TP53germline mutationp53Li-fraumeni-syndromeCancer surveillanceBreast cancerPurpose TP53germline (g) mutations, associated with the Li-Fraumeni syndrome (LFS), have rarely been reported in the context of hereditary breast and ovarian cancer (HBOC). The prevalence and cancer risks in this target group...
9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook TP53 Medical Acronyms Wikipedia (tē′pē′fĭf′tē-thrē′) n. Seep53. [t(umor) p(rotein) 53; seep53.] American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by ...
ObjectiveTo investigate the clinical characteristics of children with brain tumors complicated with Li-Fraumeni syndrome (LFS) and analyze its association with TP53 gene mutation. MethodsRetrospective analysis was conducted on clinical data of pediatric patients diagnosed with LFS at the outpatient clinic o...
The aim of this study was to provide a comprehensive characterization ofTP53in a large cohort of patients suspected of hereditary cancer. SinceTP53is included in virtually all multi-gene cancer panels, genetic testing has been performed on a wide variety of individuals who do not meet the classic...
ObjectiveTo investigate the clinical characteristics of children with brain tumors complicated with Li-Fraumeni syndrome (LFS) and analyze its association with TP53 gene mutation. MethodsRetrospective analysis was conducted on clinical...
Germline TP53 mutations, present in hereditary conditions such as Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) syndromes3, cause inherited cancer, while somatic TP53 mutations are associated with 5–50% of cases of every known cancer3. In gastric cancer (GC) specifically, a leading cause of...
we discuss the impact of mutations in the key regulatory gene, TP53 and polymorphisms in its negative regulator MDM2 which are reported to accelerate cancer progression. Missense mutations, null mutations, transversions, transitions, and point mutations occurring in the TP53 gene can cause an increase...
. The mutation/deletion ofTP53was soon demonstrated in many common tumor types (Nigroet al., 1989), and the cancerprone Li-Fraumeni Syndrome, which is characterized by a familial clustering of early (< 45 years) onset tumors, was found to be caused by germline mutations in theTP53gene (...
Somatic Mutations in Cancer (COSMIC) mutational signatures database9,10, we developed a statistical model that describes the TP53 mutational spectrum as a function of the baseline probability of acquiring each mutation and the fitness advantage conferred by attenuation of p53 activity. Collectively, ...
and allows for DNA repair. Mutations in the CHEK2 gene have been found to be correlate with various cancers, particularly hereditary cancers like breast and colorectal cancer [11,12]. Specifically, mutations in the CHEK2 gene can result in the loss or impairment of protein function, affecting ...