 2020

The landscape of genomic copy number alterations in colorectal cancer and their consequences on gene expression levels and disease outcome.

Mol Aspects Med 2019 10 6;69:48-61. Epub 2019 Aug 6.

Gastrointestinal and Pancreatic Oncology Group, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), CIBEREHD, Barcelona, Spain; Unitat de Biologia Cel·lular i Genètica Mèdica, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Electronic address:

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October 2019

Somatic mutational signatures in polyposis and colorectal cancer.

Mol Aspects Med 2019 10 23;69:62-72. Epub 2019 May 23.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

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October 2019

Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition.

Mol Aspects Med 2019 10 1;69:27-40. Epub 2019 Apr 1.

Gastroenterology Department, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Spain. Electronic address:

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October 2019

Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples.

BMC Bioinformatics 2018 06 14;19(1):224. Epub 2018 Jun 14.

Gastroenterology Department, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD, University of Barcelona, Barcelona, Spain.

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June 2018

Zeb1 in Stromal Myofibroblasts Promotes -Driven Development of Pancreatic Cancer.

Cancer Res 2018 05 28;78(10):2624-2637. Epub 2018 Feb 28.

Gastrointestinal and pancreatic oncology research group, Hospital Clinic, Barcelona, CiberEHD, Spain.

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May 2018

GeMSTONE: orchestrated prioritization of human germline mutations in the cloud.

Nucleic Acids Res 2017 07;45(W1):W207-W214

Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853, USA.

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July 2017

POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.

Oncotarget 2017 Apr;8(16):26732-26743

Gastroenterology Department, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Catalonia, Spain.

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April 2017

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

Eur J Hum Genet 2016 10 11;24(10):1501-5. Epub 2016 May 11.

Gastroenterology Department, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Spain.

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October 2016