Whole Exome Sequencing Analysis of ABCC8 and ABCD2 Genes Associating With Clinical Course of Breast Carcinoma
نویسندگان
چکیده
منابع مشابه
Identification of breast cancer susceptibility genes using whole exome sequencing
Recent advances in technology have opened up the possibility of using next generation sequencing to efficiently uncover predisposing mutations in individuals with inherited cancer in an unbiased manner. We are conducting whole exome sequence analysis of germline DNA from multiple affected relatives from breast cancer families with the aim of identifying rare protein truncating and non-synonymou...
متن کاملidentification of genes and mutations in 10 iranian families with nsarhl by whole exome sequencing
introduction: with prevalence figures close to 0.2% at birth, hearing loss (hl) is the most frequent sensory impairment in childhood. in developed countries, genetic causes account for more than 60% of congenital hl, most often resulting in non-syndromic deafness, which is usually autosomal recessive. hereditary nonsyndromic hearing loss (nshl) in iran is highly heterogeneous, rendering molecul...
متن کاملWhole Exome Sequencing for Mutation Screening in Hemophagocytic Lymphohistiocytosis
Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is dif...
متن کاملWhole Exome Sequencing of Lacrimal Gland Adenoid Cystic Carcinoma
Purpose To identify genomic mutations in lacrimal gland adenoid cystic carcinoma (LGACC) samples from patients. Methods Genomic DNA was extracted from LGACC specimens. Whole exome sequencing (exome-seq) was conducted to screen for mutations. Capillary sequencing was performed to verify mutations in genes shared by multiple samples. Luciferase assays were used to evaluate functional consequenc...
متن کاملGenomic Insights Into Sepsis Course Using Whole Exome Sequencing
Article history: Received 20 September 2016 Accepted 20 September 2016 Available online 24 September 2016 Taudien et al. (2016-in this issue) present their results from a study using a promising alternative taking advantage of high-throughput DNA sequencing. The authors selected 59 patients from a roughly 4000 patient cohort, and classified them based on two extreme phenotypes: group A (n=32) c...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Physiological Research
سال: 2015
ISSN: 1802-9973,0862-8408
DOI: 10.33549/physiolres.933212