Anaplastic thyroid carcinoma: from clinicopathology to genetics and advanced therapies

E Molinaro, C Romei, A Biagini, E Sabini… - Nature Reviews …, 2017 - nature.com
Anaplastic thyroid carcinoma (ATC) is a rare malignancy, accounting for 1–2% of all thyroid
cancers. Although rare, ATC accounts for the majority of deaths from thyroid carcinoma. ATC …

[HTML][HTML] ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia—update on methodological approaches and results interpretation

J Malcikova, E Tausch, D Rossi, LA Sutton, T Soussi… - Leukemia, 2018 - nature.com
In chronic lymphocytic leukemia (CLL), TP53 gene defects, due to deletion of the 17p13
locus and/or mutation (s) within the TP53 gene, are associated with resistance to …

[HTML][HTML] TP53 aberrations in chronic lymphocytic leukemia: an overview of the clinical implications of improved diagnostics

E Campo, F Cymbalista, P Ghia, U Jäger… - …, 2018 - ncbi.nlm.nih.gov
Chronic lymphocytic leukemia is associated with a highly heterogeneous disease course in
terms of clinical outcomes and responses to chemoimmunotherapy. This heterogeneity is …

[HTML][HTML] Heterogeneity of TP53 Mutations and P53 Protein Residual Function in Cancer: Does It Matter?

P Monti, P Menichini, A Speciale, G Cutrona… - Frontiers in …, 2020 - frontiersin.org
The human TP53 locus, located on the short arm of chromosome 17, encodes a tumour
suppressor protein which functions as a tetrameric transcription factor capable of regulating …

Contemporary sarcoma diagnosis, genetics, and genomics

IM Schaefer, GM Cote, JL Hornick - Journal of Clinical Oncology, 2018 - ascopubs.org
Sarcomas include diverse mesenchymal neoplasms with widely varied prognosis, clinical
behavior, and treatment. Owing to their rarity and histologic overlap, accurate diagnosis of …

How mutations shape p53 interactions with the genome to promote tumorigenesis and drug resistance

T Stiewe, TE Haran - Drug Resistance Updates, 2018 - Elsevier
The tumor suppressive transcription factor p53 regulates a wide array of cellular processes
that confer upon cells an essential protection against cancer development. Wild-type p53 …

[HTML][HTML] The emerging landscape of p53 isoforms in physiology, cancer and degenerative diseases

T Anbarasan, JC Bourdon - International journal of molecular sciences, 2019 - mdpi.com
p53, first described four decades ago, is now established as a master regulator of cellular
stress response, the “guardian of the genome”. p53 contributes to biological robustness by …

An update on the central nervous system manifestations of Li–Fraumeni syndrome

BA Orr, MR Clay, EM Pinto, C Kesserwan - Acta neuropathologica, 2020 - Springer
Abstract Li–Fraumeni syndrome (LFS), caused by the germline mutations in the TP53 gene,
leads to significant lifetime risk to cancer in the central nervous system. Recognition of LFS …

[HTML][HTML] Computational analysis of TP53 mutational landscape unveils key prognostic signatures and distinct pathobiological pathways in head and neck squamous …

VCA Caponio, G Troiano, I Adipietro… - British journal of …, 2020 - nature.com
Background Mutations of the tumour-suppressor gene TP53 are the most frequent somatic
genomic alterations in head and neck squamous cell carcinoma (HNSCC). However, it is not …

[HTML][HTML] Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene

F Doffe, V Carbonnier, M Tissier, B Leroy… - Cell Death & …, 2021 - nature.com
Infrequent and rare genetic variants in the human population vastly outnumber common
ones. Although they may contribute significantly to the genetic basis of a disease, these …