Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23673
Abstract: Reports of variable cancer penetrance in Li–Fraumeni syndrome (LFS) have raised questions regarding the prevalence of pathogenic germline TP53 variants. We previously reported higher‐than‐expected population prevalence estimates in sequencing databases composed of individuals unselected for… read more here.
Keywords: prevalence estimates; tp53 variants; prevalence; germline tp53 ... See more keywords
High prevalence of cancer‐associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23717
Abstract: The 1,000 genome project, the Exome Aggregation Consortium (ExAC) or the Genome Aggregation database (gnomAD) datasets, were developed to provide large‐scale reference data of genetic variations for various populations to filter out common benign variants… read more here.
Keywords: tp53 variants; caution; high prevalence; prevalence cancer ... See more keywords
High Prevalence of Somatic Oncogenic Driver Alterations in Patients With NSCLC and Li-Fraumeni Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Thoracic Oncology"
DOI: 10.1016/j.jtho.2020.03.005
Abstract: Abstract Introduction Actionable somatic molecular alterations are found in 15% to 20% of NSCLC in Europe. NSCLC is a tumor observed in patients with germline TP53 variants causing Li-Fraumeni syndrome (LFS), but its somatic molecular… read more here.
Keywords: somatic oncogenic; tp53 variants; patients nsclc; oncogenic driver ... See more keywords
Clinical significance of TP53 variants as possible secondary findings in tumor-only next-generation sequencing
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DOI: 10.1038/s10038-019-0681-6
Abstract: In tumor-only next-generation sequencing (NGS), identified variants have the potential to be secondary findings (SFs), but they require verification through additional germline testing. In the present study, 194 patients with advanced cancer who underwent tumor-only… read more here.
Keywords: tp53 variants; tumor next; next generation; generation sequencing ... See more keywords
Impact of TP53 gene variants on prognosis and survival of childhood acute lymphoblastic leukemia
Sign Up to like & getrecommendations! Published in 2023 at "Scandinavian Journal of Clinical and Laboratory Investigation"
DOI: 10.1080/00365513.2023.2195682
Abstract: Abstract The tumor suppressor protein 53 (TP53) gene is one of the most studied genes in cancer. Although TP53 variants are rare events in acute leukemia, recent observations showed that relapse samples might harbor TP53… read more here.
Keywords: tp53 variants; tp53 gene; leukemia; childhood acute ... See more keywords
TP53 variants in p53 signatures and the clonality of STICs in RRSO samples
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Gynecologic Oncology"
DOI: 10.3802/jgo.2022.33.e50
Abstract: Objective Precursor lesions may be identified in fallopian tube tissue after risk-reducing salpingo-oophorectomy (RRSO) in patients with pathogenic variants of BRCA1/2. Serous tubal intraepithelial carcinoma (STIC) is considered a precursor of high-grade serous carcinoma, whereas… read more here.
Keywords: variants p53; tp53 variants; risk; p53 ... See more keywords