Publicaciones en colaboración con investigadores/as de Institute Catalá Oncología (20)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

2021

  1. Mapping the human genetic architecture of COVID-19

    Nature, Vol. 600, Núm. 7889, pp. 472-477

2020

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

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

2017

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

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

2016

  1. Highlights of 8th Biennial Congress of the Spanish Society of Gene and Cell Therapy

    Human Gene Therapy

2015

  1. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

    JAMA - Journal of the American Medical Association, Vol. 313, Núm. 13, pp. 1347-1361

  2. 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

  3. GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X

    Human Mutation, Vol. 35, Núm. 1, pp. 50-52

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. 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

2011

  1. 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

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

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

2010

  1. BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

    Clinical Genetics, Vol. 77, Núm. 1, pp. 60-69

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

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

  3. 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

2009

  1. The TP53 Arg72Pro and MDM2 309GT polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

    British Journal of Cancer, Vol. 101, Núm. 8, pp. 1456-1460

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