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Ana Blanco
Ana Blanco
Fundación Ramón Domínguez
Verified email at usc.es
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Cited by
Year
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
1642008
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
1012014
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
842014
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
832010
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
762012
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
692012
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
582013
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
522007
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
472013
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
472012
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
452007
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
422011
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
392014
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
392011
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
382014
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
282013
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
272014
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), 193-196, 2010
262010
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
262007
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
112011
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