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 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
Histopathologic features of breast cancer in Li–Fraumeni syndrome
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DOI: 10.1038/s41379-020-0610-4
Abstract: Breast cancer is the most common malignancy in female patients with Li–Fraumeni syndrome (LFS), a rare autosomal dominant hereditary syndrome characterized by germline TP53 mutations. Recent studies have shown that the majority of these tumors… read more here.
Keywords: germline tp53; fraumeni syndrome; expression; breast cancer ... See more keywords