Publicacions en col·laboració amb investigadors/es de Hospital de la Santa Creu i Sant Pau (15)

2024

  1. Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

  2. SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

    Database : the journal of biological databases and curation, Vol. 2024

2022

  1. Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

2021

  1. A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer

    Genome Medicine, Vol. 13, Núm. 1

  2. Deciphering the complex interplay between pancreatic cancer, diabetes mellitus subtypes and obesity/BMI through causal inference and mediation analyses

    Gut, Vol. 70, Núm. 2, pp. 319-329

2020

  1. Clinical and Pathological Characterization of Lynch-Like Syndrome

    Clinical Gastroenterology and Hepatology, Vol. 18, Núm. 2, pp. 368-374.e1

  2. Comprehensive constitutional genetic and epigenetic characterization of lynch-like individuals

    Cancers, Vol. 12, Núm. 7, pp. 1-32

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

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

  4. Pancreatic Cancer Risk in Relation to Lifetime Smoking Patterns, Tobacco Type, and Dose-Response Relationships

    Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, Vol. 29, Núm. 5, pp. 1009-1018

  5. Risk of cancer in family members of patients with lynch-like syndrome

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

2019

  1. Pancreatic cancer and autoimmune diseases: An association sustained by computational and epidemiological case–control approaches

    International Journal of Cancer, Vol. 144, Núm. 7, pp. 1540-1549

2018

  1. Risk of pancreatic cancer associated with family history of cancer and other medical conditions by accounting for smoking among relatives

    International Journal of Epidemiology, Vol. 47, Núm. 2, pp. 473-483

2017

  1. Reduced risk of pancreatic cancer associated with asthma and nasal allergies

    Gut, Vol. 66, Núm. 2, pp. 314-322

2014

  1. Identification of a founder EPCAM deletion in Spanish Lynch syndrome families

    Clinical Genetics, Vol. 85, Núm. 3, pp. 260-266

  2. Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

    European Journal of Cancer, Vol. 50, Núm. 13, pp. 2241-2250