FLAGS, frequently mutated genes in public exomes
نویسندگان
چکیده
منابع مشابه
Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population
BACKGROUND Retinitis pigmentosa and other hereditary retinal degenerations (HRD) are rare genetic diseases leading to progressive blindness. Recessive HRD are caused by mutations in more than 100 different genes. Laws of population genetics predict that, on a purely theoretical ground, such a high number of genes should translate into an extremely elevated frequency of unaffected carriers of mu...
متن کاملHermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.
To the Editor: Albinism is a genetically heterogeneous group of disorders characterized by reduced melanin biosynthesis that primarily affects the skin and/or the eye (1). All known genetic causes are autosomal recessive except for X-linked isolated ocular albinism [Nettleship-Falls or OA1, GPR143 (G-protein coupled receptor 143)] (1). A total of 18 different genes have been identified to date,...
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AIMS The incidence of RAS/RAF/PI3KA and TP53 gene mutations in colorectal cancer (CRC) is well established. Less information, however, is available on other components of the CRC genomic landscape, which are potential CRC prognostic/predictive markers. METHODS Following a previous validation study, ion-semiconductor next-generation sequencing (NGS) was employed to process 653 routine CRC samp...
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Introduction: To address the issue of limited data on and inconsistent findings for genetic alterations in pancreatic neuroendocrine tumors (pNETs), we analyzed sequences of known pNET-associated genes for their impact on clinical outcomes in a Taiwanese cohort. Methods: Tissue samples from 40 patients with sporadic pNETs were sequenced using a customized sequencing panel that analyzed 43 genes...
متن کاملExpression and clinical significance of genes frequently mutated in small cell lung cancers defined by whole exome/RNA sequencing.
Small cell lung cancer (SCLC) is the most aggressive type of lung cancer. Only 15% of SCLC patients survive beyond 2 years after diagnosis. Therefore, for the improvement of patients' outcome in this disease, it is necessary to identify genetic alterations applicable as therapeutic targets in SCLC cells. The purpose of this study is the identification of genes frequently mutated and expressed i...
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ژورنال
عنوان ژورنال: BMC Medical Genomics
سال: 2014
ISSN: 1755-8794
DOI: 10.1186/s12920-014-0064-y