A. Blanco

发表

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

A. Spurdle, C. Lázaro, S. Tognazzo, 2012, Breast Cancer Research and Treatment.

In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.

A. Andres-Pons, R. Pulido, V. J. Cid, 2007, Cancer research.

Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

M. Urioste, J. Benítez, I. Chirivella, 2009, Breast Cancer Research and Treatment.

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

F. Couch, A. Spurdle, M. Southey, 2014, Clinical chemistry.

Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases

M. Urioste, J. Benítez, P. Pharoah, 2012, Journal of Medical Genetics.

CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families

Á. Carracedo, L. Fachal, A. Vega, 2013, Clinical and Translational Oncology.

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry

C. Alonso, T. Ramón Y Cajal, O. Díez, 2011, Breast Cancer Research and Treatment.

Ligneous conjunctivitis: a clinicopathological, immunohistochemical, and genetic study including the treatment of two sisters with multiorgan involvement

I. Abdulkader, J. Cameselle-Teijeiro, A. Vega, 2007, Virchows Archiv.

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Jack A. Taylor, W. Chung, S. Cross, 2019, bioRxiv.

Transcriptome ‐ wide association study of breast cancer risk by estrogen ‐ receptor status

Jack A. Taylor, W. Chung, S. Cross, 2020 .

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

O. Olopade, A. Spurdle, D. Baralle, 2016, Journal of Medical Genetics.

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

Á. Carracedo, S. Bonache, O. Díez, 2014, Breast Cancer Research and Treatment.

Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families

Á. Carracedo, V. Álvarez-Iglesias, A. Vega, 2007, BMC Medical Genetics.

Evaluation of a 5‐Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter‐Reviewer Variability and Promotion of Minimum Reporting Guidelines

A. Spurdle, M. Southey, P. Radice, 2013, Human mutation.

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

A. Spurdle, D. Baralle, R. Brandão, 2014, Human molecular genetics.

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

J. Benítez, A. Osorio, T. Ramón Y Cajal, 2014, International journal of cancer.

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

Julian Peto, Kyriaki Michailidou, Kamila Czene, 2016, Human molecular genetics.

Large Genomic Rearrangements of BRCA1 and BRCA2 among Patients Referred for Genetic Analysis in Galicia (NW Spain): Delimitation and Mechanism of Three Novel BRCA1 Rearrangements

Á. Carracedo, L. Fachal, A. Vega, 2014, PloS one.

The Average Cumulative Risks of Breast and Ovarian Cancer for Carriers of Mutations in BRCA1 and BRCA2 Attending Genetic Counseling Units in Spain

M. Urioste, J. Benítez, A. Antoniou, 2008, Clinical Cancer Research.

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Gabriel Capellá, Ana Vega, Alejandro Moles-Fernández, 2018, Front. Genet..

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

Daniel Rueda, Ana Osorio, Xavier de la Cruz, 2020, Clinical chemistry.

BRCA1 mutations do not increase prostate cancer risk: Results from a meta‐analysis including new data

Á. Carracedo, J. Forteza, L. Fachal, 2011, The Prostate.

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

B. Bonanni, M. Urioste, J. Benítez, 2020, Cancers.

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

J. Benítez, I. Chirivella, Á. Carracedo, 2012, Breast Cancer Research and Treatment.

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

J. Benítez, Á. Carracedo, J. Brunet, 2013, PloS one.

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

M. King, W. Foulkes, C. Lázaro, 2011, Breast Cancer Research and Treatment.

Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families

O. Díez, P. Pérez-Segura, T. Caldés, 2012, European Journal of Human Genetics.

The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain.

M. Urioste, J. Benítez, A. Antoniou, 2008, Clinical cancer research : an official journal of the American Association for Cancer Research.

BRCA1 mutations do not increase prostate cancer risk: Results from a meta‐analysis including new data

Á. Carracedo, J. Forteza, L. Fachal, 2011, The Prostate.

Beyond BRCA1 and BRCA2 wild‐type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN

Á. Carracedo, J. Cameselle-Teijeiro, L. Fachal, 2010, Clinical genetics.