Publications by authors named "Laura Valle"

81Publications

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.

Am J Med Genet A 2020 11 8;182(11):2742-2745. Epub 2020 Sep 8.

Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.61839DOI Listing
November 2020

Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes.

J Clin Med 2020 Jun 23;9(6). Epub 2020 Jun 23.

Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, 08908 Barcelona, Spain.

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http://dx.doi.org/10.3390/jcm9061954DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7355797PMC
June 2020

Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.

Hum Mutat 2020 Sep 28;41(9):1563-1576. Epub 2020 Jul 28.

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

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http://dx.doi.org/10.1002/humu.24057DOI Listing
September 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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http://dx.doi.org/10.1053/j.gastro.2020.03.015DOI Listing
July 2020

Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.

J Med Genet 2020 Oct 13;57(10):677-682. Epub 2020 Mar 13.

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, Barcelona, Spain

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http://dx.doi.org/10.1136/jmedgenet-2019-106374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525772PMC
October 2020

Reply to: "Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient".

J Hum Genet 2020 06 11;65(6):513-514. Epub 2019 Dec 11.

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

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http://dx.doi.org/10.1038/s10038-019-0701-6DOI Listing
June 2020

Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.

Hum Mutat 2019 11 29;40(11):1910-1923. Epub 2019 Jul 29.

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

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http://dx.doi.org/10.1002/humu.23853DOI Listing
November 2019

Update on genetic predisposition to colorectal cancer and polyposis.

Mol Aspects Med 2019 10 18;69:10-26. Epub 2019 Mar 18.

Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, D-69120, Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mam.2019.03.001DOI Listing
October 2019

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

Cancer Lett 2019 04 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

Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine.

J Pathol 2019 04 20;247(5):574-588. Epub 2019 Feb 20.

Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1002/path.5229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6747691PMC
April 2019

Colon-specific eQTL analysis to inform on functional SNPs.

Br J Cancer 2018 10 4;119(8):971-977. Epub 2018 Oct 4.

Unit of Biomarkers and Susceptibility, Cancer Prevention and Control Program, Catalan Institute of Oncology (ICO), Barcelona, 08908, Spain.

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http://dx.doi.org/10.1038/s41416-018-0018-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203735PMC
October 2018

Telomere length alterations in microsatellite stable colorectal cancer and association with the immune response.

Biochim Biophys Acta Mol Basis Dis 2018 09 14;1864(9 Pt B):2992-3000. Epub 2018 Jun 14.

Unit of Biomarkers and Susceptibility, Cancer Prevention and Control Program, Catalan Institute of Oncology (ICO), Oncobell Program, Bellvitge Biomedical Research Institute (IDIBELL) and CIBERESP, L'Hospitalet de Llobregat, Barcelona, Spain; Department of Clinical Sciences, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2018.06.010DOI Listing
September 2018

Two novel colorectal cancer risk loci in the region on chromosome 9q22.32.

Oncotarget 2018 Feb 29;9(13):11170-11179. Epub 2018 Jan 29.

Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm SE-17176, Sweden.

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http://dx.doi.org/10.18632/oncotarget.24340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834248PMC
February 2018

Evidence suggests that germline mutations are a rare cause of serrated polyposis.

Gut 2018 12 12;67(12):2230-2232. Epub 2018 Jan 12.

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

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http://gut.bmj.com/lookup/doi/10.1136/gutjnl-2017-315733
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http://dx.doi.org/10.1136/gutjnl-2017-315733DOI Listing
December 2018

Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis.

Clin Gastroenterol Hepatol 2017 03 5;15(3):461-462. Epub 2016 Oct 5.

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

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http://dx.doi.org/10.1016/j.cgh.2016.09.153DOI Listing
March 2017

Recent Discoveries in the Genetics of Familial Colorectal Cancer and Polyposis.

Authors:
Laura Valle

Clin Gastroenterol Hepatol 2017 Jun 3;15(6):809-819. Epub 2016 Oct 3.

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

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http://dx.doi.org/10.1016/j.cgh.2016.09.148DOI Listing
June 2017

The impact of switching to the one-step method for GDM diagnosis on the rates of postpartum screening attendance and glucose disorder in women with prior GDM. The San Carlos Gestational Study.

J Diabetes Complications 2016 Sep-Oct;30(7):1360-4. Epub 2016 May 7.

Endocrinology and Nutrition Department, Hospital Clínico San Carlos-IdISSC, Madrid, Spain; Facultad de Medicina.Departamento de Medicina 2, Universidad Complutense de Madrid, Hospital Clínico San Carlos-IdISSC, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jdiacomp.2016.04.026DOI Listing
March 2018

AMER1 Is a Frequently Mutated Gene in Colorectal Cancer--Letter.

Clin Cancer Res 2015 Nov;21(21):4985

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

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http://dx.doi.org/10.1158/1078-0432.CCR-15-1756DOI Listing
November 2015

Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer.

Clin Cancer Res 2015 Oct 12;21(20):4709-18. Epub 2015 Jun 12.

Unit of Biomarkers and Susceptibility, Catalan Institute of Oncology (ICO), Bellvitge Biomedical Research Institute (IDIBELL) and CIBERESP, L'Hospitalet de Llobregat, Barcelona, Spain. Department of Clinical Sciences, Faculty of Medicine, University of Barcelona (UB), Barcelona, 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-15-0159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609254PMC
October 2015

Genetic predisposition to colorectal cancer: where we stand and future perspectives.

Authors:
Laura Valle

World J Gastroenterol 2014 Aug;20(29):9828-49

Laura Valle, Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, 08908 Barcelona, Spain.

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http://dx.doi.org/10.3748/wjg.v20.i29.9828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4123366PMC
August 2014

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

The efficiency of telemedicine to optimize metabolic control in patients with type 1 diabetes mellitus: Telemed study.

Diabetes Technol Ther 2014 Jul 14;16(7):435-41. Epub 2014 Feb 14.

1 Diabetes Unit, Hospital Clinic, University of Barcelona , Biomedical Research Center in Diabetes and Associated Metabolic Disorders, Barcelona, Spain .

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http://www.liebertpub.com/doi/10.1089/dia.2013.0313
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http://dx.doi.org/10.1089/dia.2013.0313DOI 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

Risk factors for gestational diabetes mellitus in a large population of women living in Spain: implications for preventative strategies.

Int J Endocrinol 2012 12;2012:312529. Epub 2012 Apr 12.

Department of Endocrinology and Nutrition, Hospital Clínico San Carlos, Professor Martín Lagos Street s/n, 28040 Madrid, Spain.

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http://dx.doi.org/10.1155/2012/312529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3332173PMC
August 2012

Debate about TGFBR1 and the susceptibility to colorectal cancer.

Authors:
Laura Valle

World J Gastrointest Oncol 2012 Jan;4(1):1-8

Laura Valle, Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, 08908 Hospitalet de Llobregat, Spain.

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http://www.wjgnet.com/1948-5204/full/v4/i1/1.htm
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http://dx.doi.org/10.4251/wjgo.v4.i1.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3277874PMC
January 2012

Measles outbreak in adults in Italy.

Infez Med 2011 Mar;19(1):16-9

Infectious Diseases Division, San Martino Hospital, University of Genoa School of Medicine, Italy.

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March 2011

Tgfbr1 haploinsufficiency is a potent modifier of colorectal cancer development.

Cancer Res 2009 Jan;69(2):678-86

Department of Medicine, Division of Hematology/Oncology, Comprehensive Cancer Center, The University of Alabama at Birmingham, Birmingham, Alabama 35294-3300, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-08-3980DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668823PMC
January 2009

Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability status.

J Clin Oncol 2007 Mar 16;25(7):781-6. Epub 2007 Jan 16.

Familial Cancer Unit, Spanish National Cancer Centre, Melchor Fernández Almagro, Madrid, Spain.

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http://dx.doi.org/10.1200/JCO.2006.06.9781DOI Listing
March 2007

Generation of the BCR/ABL fusion gene in a Philadelphia chromosome-negative chronic myeloid leukaemia: insertion of 5.6 Mb of 9q34 into the BCR region of chromosome 22.

Hematol Oncol 2006 Jun;24(2):86-8

Familial Cancer Unit, Human Cancer Genetics Program, Centro Nacional de Investigaciones Oncológicas, Madrid, Spain.

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http://dx.doi.org/10.1002/hon.775DOI Listing
June 2006

Malignant degeneration of presacral teratoma in the Currarino anomaly.

Am J Med Genet A 2004 Jul;128A(3):299-304

Department of Human Genetics, Centro Nacional de Investigaciones Oncológicas, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.30028DOI Listing
July 2004

Molecular cytogenetic characterization of rhabdomyosarcoma cell lines.

Cancer Genet Cytogenet 2004 Jan;148(1):35-43

Cytogenetics Unit, Department of Human Genetics, Centro Nacional de Investigaciones Oncológicas, C/ Melchor Fernandez Almagro 3, 28029 Madrid, Spain.

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http://dx.doi.org/10.1016/s0165-4608(03)00216-4DOI Listing
January 2004

Methyl-CpG binding proteins identify novel sites of epigenetic inactivation in human cancer.

EMBO J 2003 Dec;22(23):6335-45

Epigenetics Laboratory, Molecular Pathology Programme, Spanish National Cancer Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain.

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http://dx.doi.org/10.1093/emboj/cdg604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC291845PMC
December 2003