Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Oncology"
DOI: 10.1001/jamaoncol.2016.6389
Abstract: Importance Li Fraumeni syndrome (LFS) is associated with a wide variety of tumors; nevertheless, thyroid carcinoma has not been evaluated in this syndrome. Due to the Brazilian founder mutation p.R337H, some tumors that have not… read more here.
Keywords: thyroid carcinoma; tp53 r337h; mutation;
What 20 years of research has taught us about the TP53 p.R337H mutation
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DOI: 10.1002/cncr.33143
Abstract: The p53 tumor suppressor transcriptionally regulates a myriad of genes involved in cell cycle control, DNA repair, cell survival, and cell metabolism and represents one of the most well‐studied inhibitors of tumorigenesis. Since the discovery… read more here.
Keywords: cancer; r337h mutation; tp53 r337h; tp53 ... See more keywords
Frequency of the TP53 p.R337H mutation in a Brazilian cohort of pediatric patients with solid tumors
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DOI: 10.1007/s11033-020-05655-5
Abstract: TP53 p.R337H germline mutation is highly prevalent in the Southern region of Brazil. We sought to investigate TP53 p.R337H mutation in pediatric tumor samples from a population settled in a geographic area of high prevalence… read more here.
Keywords: frequency tp53; r337h mutation; tp53 r337h; mutation ... See more keywords
XAF1 as a modifier of p53 function and cancer susceptibility
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DOI: 10.1126/sciadv.aba3231
Abstract: The XAF1-E134* variant increases the cancer risk for carriers of the TP53-R337H allele. Cancer risk is highly variable in carriers of the common TP53-R337H founder allele, possibly due to the influence of modifier genes. Whole-genome… read more here.
Keywords: xaf1 e134; xaf1 modifier; tp53 r337h; cancer ... See more keywords