Publicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (22)

2022

  1. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

    Journal of the National Cancer Institute, Vol. 114, Núm. 1, pp. 109-122

  2. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    Communications biology, Vol. 5, Núm. 1, pp. 1061

  3. Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))

    European journal of human genetics : EJHG

  4. Polygenic risk modeling for prediction of epithelial ovarian cancer risk

    European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362

2020

  1. Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

    Cancer Research, Vol. 80, Núm. 3, pp. 624-638

  2. Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

    JAMA Oncology, Vol. 6, Núm. 8, pp. 1218-1230

2019

  1. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

    Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578

2018

  1. A phase Ib/II study (SCORES) of durvalumab (D) plus danvatirsen (DAN; AZD9150) or AZD5069 (CX2i) in advanced solid malignancies and recurrent/metastatic head and neck squamous cell carcinoma (RM-HNSCC): Updated results

    Annals of oncology : official journal of the European Society for Medical Oncology, Vol. 29, pp. viii372

  2. 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

2016

  1. Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: A Spanish expanded access trial

    Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1

  2. Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

    Breast Cancer Research, Vol. 18, Núm. 1

2015

  1. Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers

    Cancer Epidemiology Biomarkers and Prevention, Vol. 24, Núm. 1, pp. 308-316

  2. Mammographic density and breast cancer in women from high risk families

    Breast Cancer Research, Vol. 17, Núm. 1

2014

  1. Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC)

    Clinical and Translational Oncology, Vol. 16, Núm. 3, pp. 280-284

  2. Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants

    Human Mutation, Vol. 35, Núm. 1, pp. 53-57

2013

  1. Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

    PLoS ONE, Vol. 8, Núm. 7

  2. Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families

    European Journal of Human Genetics, Vol. 21, Núm. 8, pp. 883-886

2012

  1. Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: Review of the literature, and reevaluation of the genetic mechanisms involved in their origin

    Breast Cancer Research and Treatment, Vol. 133, Núm. 1, pp. 273-283

  2. Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

    Breast Cancer Research and Treatment, Vol. 132, Núm. 1, pp. 307-315

  3. Guidelines for biomarker testing in colorectal carcinoma (CRC): A national consensus of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM)

    Clinical and Translational Oncology, Vol. 14, Núm. 10, pp. 726-739