Publications by authors named "Mar Infante"

25Publications

A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer.

Breast 2019 Feb 29;43:91-96. Epub 2018 Nov 29.

Cancer Genetics Group, Institute of Genetics and Molecular Biology (UVa-CSIC), Sanz y Forés 3, 47003 Valladolid, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09609776183032
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http://dx.doi.org/10.1016/j.breast.2018.11.010DOI Listing
February 2019

Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer.

Mol Carcinog 2019 01 22;58(1):156-160. Epub 2018 Sep 22.

Cancer Genetics Group, Institute of Genetics and Molecular Biology (UVa-CSIC), Valladolid, Spain.

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http://dx.doi.org/10.1002/mc.22910DOI Listing
January 2019

Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants.

Breast Cancer Res Treat 2018 Aug 15;171(1):53-63. Epub 2018 May 15.

Grupo de Splicing y Cáncer, Instituto de Biología y Genética Molecular (IBGM), Consejo Superior de Investigaciones Científicas (CSIC-UVa), Sanz y Forés 3, 47003, Valladolid, Spain.

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http://dx.doi.org/10.1007/s10549-018-4826-7DOI Listing
August 2018

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:
Ana Osorio Roger L Milne Karoline Kuchenbaecker Tereza Vaclová Guillermo Pita Rosario Alonso Paolo Peterlongo Ignacio Blanco Miguel de la Hoya Mercedes Duran Orland Díez Teresa Ramón Y Cajal Irene Konstantopoulou Cristina Martínez-Bouzas Raquel Andrés Conejero Penny Soucy Lesley McGuffog Daniel Barrowdale Andrew Lee Brita Arver Johanna Rantala Niklas Loman Hans Ehrencrona Olufunmilayo I Olopade Mary S Beattie Susan M Domchek Katherine Nathanson Timothy R Rebbeck Banu K Arun Beth Y Karlan Christine Walsh Jenny Lester Esther M John Alice S Whittemore Mary B Daly Melissa Southey John Hopper Mary B Terry Saundra S Buys Ramunas Janavicius Cecilia M Dorfling Elizabeth J van Rensburg Linda Steele Susan L Neuhausen Yuan Chun Ding Thomas V O Hansen Lars Jønson Bent Ejlertsen Anne-Marie Gerdes Mar Infante Belén Herráez Leticia Thais Moreno Jeffrey N Weitzel Josef Herzog Kisa Weeman Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Giulietta Scuvera Bernardo Bonanni Frederique Mariette Sara Volorio Alessandra Viel Liliana Varesco Laura Papi Laura Ottini Maria Grazia Tibiletti Paolo Radice Drakoulis Yannoukakos Judy Garber Steve Ellis Debra Frost Radka Platte Elena Fineberg Gareth Evans Fiona Lalloo Louise Izatt Ros Eeles Julian Adlard Rosemarie Davidson Trevor Cole Diana Eccles Jackie Cook Shirley Hodgson Carole Brewer Marc Tischkowitz Fiona Douglas Mary Porteous Lucy Side Lisa Walker Patrick Morrison Alan Donaldson John Kennedy Claire Foo Andrew K Godwin Rita Katharina Schmutzler Barbara Wappenschmidt Kerstin Rhiem Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hans Jörg Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Andrea Gehrig Dominique Stoppa-Lyonnet Olga M Sinilnikova Sylvie Mazoyer Francesca Damiola Bruce Poppe Kathleen Claes Marion Piedmonte Kathy Tucker Floor Backes Gustavo Rodríguez Wendy Brewster Katie Wakeley Thomas Rutherford Trinidad Caldés Heli Nevanlinna Kristiina Aittomäki Matti A Rookus Theo A M van Os Lizet van der Kolk J L de Lange Hanne E J Meijers-Heijboer A H van der Hout Christi J van Asperen Encarna B Gómez Garcia Nicoline Hoogerbrugge J Margriet Collée Carolien H M van Deurzen Rob B van der Luijt Peter Devilee Edith Olah Conxi Lázaro Alex Teulé Mireia Menéndez Anna Jakubowska Cezary Cybulski Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska-Bieniek Oskar Th Johannsson Christine Maugard Marco Montagna Silvia Tognazzo Manuel R Teixeira Sue Healey Curtis Olswold Lucia Guidugli Noralane Lindor Susan Slager Csilla I Szabo Joseph Vijai Mark Robson Noah Kauff Liying Zhang Rohini Rau-Murthy Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Geschwantler Kaulich Georg Pfeiler Muy-Kheng Tea Andreas Berger Catherine M Phelan Mark H Greene Phuong L Mai Flavio Lejbkowicz Irene Andrulis Anna Marie Mulligan Gord Glendon Amanda Ewart Toland Anders Bojesen Inge Sokilde Pedersen Lone Sunde Mads Thomassen Torben A Kruse Uffe Birk Jensen Eitan Friedman Yael Laitman Shani Paluch Shimon Jacques Simard Douglas F Easton Kenneth Offit Fergus J Couch Georgia Chenevix-Trench Antonis C Antoniou Javier Benitez

PLoS Genet 2014 04 3;10(4):e1004256. Epub 2014 Apr 3.

Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain; Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain; Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain.

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http://dx.doi.org/10.1371/journal.pgen.1004256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974638PMC
April 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

Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.

Int J Colorectal Dis 2013 Sep 16;28(9):1195-201. Epub 2013 Apr 16.

Instituto de Biología y Genética Molecular, IBGM-UVA-CSIC, Valladolid, Spain.

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http://dx.doi.org/10.1007/s00384-013-1685-xDOI Listing
September 2013

Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays.

J Mol Diagn 2013 May 20;15(3):380-90. Epub 2013 Mar 20.

Cancer Genetics Laboratory, Institute of Biology and Molecular Genetics, University of Valladolid, Valladolid, Spain.

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http://dx.doi.org/10.1016/j.jmoldx.2013.02.003DOI Listing
May 2013

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.

Breast Cancer Res 2012 May 25;14(3):R87. Epub 2012 May 25.

Grupo de Splicing y Cáncer, Instituto de Biología y Genética Molecular (IBGM), Consejo Superior de Investigaciones Científicas (CSIC)-Universidad de Valladolid, Sanz y Forés 3, Valladolid 47003, Spain.

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http://dx.doi.org/10.1186/bcr3202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446350PMC
May 2012

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

Clin Cancer Res 2010 Mar 9;16(6):1957-67. Epub 2010 Mar 9.

Grupo de Genetica del Cancer, Instituto de Biologia y Genetica Molecular, Consejo Superior de Investigaciones Cientificas-Universidad de Valladolid, Valladolid, Spain.

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http://clincancerres.aacrjournals.org/cgi/doi/10.1158/1078-0
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http://dx.doi.org/10.1158/1078-0432.CCR-09-2564DOI Listing
March 2010

Two founder BRCA2 mutations predispose to breast cancer in young women.

Breast Cancer Res Treat 2010 Jul 1;122(2):567-71. Epub 2009 Dec 1.

Genética del Cáncer, Instituto de Biología y Genética Molecular (UVa-CSIC), Sanz y Forés s/n, 47003, Valladolid, Spain.

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http://dx.doi.org/10.1007/s10549-009-0661-1DOI Listing
July 2010

A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.

Eur J Cancer 2009 May 26;45(8):1485-93. Epub 2009 Feb 26.

Laboratorio Cáncer Hereditario, IBGM-CSIC, Universidad de Valladolid, C/ Sanz y Forés s/n, 47003 Valladolid, Spain.

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http://dx.doi.org/10.1016/j.ejca.2009.01.030DOI Listing
May 2009

Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes.

Nat Protoc 2007 ;2(1):237-46

Laboratorio de Genética del Cáncer, Instituto de Biología y Genética Molecular (IBGM), Universidad de Valladolid, Valladolid, Spain.

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http://dx.doi.org/10.1038/nprot.2006.482DOI Listing
June 2007

High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain).

J Hum Genet 2006 7;51(7):611-7. Epub 2006 Jun 7.

Laboratorio de Genética del Cáncer, Instituto de Biología y Genética Molecular, Universidad de Valladolid, Sanz y Forés s/n, 47003 Valladolid, Spain.

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http://dx.doi.org/10.1007/s10038-006-0404-7DOI Listing
August 2006

Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis.

Electrophoresis 2005 Jun;26(13):2539-52

Laboratorio de Genética del Cáncer, Instituto de Biología y Genética Molecular, Facultad de Medicina, Universidad de Valladolid, Valladolid, Spain.

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http://doi.wiley.com/10.1002/elps.200410425
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http://dx.doi.org/10.1002/elps.200410425DOI Listing
June 2005

High-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis.

Clin Chem 2004 Feb 18;50(2):313-20. Epub 2003 Dec 18.

Instituto de Biología y Genética Molecular, Facultad de Medicina, Universidad de Valladolid, Valladolid, Spain.

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http://dx.doi.org/10.1373/clinchem.2003.023614DOI Listing
February 2004

Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations.

Hum Mutat 2003 Apr;21(4):448

Instituto de Biologia y Genetica Molecular, Facultad de Medicina, Universidad de Valladolid, Spain.

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http://dx.doi.org/10.1002/humu.9126DOI Listing
April 2003