Publicacións en colaboración con investigadores/as de Universidad de Valladolid (10)

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. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

    Human Mutation, Vol. 39, Núm. 5, pp. 593-620

2017

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

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

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

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

2006

  1. Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer

    Clinical Chemistry, Vol. 52, Núm. 8, pp. 1480-1485

2004

  1. The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population

    International Journal of Cancer, Vol. 108, Núm. 1, pp. 54-56

  2. The variant E233G of the rad51d gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations

    International Journal of Cancer, Vol. 110, Núm. 6, pp. 845-849

2003

  1. Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

    Human Mutation, Vol. 22, Núm. 4, pp. 301-312

  2. Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations

    European Journal of Human Genetics