TP53 mutations: the dawn of Shwachman clones
نویسندگان
چکیده
منابع مشابه
Hematologically important mutations: Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. The Shwachman-Bodian-Diamond syndrome (SBDS) gene was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. Over the last 4 years, a number of different mutations affecting the ...
متن کاملThree germline mutations in the TP53 gene.
Three germline mutations in the TP53 tumor-suppressor gene are reported, two of which are not reported previously. A missense mutation at codon 265 of TP53 was found in three patients of a family that complied with the definition of the Li-Fraumeni syndrome. A nonsense mutation in codon 306 was found in a woman who had had a rhabdomyosarcoma at age 4 and a subsequent breast cancer at age 22. Sh...
متن کاملClinical Outcomes of TP53 Mutations in Cancers.
High-throughput sequencing of cancer genomes is increasingly becoming an essential tool of clinical oncology that facilitates target identification and targeted therapy within the context of precision medicine. The cumulative profiles of somatic mutations in cancer yielded by comprehensive molecular studies also constitute a fingerprint of historical exposures to exogenous and endogenous mutage...
متن کاملTP53 mutations on circulating cell-free DNA
Article history: Received 6 July 2016 Accepted 6 July 2016 Available online 8 July 2016 Besides the demand for higher sensitivity, the specificity of cfDNA measurements faces even more serious challenges. Cancer-associated mutations are thought to be restricted to cancer patients. However, Fernandez-Cuesta et al. observed cfDNA TP53-mutated fragments in 11.4% of 123 matched non-cancer controls....
متن کاملTP53 gene mutations in prostate cancer progression.
BACKGROUND We assessed the predictive value of TP53 mutations and prostate-specific antigen (PSA) for tumor progression in prostate cancer (PCa) patients. MATERIALS AND METHODS Ninety tumor tissue samples of patients with PCa from radical prostatectomy were used. Tumor progression was estimated biochemically by the PSA level (> 0.2 microg/l) or by detection of metastases. Screening for TP53 m...
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: Blood
سال: 2018
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2017-11-815431