L. Pérez-Cabornero

发表

Two founder BRCA2 mutations predispose to breast cancer in young women

E. Velasco, A. Lasa, A. Acedo, 2010, Breast Cancer Research and Treatment.

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

M. Urioste, J. Benítez, A. Osorio, 2017, Breast Cancer Research and Treatment.

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

E. Velasco, M. Durán, C. Miner, 2013, International Journal of Colorectal Disease.

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

E. Velasco, A. Acedo, M. Durán, 2012, Breast Cancer Research.

A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients

F. Pagani, E. Velasco, A. Acedo, 2010, Clinical Cancer Research.

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

E. Velasco, M. Durán, C. Miner, 2013, The Journal of molecular diagnostics : JMD.

Characterization of New Founder Alu-Mediated Rearrangements in MSH2 Gene Associated with a Lynch Syndrome Phenotype

M. Sanz, Gabriel Capellá Munar, Eladio Velasco Sampedro, 2011, Cancer Prevention Research.

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

N. Rosenberg, S. Gruber, M. Urioste, 2010, Cancer research.

CAN-10-0570 Cancer esearch ical Studies 1 Founder Mutations with Moderate Penetrance in R nish Lynch Syndrome Families

N. Rosenberg, S. Gruber, V. Moreno, 2010 .

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

E. Velasco, M. Durán, C. Miner, 2007, Nature Protocols.

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

E. Velasco, A. Acedo, M. Durán, 2012, Breast Cancer Research.

Lynch syndrome diagnostics: decision-making process for germ-line testing

C. García-Girón, M. Durán, M. J. Barrio, 2012, Clinical and Translational Oncology.

Incidence of −93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer

M. Durán, C. Miner, M. Infante, 2013, Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland.

Frequency of Rearrangements in Lynch Syndrome Cases Associated with MSH2: Characterization of a New Deletion Involving both EPCAM and the 5′ Part of MSH2

M. Sanz, Eladio Velasco Sampedro, L. Pérez-Cabornero, 2011, Cancer Prevention Research.

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

E. Velasco, M. Durán, C. Miner, 2009, European journal of cancer.

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

M. Tejada, E. Velasco, A. Acedo, 2010, Clinical genetics.

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

M. Urioste, J. Benítez, C. Lázaro, 2019, Journal of the American Heart Association.

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

N. Rosenberg, S. Gruber, M. Urioste, 2010, Cancer research.