introduction : brooke-spiegler syndrome (bss) is a rare autosomal dominant disease characterized by the development of multiple adnexal cutaneous tumors such as cylindromas, trichoepitheliomas and spiradenomas. case description: a 49 years old female patient presented with a history of gradual appearance of multiple nodules situated predominantly on the scalp and face. pathologic examination of...

Rare stochastic mutations may accumulate during dormancy of stem-like cells, but technical limitations in DNA sequencing have limited exploring this possibility. In this study, we employed a recently established deep-sequencing method termed Duplex Sequencing to conduct a genome-wide analysis of mitochondrial (mt) DNA mutations in a human breast stem cell model that recapitulates the sequential...

Somatic mutations in the epidermal growth factor receptor (EGFR) gene are present in approximately 20% (in Caucasians) to 40% (in East Asians) of adenocarcinomas of the lung. Targeted therapy for these lung cancers has been established based on evidence regarding mainly common mutations; that is, exon 19 deletions (Del19) and L858R. EGFR-tyrosine kinase inhibitors (TKI), gefitinib, erlotinib or...

objective autosomal recessive congenital ichthyosis (arci) is a rare, heterogenous keratinization disorder of the skin, classically divided into two clinical subtypes, lamellar ichthyosis (li) and nonbullous congenital ichthyosi-formis erythroderma (ncie). lamellar ichtyosis is caused by mutations in the tgm1 gene that encodes transglutaminase 1 enzyme, which is critical for the assembly of the...

male breast cancer is a rare disease with an increasing trend. due to limited information especially about the genetic basis of the disease in iran and the lower age of its onset, the disease requires more attention. the aim of this study was to screen the male patients with breast cancer for brca mutations as well as tissue markers of estrogen receptor (er), progesterone receptor (pr), human e...

bacground: wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. the disorder is caused by mutations in the atp7b gene, encoding a copper transporting p-type atpase. characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families.materials and methods: we en...

Primary neuroendocrine carcinoma of the breast is a rare variant, accounting for only 2% to 5% of diagnosed breast cancers, and may have relatively aggressive behavior. Mutational profiling of invasive ductal breast cancers has yielded potential targets for directed cancer therapy, yet most studies have not included neuroendocrine carcinomas. In a tissue microarray screen, we found a 2.4% preva...

Progressive pseudorheumatoid dysplasia is a rare, autosomal recessive, noninflammatory musculoskeletal disorder caused by mutations occurring in the WNT1- protein present 3 gene. Usual presentation arthralgia, joint stiffness, contractures with primary involvement cartilage. We 13-year-old female child presented history of short stature, bowing legs and curving spine inability to walk normally ...

Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in RNU4ATAC. RNU4ATAC is transcribed into a non-coding small nucle...

An enormous amount of tumor sequencing data has been generated through large scale sequencing efforts. The functional consequences of the majority of mutations identified by such projects remain an open, unexplored question. This problem is particularly complicated in the case of rare mutations where frequency of occurrence alone or prediction of functional consequences are insufficient to dist...