Publicaciones en colaboración con investigadores/as de Centro Nacional de Investigaciones Oncológicas (24)

2022

  1. A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility

    Cancers, Vol. 14, Núm. 19

2020

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

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

  2. Hereditary leiomyomatosis and renal cell cancer syndrome in spain: Clinical and genetic characterization

    Cancers, Vol. 12, Núm. 11, pp. 1-16

2018

  1. Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer

    Gastroenterology, Vol. 154, Núm. 1, pp. 181-194.e20

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

  2. Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair

    Gastroenterology, Vol. 149, Núm. 3, pp. 563-566

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. Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles

    Human Mutation, Vol. 34, Núm. 12, pp. 1615-1618

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

    PLoS Genetics, Vol. 9, Núm. 3

  3. 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

  4. Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles

    PLoS ONE, Vol. 8, Núm. 2

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. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

    Breast Cancer Research, Vol. 13, Núm. 6

  2. Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

    Journal of the National Cancer Institute, Vol. 103, Núm. 2, pp. 105-116

  3. Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

    Human Genetics, Vol. 130, Núm. 5, pp. 685-699

2010

  1. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction

    Cancer Research, Vol. 70, Núm. 23, pp. 9742-9754

  2. Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

    PLoS Genetics, Vol. 6, Núm. 10, pp. 1-12