Marta Pineda

Marta Pineda

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Marta Pineda

Marta Pineda

Publications by authors named "Marta Pineda"

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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Genet Med 2019 Jul 24. Epub 2019 Jul 24.

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41436-019-0596-9DOI Listing
July 2019

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Ulrike Faust Ute Felbor Irene Feroce Miriam Fine Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Pérez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 May 27. Epub 2019 May 27.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23818DOI Listing
May 2019

Germline variation in O-methylguanine-DNA methyltransferase (MGMT) as cause of hereditary colorectal cancer.

Cancer Lett 2019 Apr 21;447:86-92. Epub 2019 Jan 21.

Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Spain. Electronic address:

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http://dx.doi.org/10.1016/j.canlet.2019.01.019DOI Listing
April 2019

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

Mol Aspects Med 2019 Apr 1. 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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http://dx.doi.org/10.1016/j.mam.2019.03.004DOI Listing
April 2019

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.

Hered Cancer Clin Pract 2019 28;17. Epub 2019 Feb 28.

4Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, part of Oslo University Hospital, Olso, Norway.

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-019-0106-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394091PMC
February 2019

Cancer Risks for PMS2-Associated Lynch Syndrome.

J Clin Oncol 2018 Oct 30;36(29):2961-2968. Epub 2018 Aug 30.

Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Manon Suerink, Frederik J. Hes, Hans F.A. Vasen, Juul T. Wijnen, and Maartje Nielsen, Leiden University Medical Center, Leiden; Encarna Gomez Garcia, Maastricht University Medical Center, Maastricht; Nicoline Hoogerbrugge, Arjen R. Mensenkamp, and Liesbeth Spruijt, Radboud University Medical Center, Nijmegen; Tom G.W. Letteboer, University Medical Center, Utrecht; Theo A.M. van Os and Egbert J.W. Redeker, Academic Medical Center, Amsterdam; Maran J.W. Olderode-Berends and Yvonne J. Vos, University of Groningen; University Medical Center Groningen, Groningen; Anja Wagner, Erasmus Medical Center, Rotterdam, the Netherlands; Stefan Aretz, University of Bonn; University Hospital Bonn, Bonn; Christoph Engel, Leipzig University; Medizinisch Genetisches Zentrum Bayerstr, Leipzig; Magnus von Knebel Doeberitz, University of Heidelberg; German Cancer Research Center, Heidelberg; Pål Møller, University of Witten-Herdecke, Wuppertal; Nils Rahner, Heinrich-Heine-University, Düsseldorf; Hans K. Schackert, Technische Universität Dresden, Dresden; Verena Steinke-Lange, Medizinische Klinik und Poliklinik IV Campus Innenstadt, Klinikum der Universität München, Munich, Germany; Pål Møller, The Norwegian Radium Hospital; Oslo University Hospital, Oslo, Norway; Inge Bernstein, Hvidovre Hospital, Hvidovre, and Aalborg University Hospital, Aalborg, Denmark; Daniel D. Buchanan, Mark Clendenning, John L. Hopper, Mark A. Jenkins, Christophe Rosty, Ingrid Winship, and Aung Ko Win, The University of Melbourne; Daniel D. Buchanan, Ingrid Winship, and Aung Ko Win, Royal Melbourne Hospital, Parkville, Melbourne, Victoria; Rodney Scott, University of Newcastle, Newcastle, New South Wales, Australia; Albert de la Chapelle, Heather L. Hampel, Rachel Pearlman, and Leigha Senter, The Ohio State University Comprehensive Cancer Center, Columbus, OH; Gabriel Capella and Marta Pineda, Institut d'Investigació Biomédica de Bellvitge, Barcelona, Spain; Steven Gallinger, Mount Sinai Hospital, Toronto, Ontario, Canada; Jane C. Figueiredo and Robert Haile, Cedars-Sinai Medical Center, Los Angeles, CA; Loic Le Marchand, University of Hawaii Cancer Center, Honolulu, HI; Annika Lindblom, Karolinska Institutet; Karolinska University Hospital, Stockholm, Sweden; Noralane M. Lindor, Mayo Clinic Arizona, Scottsdale, AZ; Polly A. Newcomb, Fred Hutchinson Cancer Research Center; University of Washington, Seattle, WA; and Stephen Thibodeau, Mayo Clinic, Rochester, MN.

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http://ascopubs.org/doi/10.1200/JCO.2018.78.4777
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http://dx.doi.org/10.1200/JCO.2018.78.4777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349460PMC
October 2018

Primary constitutional MLH1 epimutations: a focal epigenetic event.

Br J Cancer 2018 10 4;119(8):978-987. Epub 2018 Oct 4.

Hereditary Cancer Program, Catalan Institute of Oncology-Bellvitge Biomedical Research Institute (ICO-IDIBELL),ONCOBELL, CIBERONC, Av.Gran Via de l'Hospitalet 199-203, L'Hospitalet de Llobregat, 08908, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41416-018-0019-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203851PMC
October 2018

Comprehensive molecular characterisation of hereditary non-polyposis colorectal tumours with mismatch repair proficiency.

Eur J Cancer 2014 Jul 16;50(11):1964-72. Epub 2014 May 16.

Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejca.2014.04.022DOI Listing
July 2014

GALNT12 is not a major contributor of familial colorectal cancer type X.

Hum Mutat 2014 Jan 17;35(1):50-2. Epub 2013 Oct 17.

Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.

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http://dx.doi.org/10.1002/humu.22454DOI Listing
January 2014

Telomere length and genetic anticipation in Lynch syndrome.

PLoS One 2013 23;8(4):e61286. Epub 2013 Apr 23.

Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0061286PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3634050PMC
November 2013

Usefulness of epithelial cell adhesion molecule expression in the algorithmic approach to Lynch syndrome identification.

Hum Pathol 2013 Mar 29;44(3):412-6. Epub 2012 Sep 29.

Department of Pathology, Hospital Universitari Germans Trias i Pujol, C/ Ctra de Canyet s/n, 08916 Badalona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.humpath.2012.06.006DOI Listing
March 2013

MLH1 methylation screening is effective in identifying epimutation carriers.

Eur J Hum Genet 2012 Dec 4;20(12):1256-64. Epub 2012 Jul 4.

Hereditary Cancer Program, Catalan Institute of Oncology, ICO-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1038/ejhg.2012.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499751PMC
December 2012

Comprehensive functional assessment of MLH1 variants of unknown significance.

Hum Mutat 2012 Nov 12;33(11):1576-88. Epub 2012 Jul 12.

Hereditary Cancer Program, Catalan Institute of Oncology, ICO-IDIBELL, Hospitalet de Llobregat, Spain.

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http://dx.doi.org/10.1002/humu.22142DOI Listing
November 2012

Detection of genetic alterations in hereditary colorectal cancer screening.

Mutat Res 2010 Nov 27;693(1-2):19-31. Epub 2009 Nov 27.

Translational Research Laboratory and Cancer Genetic Counseling Program, Av. Gran Via de l'Hospitalet 199-203, 08907 L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.mrfmmm.2009.11.002DOI Listing
November 2010

Studies on the function of TM20, a transmembrane protein present in cereal embryos.

Planta 2005 Sep 19;222(1):80-90. Epub 2005 Apr 19.

Institut de Biologia Molecular de Barcelona, CSIC, Jordi Girona 18, 08034 Barcelona, Spain.

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http://link.springer.com/10.1007/s00425-005-1519-3
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http://dx.doi.org/10.1007/s00425-005-1519-3DOI Listing
September 2005

The genetics of heteromeric amino acid transporters.

Physiology (Bethesda) 2005 Apr;20:112-24

Department of Biochemistry and Molecular Biology, Faculty of Biology and Institut de Recerca Biomedica de Barcelona, Barcelona Science Park, University of Barcelona, Spain.

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http://www.physiology.org/doi/10.1152/physiol.00051.2004
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http://dx.doi.org/10.1152/physiol.00051.2004DOI Listing
April 2005

The amino acid transporter asc-1 is not involved in cystinuria.

Kidney Int 2004 Oct;66(4):1453-64

Department of Biochemistry and Molecular Biology, Faculty of Biology, University of Barcelona, Spain.

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http://dx.doi.org/10.1111/j.1523-1755.2004.00908.xDOI Listing
October 2004