Alias: Familial pancreatic cancer Inheritance It has been estimated that as many as 10% of pancreatic cancers have a hereditary basis; five genetic syndromes have been identified that are associated with the familial aggregation of pancreatic cancer; these include: The second breast cancer syndrome (BRCA2), the familial atypical multiple mole melanoma (FAMMM), the Peutz-Jeghers Syndrome, the he...

Congenital hereditary non-conjugate hyperbilirubinemias include Gilbert’s syndrome, Crigler-Najjar type 1 and 2 syndromes (or Arias’ disease). They are caused by a deficiency of the enzyme - bilirubinuridine-5’-diphosphate glucuronosyltransferase (UGT1A1), involved in glucuronization bilirubin. The is due to mutations UGT1A1 gene, which provides activity. Complete or almost complete loss (Crigl...

Abstract Widespread use of the next-generation sequencing (NGS) technologies revealed that a significant percentage tumors in children develop as part monogenic hereditary diseases. Predisposition to development pediatric neoplasms is characteristic wide range conditions including tumor syndromes, primary immunodeficiencies, RASopathies, and phakomatoses. The mechanisms molecular pathogenesis a...

Introduction Caspase-1 (Interleukin-1 Converting Enzyme, ICE) is a proinflammatory enzyme mediating cleavage and secretion of the proinflammatory cytokines IL-1b and IL-18. Caspase-1 plays pivotal roles in the innate immune system and in inflammatory diseases like periodic fever syndromes, arthritis, or type-II-diabetes. In previous studies published by our group, genetic variants of procaspase...

Results Fifty six patients were included: 17 Cryopyrin-Associated Periodic Syndromes (CAPS), 4 TNF-Receptor-Associated Periodic fever Syndrome (TRAPS), 5 Hyperimmunoglobulinaemia D with periodic fever Syndrome (HIDS), 18 Familial Mediterranean Fever (FMF), 6 Chronic Recurrent Multifocal Osteomyelitis (CRMO), 2 Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome and 4 Behçet’s D...

BACKGROUND The growing possibilities of cancer prevention and treatment as well as the increasing knowledge about hereditary cancers require proper identification of the persons at risk. The aim of this study was to test the outcome of population screening in the scientific and practical evaluation of hereditary cancer. METHODS Population screening for hereditary cancer was carried out retros...

Over 1,900 colorectal tumors will arise in association with a hereditary colorectal cancer syndrome in Spain in 2009. The genetic defects responsible for the most common syndromes have been discovered in recent years. Genetic testing helps diagnose affected individuals and allows identification of individuals at-risk. Colonoscopy and prophylactic colectomy decrease colorectal cancer incidence a...

An 8-year-old patient with genetically confirmed chronic infantile neurological cutaneous and articular syndrome was treated with interleukin-1 receptor antagonist, anakinra. She initially presented with recurrent episodes of fever, rash, chronic fatigue, frequent headaches, ocular involvement (corneal infiltrate and papillary edema), and permanent increased biologic inflammatory markers. Follo...

Hereditary cancer syndromes are frequently seen in young cancer patients and patients with a positive family history. Genetic testing is important for the identification of high-risk individuals, and for the early introduction of specialized preventive care or prophylactic surgeries. High-risk tumour suppressor genes (BRCA1 and BRCA2) and DNA repair genes (MLH1, MSH2 and MSH6) are responsible f...

Objective To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up‐to‐date literature review. Methods The response to treatment was studied in a web‐based registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hos...