Publicaciones en colaboración con investigadores/as de Complejo Asistencial Universitario de Burgos (25)

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

  2. Stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6: hereditary cancer syndrome?

    Revista Espanola de Enfermedades Digestivas, Vol. 116, Núm. 4, pp. 233-234

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

2021

  1. ARID1A genomic alterations driving microsatellite instability through somatic MLH1 methylation with response to immunotherapy in metastatic lung adenocarcinoma: a case report

    Journal of Medical Case Reports, Vol. 15, Núm. 1

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

  4. Hereditary leiomyomatosis and renal cell cancer syndrome in spain: Clinical and genetic characterization

    Cancers, Vol. 12, Núm. 11, pp. 1-16

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

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

2015

  1. Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair

    Gastroenterology, Vol. 149, Núm. 3, pp. 563-566

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

2012

  1. Lynch syndrome diagnostics: Decision-making process for germ-line testing

    Clinical and Translational Oncology, Vol. 14, Núm. 4, pp. 254-262

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