Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes such as, Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancer syndromes. Although the inciden...

Familial Mediterranean fever (FMF) is a hereditary autosomal recessive ,systemic, auto-inflammatory disorder characterized by sporadic, unpredictable attacks of fever and serosal inflammation. FMF is caused by mutations in MEFV, a gene located on the short arm of chromosome 16 (16p13) which encodes a protein 'Pyrin'. The disorder has been given various names including familial paroxysmal polyse...

Methods A total of 93 consecutive patients with a clinical history of periodic fever were screened for mutations in the MVK, TNFRSF1A, and MEFV genes, and detailed clinical information was collected prospectively. For autosomalrecessive diseases (MKD and FMF), only homozygous or compound heterozygous patients were accepted as genetically positive. The developed diagnostic score was validated in...

Address: 1UO Pediatria II Istituto G. Gaslini and Dipartimento di Pediatria, University of Genoa, Genoa, Italy, 2Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genoa, Italy, 3Unità di Biostatistica, DISSAL, University of Genoa, Genoa, Italy, 4Dipartimento di Pediatria, Unità di Immunologia e Reumatologia Pediatrica, Spedali Civili e University of Brescia, Brescia, Italy, 5Dipartimento...

normal 0 false false false en-us x-none ar-sa microsoftinternetexplorer4 colorectal cancer is classified in to three forms: sporadic (70-75%), familial (20-25%) and hereditary (5-10%). hereditary colorectal cancer syndromes classified into two different subtypes: polyposis and non polyposis. familial adenomatous polyposis (fap; omim #175100) is the most common polyposis syndrome, account for <1...

PURPOSE OF THE REVIEW Inherited autoinflammatory syndromes are conditions caused by mutations of proteins playing a pivotal role in the regulation of the innate immunity leading to an uncontrolled inflammation. The understanding of the molecular pathways involved in these disorders has shed a new light on the pattern of activation and maintenance of the inflammatory response and disclosed new m...

Dutch type periodic fever (DPF) is an autosomal recessive hereditary fever syndrome. Cases have been reported worldwide, the majority from France and The Netherlands. From infancy the patients suffer fever attacks that recur every 2-8 weeks, often precipitated by immunizations, infections or emotional stress. Fever lasts 2-7 days and can be accompanied by malaise, headache, diarrhea, abdominal ...

The monogenic autoinflammatory syndromes are conditions caused by mutations of genes coding for proteins that play a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these disorders have an early onset. Clinically they are characterised by recurrent flares of systemic inflammation presenting most of the time as sudden fever episodes associated ...

Address to: Dr. José Roberto Lambertucci. Depto Clínica Médica/Serviço de Doenças Infecciosas e Parasitárias/UFMG. Av. Alfredo Balena 190, 30130-100 Belo Horizonte, MG, Brasil. Phone: 55 31 3337-7781; Fax: 55 31 3409-9820 e-mail: [email protected] Received 4 January 2014 Accepted 22 January 2014 A 22-year-old man was referred to our clinic with a history of recurrent fever, arthalgia, and swell...