Publicacións en colaboración con investigadores/as de Complejo Asistencial Universitario de Burgos (21)

2024

  1. Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations

    Clinica Chimica Acta, Vol. 552

2023

  1. Multigene germline testing usefulness instead of BRCA1/2 single screening in triple negative breast cancer cases

    Pathology Research and Practice, Vol. 247

2022

  1. Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?

    International Journal of Molecular Sciences, Vol. 23, Núm. 19

2020

  1. A comprehensive custom panel evaluation for routine hereditary cancer testing: Improving the yield of germline mutation detection

    Journal of Translational Medicine, Vol. 18, Núm. 1

  2. BRCA Tumor Analysis as Molecular Screening for Germline Testing

    Annals of Clinical Oncology, pp. 1-7

  3. 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

2018

  1. Application of liquid biopsies in metastatic gastrointestinal cancer to identify candidate therapeutic targets

    Annals of Oncology, Vol. 29, pp. vi1

  2. Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants

    Breast Cancer Research and Treatment, Vol. 171, Núm. 1, pp. 53-63

2013

  1. Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays

    Journal of Molecular Diagnostics, Vol. 15, Núm. 3, pp. 380-390

  2. Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome

    International Journal of Colorectal Disease, Vol. 28, Núm. 9, pp. 1195-1201

  3. Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer

    Colorectal Disease, Vol. 15, Núm. 3

  4. 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

2011

  1. Characterization of new founder alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype

    Cancer Prevention Research, Vol. 4, Núm. 10, pp. 1546-1555

  2. Frequency of rearrangements in Lynch syndrome cases associated with MSH2: Characterization of a new deletion involving both EPCAM and the 5′ part of MSH2

    Cancer Prevention Research, Vol. 4, Núm. 10, pp. 1556-1562

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

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

2009

  1. A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR

    European Journal of Cancer, Vol. 45, Núm. 8, pp. 1485-1493