Pathway Mutations in Breast Cancer Using Whole-Exome Sequencing
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 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 Identifies Novel Somatic Mutations in Chinese Breast Cancer Patients
Most breast cancer genomes harbor complex mutational landscapes. Somatic alterations have been predominantly discovered in breast cancer patients of European ancestry; however, little is known about somatic aberration in patients of other ethnic groups including Asians. In the present study, whole-exome sequencing (WES) was conducted in DNA extracted from tumor and matched adjacent normal tissu...
متن کاملNF1 Mutations Analysis Using Whole Exome Sequencing Technique in 11 Unrelated Iranian Families with Neurofibromatosis Type 1
Background Neurofibromatosis is an autosomal dominant disease. It affects one in 2,700 to 3,300 people. The main gene mutated in the disease is a tumor suppressor protein called neurofibromin. There are several categories, the most important of which is divided into two types of type I and type 2 neurofibromatosis. Here, we aimed to identify th...
متن کاملGenomic analysis–integrated whole-exome sequencing of neuroblastomas identifies genetic mutations in axon guidance pathway
Neuroblastoma (NB) is a childhood solid malignant tumor originating from precursor cells of the peripheral nervous system. We have previously established a risk classification system based on DNA copy number profiles. To further explore the pathogenesis of NBs in distinct risk groups, we performed whole-exome sequencing analysis of 57 primary and 7 recurrent/metastatic tumors with unique chromo...
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: Oncology Research Featuring Preclinical and Clinical Cancer Therapeutics
سال: 2020
ISSN: 0965-0407
DOI: 10.3727/096504019x15698362825407