Publications by the researcher in collaboration with Eva Esteban Cardeñosa (16)

2020

  1. Germline genetic findings which may impact therapeutic decisions in families with a presumed predisposition for hereditary breast and ovarian cancer

    Cancers, Vol. 12, Núm. 8, pp. 1-17

2019

  1. A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer

    Breast, Vol. 43, pp. 91-96

  2. Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer

    Molecular Carcinogenesis, Vol. 58, Núm. 1, pp. 156-160

2014

  1. About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

    International Journal of Cancer, Vol. 134, Núm. 9, pp. 2088-2097

2013

  1. 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

2010

  1. A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients

    Clinical Cancer Research, Vol. 16, Núm. 6, pp. 1957-1967

  2. 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

  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

  4. Two founder BRCA2 mutations predispose to breast cancer in young women

    Breast Cancer Research and Treatment, Vol. 122, Núm. 2, pp. 567-571

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

2007

  1. Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes

    Nature Protocols, Vol. 2, Núm. 1, pp. 237-246

2006

  1. High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain)

    Journal of Human Genetics, Vol. 51, Núm. 7, pp. 611-617

2005

  1. Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis

    Electrophoresis, Vol. 26, Núm. 13, pp. 2539-2552

2004

  1. High-Throughput Mutation Detection Method to Scan BRCA1 and BRCA2 Based on Heteroduplex Analysis by Capillary Array Electrophoresis

    Clinical Chemistry, Vol. 50, Núm. 2, pp. 313-320

2003

  1. Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations.

    Human mutation, Vol. 21, Núm. 4, pp. 448

2002

  1. Estudio molecular de los genes BRCA1 y BRCA2 en 153 familias con cáncer de mama de Castilla y León (España): Identificación de nueve variantes de efecto desconocido no descritas

    Medicina Clinica, Vol. 119, Núm. 12, pp. 441-445