Background: Familial Medullary Thyroid Cancer (FMTC) is hereditary in 25% of cases. Patients with an inherited form FMTC usually have a germline mutation the RET proto-oncogene (10q11.2); these mutations generally occur exons 10 (codons 618 and 620) 11 630, 631, 634).
 Methods: A narrative review articles focused on pathology familial medullary thyroid cancer was carried out using next dat...

BACKGROUND Identifying reliable trait markers of familial risk for major depressive disorder (MDD) is a challenge in translational psychiatric research. In individuals with acute MDD, dysfunctional connectivity patterns of prefrontal areas have been shown repeatedly. However, it has been unclear in which neuronal networks functional alterations in individuals at familial risk for MDD might be p...

familial hypercholesterolemia (fh) is a hereditary dislipidemia. patients present with extremely high level of low-density lipoprotein cholesterol (ldl-c), which is due to mutation in the gene of ldl receptor. homozygous patients (hofh) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. in homozygous individuals cardiovasc...

desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis (fap) as an extra-colonic manifestation of the disease. fap can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. although mild or attenuated fap may follow mutations in 5΄ extreme of the gene, it is more likely that ...

background: germ-line mutations of brca1 and brca2 genes are responsible for approximately 25-30% of dominantly inherited familial breast cancers; still a big part of genetic component is unknown. the aim of this study was to investigate genetic causes of familial breast cancer in a pedigree with recessive pattern of inheritance. methods: we applied exome sequencing as a useful approach in hete...

a 6.5 yr old girl was admitted with a category of clinical signs and symptoms including recurrent gross hematuria, ab-dominal pain, and fever. after different examinations including genetic analysis, the disease was diagnosed as familial mediterranean fever (fmf). it is suggested to consider fmf as a rare cause of recurrent gross hematuria, which is re-sponsive to colchicine treatment.

background: brca1 and brca2 genes have been recognized to be responsible for 20-30% of hereditary breast can­cers and approximately 50% of familial breast and ovarian cancers. therefore, the demand for brca1 and brca2 muta­tion screening is rapidly increasing as their identification will affect medical management of people at increased risk. because of high costs involved in analysis of brca1 a...

BACKGROUND Recent studies have identified the presence of familial clustering of ischemic sudden cardiac death (SCD) as a clinical expression of coronary artery disease. The purpose of this study was to determine whether nonischemic SCD has a similar familial background, which would be evidence of a genetic predisposition. METHODS AND RESULTS The retrospective case-control study included (1) ...