FACULTAD DE CIENCIAS DE LA SALUD
Facultad/Centro de investigación
LUCIA
PEREZ CABORNERO
Ikertzailea 2021-2021 tartean
LUCIA PEREZ CABORNERO-rekin lankidetzan egindako argitalpenak (16)
2019
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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
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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
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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
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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
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Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome
International Journal of Colorectal Disease, Vol. 28, Núm. 9, pp. 1195-1201
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Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer
Colorectal Disease, Vol. 15, Núm. 3
2012
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Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes
Breast Cancer Research, Vol. 14, Núm. 3
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Lynch syndrome diagnostics: Decision-making process for germ-line testing
Clinical and Translational Oncology, Vol. 14, Núm. 4, pp. 254-262
2011
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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
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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
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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
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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
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MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families
Cancer Research, Vol. 70, Núm. 19, pp. 7379-7391
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Two founder BRCA2 mutations predispose to breast cancer in young women
Breast Cancer Research and Treatment, Vol. 122, Núm. 2, pp. 567-571
2009
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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
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Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes
Nature Protocols, Vol. 2, Núm. 1, pp. 237-246