Publications en collaboration avec des chercheurs de Hospital Universitario de Cruces (7)

2018

  1. Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, confirm its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome

    Frontiers in Genetics, Vol. 9, Núm. JAN

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. 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

2012

  1. 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

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. 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

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