The Average Cumulative Risks of Breast and Ovarian Cancer for Carriers of Mutations in BRCA1 and BRCA2 Attending Genetic Counseling Units in Spain RL Milne, A Osorio, TRY Cajal, A Vega, G Llort, M De La Hoya, O Díez, ... Clinical Cancer Research 14 (9), 2861-2869, 2008 | 167 | 2008 |
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium M Colombo, MJ Blok, P Whiley, M Santamarina, S Gutierrez-Enriquez, ... Human molecular genetics 23 (14), 3666-3680, 2014 | 103 | 2014 |
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing PJ Whiley, M De La Hoya, M Thomassen, A Becker, R Brandão, ... Clinical chemistry 60 (2), 341-352, 2014 | 84 | 2014 |
Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers RL Milne, A Osorio, T Ramón y Cajal, M Baiget, A Lasa, E Diaz-Rubio, ... Breast cancer research and treatment 119, 221-232, 2010 | 83 | 2010 |
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members M Thomassen, A Blanco, M Montagna, TVO Hansen, IS Pedersen, ... Breast cancer research and treatment 132, 1009-1023, 2012 | 76 | 2012 |
Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer A Blanco, M de la Hoya, J Balmana, T Ramón y Cajal, A Teulé, ... Breast cancer research and treatment 132, 307-315, 2012 | 69 | 2012 |
Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases A Blanco, M de la Hoya, A Osorio, O Diez, MD Miramar, M Infante, ... PLoS One 8 (7), e67538, 2013 | 58 | 2013 |
In vivo Functional Analysis of the Counterbalance of Hyperactive Phosphatidylinositol 3-Kinase p110 Catalytic Oncoproteins by the Tumor Suppressor PTEN A Andrés-Pons, I Rodríguez-Escudero, A Gil, A Blanco, A Vega, M Molina, ... Cancer research 67 (20), 9731-9739, 2007 | 55 | 2007 |
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 … LC Walker, PJ Whiley, C Houdayer, TVO Hansen, A Vega, M Santamarina, ... Human mutation 34 (10), 1424-1431, 2013 | 47 | 2013 |
Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases B Martinez-Delgado, K Yanowsky, L Inglada-Perez, M de la Hoya, ... Journal of medical genetics 49 (5), 341-344, 2012 | 47 | 2012 |
Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families S Filippini, A Blanco, A Fernández-Marmiesse, V Álvarez-Iglesias, ... BMC Medical Genetics 8, 1-6, 2007 | 45 | 2007 |
International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation A Peixoto, C Santos, M Pinheiro, P Pinto, MJ Soares, P Rocha, L Gusmao, ... Breast cancer research and treatment 127, 671-679, 2011 | 44 | 2011 |
RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families A Blanco, S Gutierrez-Enriquez, M Santamarina, G Montalban, S Bonache, ... Breast cancer research and treatment 147, 133-143, 2014 | 40 | 2014 |
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants S Gutiérrez‐Enríquez, S Bonache, G Ruíz de Garibay, A Osorio, ... International journal of cancer 134 (9), 2088-2097, 2014 | 40 | 2014 |
BRCA1 mutations do not increase prostate cancer risk: Results from a meta‐analysis including new data L Fachal, A Gómez‐Caamaño, C Celeiro‐Muñoz, P Peleteiro, A Blanco, ... The prostate 71 (16), 1768-1779, 2011 | 39 | 2011 |
Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families GR De Garibay, A Díaz, B Gavina, A Romero, P Garre, A Vega, A Blanco, ... European Journal of Human Genetics 21 (8), 883-886, 2013 | 28 | 2013 |
Ligneous conjunctivitis: a clinicopathological, immunohistochemical, and genetic study including the treatment of two sisters with multiorgan involvement MT Rodríguez-Ares, I Abdulkader, A Blanco, R Touriño-Peralba, ... Virchows Archiv 451, 815-821, 2007 | 28 | 2007 |
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 L Fachal, A Blanco, M Santamarina, A Carracedo, A Vega PloS one 9 (3), e93306, 2014 | 27 | 2014 |
Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN. A Blanco, B Grana, L Fachal, M Santamarina, J Cameselle-Teijeiro, ... Clinical genetics 77 (2), 2010 | 26 | 2010 |
Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry B Graña, L Fachal, E Darder, J Balmaña, T Ramón y Cajal, I Blanco, ... Breast cancer research and treatment 128, 573-579, 2011 | 11 | 2011 |