Publicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (14)

2024

  1. SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

    Database : the journal of biological databases and curation, Vol. 2024

2020

  1. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Nature Genetics, Vol. 52, Núm. 1, pp. 56-73

2018

  1. Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study

    Human Mutation, Vol. 39, Núm. 9, pp. 1155-1160

2017

  1. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

    Nature Genetics, Vol. 49, Núm. 5, pp. 680-691

2015

  1. BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

    Familial Cancer, Vol. 14, Núm. 4, pp. 505-513

2014

  1. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

    Breast Cancer Research, Vol. 16

  2. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    PLoS Genetics, Vol. 10, Núm. 4

2013

  1. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

    PLoS Genetics, Vol. 9, Núm. 3

  2. The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins

    Carcinogenesis, Vol. 34, Núm. 11, pp. 2505-2511

2012

  1. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

    Cancer Epidemiology Biomarkers and Prevention, Vol. 21, Núm. 4, pp. 645-657

  2. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

    Human Mutation, Vol. 33, Núm. 4, pp. 690-702

2011

  1. International distribution and age estimation of the Portuguese BRCA2 c.156-157insAlu founder mutation

    Breast Cancer Research and Treatment, Vol. 127, Núm. 3, pp. 671-679

2010

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

    Breast Cancer Research and Treatment, Vol. 119, Núm. 1, pp. 221-232

2008

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

    Clinical Cancer Research, Vol. 14, Núm. 9, pp. 2861-2869