نتایج جستجو برای: Germline mutation
تعداد نتایج: 300136 فیلتر نتایج به سال:
Background: Familial adenomatous polyposis (FAP) is the most common components polyposis syndromes. It incidence is for less than 1 percent of colorectal cancer cases. FAP is characterized by germline mutations in the adenomatous polyposis coli (APC) gene. Generally, there are hundreds to thousands of adenomatous polyps in colon and rectum of patients. The aim of the current study was to evalua...
Background: Li-Fraumeni syndrome (LFS) is one of the most serious hereditary cancer syndromes with a high risk of malignancy in childhood. This syndrome is an autosomal dominant cancer predisposing syndrome due to a germline mutation in the TP53 tumor suppressor gene. Methods: In this study, a representative family case of Li-Fraumeni syndrome is described. The proband of this family ...
Abstract Background: Hereditary non-polyposis colorectal cancer is the most common cause of early onset of hereditary colorectal cancer. In the majority of Hereditary non-polyposis colorectal cancer families, microsatellite instability and germline mutation in one of the DNA mismatch repair genes in clouding MSH2, MLH1, MSH6 and PMS2 are found. The Objective of this study was to determine th...
OBJECTIVE 23% of mesothelioma tumor specimens have a mutation in the BRCA1-associated protein 1 (BAP1) gene and germline BAP1 mutations predispose to malignant pleural mesothelioma (MPM). Our aim was to investigate germline BAP1 mutations in sporadic MPM patients. MATERIALS AND METHODS Exonic DNA from peripheral blood leucocytes of 78 MPM patients was screened for germline BAP1 mutation. RE...
The variation generated by germline mutation is essential for evolution, but individuals pay a steep price in the form of Mendelian disease and genetic predisposition to complex disease. Indeed, the health of a species is determined ultimately by the rate of germline mutation. Analysis of the factor IX gene in patients with hemophilia B has provided insights into the human germline mutational p...
The preservation of pathogenic BRCA1/2 germline mutations in tumor tissues is usually not questioned, while it remains unknown whether these interact with somatic genotypes for patient outcome. Herein we compared germline and tumor genotypes in operable triple-negative breast cancer (TNBC) and evaluated their combined effects on prognosis. We analyzed baseline germline and primary tumor genotyp...
The germline mutation rate has been extensively studied and has been found to vary greatly between species, but much less is known about the somatic mutation rate in multicellular organisms, which remains very difficult to determine. Here, we present data on somatic mutation rates in mice and humans, obtained by sequencing single cells and clones derived from primary fibroblasts, which allows u...
Familial adenomatous polyposis (FAP) is responsible for <1% of colorectal cancer (CRC) cases and is inherited as an autosomal dominant trait. Patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. Here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (APC) tumo...
Mutation is the ultimate source of all genetic variation and is, therefore, central to evolutionary change. Previous work on Paramecium tetraurelia found an unusually low germline base-substitution mutation rate in this ciliate. Here, we tested the generality of this result among ciliates using Tetrahymena thermophila. We sequenced the genomes of 10 lines of T. thermophila that had each undergo...
Gallbladder cancer is a highly aggressive malignancy with an extremely poor prognosis. Germline BRCA1 mutation in gallbladder very rare. Herein, we present case of 73-year-old Asian patient diagnosed lymph nodes and peritoneal metastases just two months after surgery for primary cancer. The had past history early-stage breast received left radical mastectomy 27 years ago. Next-generation sequen...
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