نتایج جستجو برای: germline mutation
تعداد نتایج: 300136 فیلتر نتایج به سال:
Abstract Introduction Hereditary diffuse gastric cancer is an autosomal inherited syndrome associated with the E-cadherin germline mutations. Different types of CDH1 germline mutations have been reported; the missense alterations are rarely identified when compared with truncating mutations. The identification of missense mutation represents a clinical burden, since its pathogenicity is still u...
PURPOSE Hereditary papillary renal carcinoma (HPRC) is characterized by a predisposition to multiple, bilateral papillary type 1 renal tumors caused by inherited activating missense mutations in the tyrosine kinase domain of the MET proto-oncogene. In the current study we evaluated the clinical phenotype and germline MET mutation of 3 new HPRC families. We describe the early onset clinical feat...
OBJECTIVE To investigate the potential contribution of germline sequence alterations in the BAP1 gene in uveal melanoma (UM) patients with possible predisposition to hereditary cancer. DESIGN A total of 53 unrelated UM patients with high risk for hereditary cancer and five additional family members of one proband were studied. Mutational screening was carried out by direct sequencing. RESUL...
Chapter 1 provides a general introduction to the Li-Fraumeni syndrome. Frederic P. Li and Joseph F. Fraumeni studied the possible association between childhood-onset sarcoma and breast cancer, after the referral of two cousins who both developed rhabdomyosarcoma in childhood. Subsequently, Li and Fraumeni suggested the existence of a new familial cancer syndrome with a predisposition to sarcoma...
Germline mutations in four human mismatch repair genes (MSH2, MLH1, PMS1, and PMS2) have been reported to cause hereditary non-polyposis colon cancer syndrome (HNPCC). The identification of germline mutations in HNPCC kindreds allows precise diagnosis and accurate predictive testing. To investigate further the genetic epidemiology of HNPCC and the nature and frequency of germline mutations in t...
BACKGROUND & AIMS Heterozygous germline mutations in PRKCSH cause autosomal dominant polycystic liver disease (PCLD), but it is not clear how they lead to cyst formation. We investigated whether mutations in cyst epithelial cells and corresponding loss of the PRKCSH gene product (hepatocystin) contributed to cyst development. METHODS Liver cyst material was collected through laparoscopic cyst...
OBJECTIVE To determine the germline mutation in an extended family in which 1 member was diagnosed clinically with von Hippel-Lindau (VHL) disease and to investigate 3 generations of the family. SUBJECTS AND METHODS The polymerase chain reaction-single strand conformation polymorphism sequencing techniques were used to identify the germline mutation in the VHL gene in the patient and also to ...
Knowledge of the rate and fitness effects of mutations is essential for understanding the process of evolution. Mutations are inherently difficult to study because they are rare and are frequently eliminated by natural selection. In the ciliate Tetrahymena thermophila, mutations can accumulate in the germline genome without being exposed to selection. We have conducted a mutation accumulation (...
The germline mutation rate is an important parameter that affects the amount of genetic variation and the rate of evolution. However, neither the rate of germline mutations in laboratory mice nor the biological significance of the mutation rate in mammalian populations is clear. Here we studied genome-wide mutation rates and the long-term effects of mutation accumulation on phenotype in more th...
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