Publicaciones (39) Publicaciones de Maria Del Mar Infante Sanz

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. Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

    Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338

2023

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

    Pathology Research and Practice, Vol. 247

  2. Multiomics insights on the onset, progression, and metastatic evolution of breast cancer

    Frontiers in Oncology, Vol. 13

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. Rad51d aberrant splicing in breast cancer: Identification of splicing regulatory elements and minigene-based evaluation of 53 dna variants

    Cancers, Vol. 13, Núm. 11

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. Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

    Breast cancer research : BCR, Vol. 22, Núm. 1, pp. 108

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. Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study

    Human Mutation, Vol. 39, Núm. 9, pp. 1155-1160

  3. 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. BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

    Familial Cancer, Vol. 14, Núm. 4, pp. 505-513

  2. Cuándo aparecieron las mutaciones que predisponen a cáncer de mama y ovario hereditario en Castilla y León

    Femina: mujeres en la historia (Valladolid : Ediciones Universidad de Valladolid, 2015), pp. 203-215

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

  2. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    PLoS Genetics, Vol. 10, Núm. 4

  3. GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X

    Human Mutation, Vol. 35, Núm. 1, pp. 50-52