Publicacións en colaboración con investigadores/as de Gustave Roussy Cancer Campus (15)

2024

  1. Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort

    Pediatric Blood and Cancer

2021

  1. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

    Nature Communications, Vol. 12, Núm. 1

  2. Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019

    Familial Cancer, Vol. 20, Núm. 1, pp. 67-73

  3. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

    Genetics in Medicine, Vol. 23, Núm. 9, pp. 1726-1737

2020

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

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

2019

  1. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

    npj Breast Cancer, Vol. 5, Núm. 1

2018

  1. BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

    Human Mutation, Vol. 39, Núm. 12, pp. 2025-2039

  2. Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

    Oncotarget, Vol. 9, Núm. 25, pp. 17334-17348

2017

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

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

  2. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

2015

  1. Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

    Gastroenterology, Vol. 149, Núm. 4, pp. 1017-1029.e3

2014

  1. Alcohol consumption and survival after a breast cancer diagnosis: A literature-based meta-analysis and collaborative analysis of data for 29,239 cases

    Cancer Epidemiology Biomarkers and Prevention, Vol. 23, Núm. 6, pp. 934-945

  2. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: Suggestions of the European consortium 'Care for CMMRD' (C4CMMRD)

    Journal of Medical Genetics, Vol. 51, Núm. 6, pp. 355-365

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

2001

  1. The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

    Human mutation, Vol. 17, Núm. 6, pp. 520-521