Argitalpenak (16) LUCIA PEREZ CABORNERO argitalpenak

2019

  1. POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas

    Journal of the American Heart Association, Vol. 8, Núm. 18, pp. e012875

2017

  1. Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene

    Breast Cancer Research and Treatment, Vol. 161, Núm. 3, pp. 597-604

2015

  1. MOLECULAR DIAGNOSIS OF GENETIC DISEASES: FROM GENETIC TO GENOMIC DIAGNOSIS USING NEXT GENERATION SEQUENCING

    Revista Medica Clinica Las Condes, Vol. 26, Núm. 4, pp. 458-469

2013

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

    Journal of Molecular Diagnostics, Vol. 15, Núm. 3, pp. 380-390

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

    International Journal of Colorectal Disease, Vol. 28, Núm. 9, pp. 1195-1201

  3. Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer

    Colorectal Disease, Vol. 15, Núm. 3

2012

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

    Breast Cancer Research, Vol. 14, Núm. 3

  2. Lynch syndrome diagnostics: Decision-making process for germ-line testing

    Clinical and Translational Oncology, Vol. 14, Núm. 4, pp. 254-262

2011

  1. Characterization of new founder alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype

    Cancer Prevention Research, Vol. 4, Núm. 10, pp. 1546-1555

  2. Frequency of rearrangements in Lynch syndrome cases associated with MSH2: Characterization of a new deletion involving both EPCAM and the 5′ part of MSH2

    Cancer Prevention Research, Vol. 4, Núm. 10, pp. 1556-1562

2010

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

    Clinical Cancer Research, Vol. 16, Núm. 6, pp. 1957-1967

  2. BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

    Clinical Genetics, Vol. 77, Núm. 1, pp. 60-69

  3. MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families

    Cancer Research, Vol. 70, Núm. 19, pp. 7379-7391

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

    Breast Cancer Research and Treatment, Vol. 122, Núm. 2, pp. 567-571

2009

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

    European Journal of Cancer, Vol. 45, Núm. 8, pp. 1485-1493

2007

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

    Nature Protocols, Vol. 2, Núm. 1, pp. 237-246