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TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes
(Springer Verlag (Germany), 2017)
TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma
(Springer Verlag (Germany), 2018)
TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes
(Springer Verlag (Germany), 2017)
Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome
(Elsevier B. V., 2015)
Li-Fraumeni syndrome (LFS) is a hereditary disorder that predisposes patients to several types of cancer and is associated with TP53 germline mutations. Turner syndrome (TS) is one of the most common aneuploidies in women. ...
The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations
(BioMed CentralLondon, 2014-04-28)
Background: The Li-Fraumeni syndrome (LFS) is an inherited rare cancer predisposition syndrome characterized by
a variety of early-onset tumors. Although germline mutations in the tumor suppressor gene TP53 account for ...
Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion
(BIOMED CENTRAL LTDLONDON, 2012)
Background: Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) syndromes are associated to germline TP53 mutations, and are characterized by the development of central nervous system tumors, sarcomas, adrenocortical carcinomas, ...
DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations
(Assoc Bras Divulg Cientifica, 2015-06-01)
Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant, hereditary cancer predisposition disorder. In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-Fraumeni-like syndrome. The occurrence ...