TP53
HGNC ↗8 article(s) in the watch · Cancer genetics · Bioinformatics & AI
The tumour-suppressor gene TP53 encodes p53, the "guardian of the genome". Germline pathogenic TP53 variants cause Li-Fraumeni syndrome, an autosomal-dominant hereditary cancer predisposition (sarcomas, early-onset breast cancer, brain tumours, adrenocortical carcinoma).
Curated publications
The biology of hypomorphic TP53 variants and implications for clinical management.
Li-Fraumeni syndrome / hypomorphic TP53 variants
Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands.
Li-Fraumeni syndrome (LFS) — TP53 hereditary multi-cancer predisposition
A zero-parameter framework for accurate TP53 missense variant functional classification.
TP53 missense variant functional classification / Li-Fraumeni syndrome
A zero-parameter first-principles gate framework for full-length TP53 missense variant interpretation
Classification of *TP53* missense variants — first-principles approach
European Colonial Echoes in Cancer Risk: Lessons from the TP53 p.R337H Founder Variant in Brazil
Li-Fraumeni syndrome (attenuated) — pan-cancer predisposition
Interpreting TP53 pathogenic variants: diagnostic complexities of mosaic and germline variants.
Li-Fraumeni syndrome / mosaic TP53 variants
Genotypic and phenotypic characteristics of germline TP53 variant carriers: experience from two cancer genetic counseling units.
Li-Fraumeni syndrome
Proton therapy in young breast cancer patients with germline TP53 and ATM mutations: a case series.
Breast cancer — proton therapy in carriers of germline TP53 and ATM mutations