Cancer screening recommendations for individuals with Li-Fraumeni syndrome

CP Kratz, MI Achatz, L Brugieres, T Frebourg… - Clinical Cancer …, 2017 - AACR
Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by
germline mutations of the TP53 tumor suppressor gene encoding p53, a transcription factor …

TP53 mutations in human cancers: origins, consequences, and clinical use

M Olivier, M Hollstein, P Hainaut - Cold Spring Harbor …, 2010 - cshperspectives.cshlp.org
Somatic mutations in the TP53 gene are one of the most frequent alterations in human
cancers, and germline mutations are the underlying cause of Li-Fraumeni syndrome, which …

TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes

A Petitjean, MIW Achatz, AL Borresen-Dale, P Hainaut… - Oncogene, 2007 - nature.com
A large amount of data is available on the functional impact of missense mutations in TP53
and on mutation patterns in many different cancers. New data on mutant p53 protein …

Inherited TP53 mutations and the Li–Fraumeni syndrome

T Guha, D Malkin - Cold Spring Harbor …, 2017 - perspectivesinmedicine.cshlp.org
Li–Fraumeni syndrome (LFS) is a complex hereditary cancer predisposition disorder
associated with early-onset cancers in diverse tissues of origin. Germline TP53 mutations …

p53 polymorphisms: cancer implications

C Whibley, PDP Pharoah, M Hollstein - Nature reviews cancer, 2009 - nature.com
The normal functioning of p53 is a potent barrier to cancer. Tumour-associated mutations in
TP53, typically single nucleotide substitutions in the coding sequence, are a hallmark of …

JAK‐STAT core cancer pathway: an integrative cancer interactome analysis

F Erdogan, TB Radu, A Orlova… - Journal of cellular …, 2022 - Wiley Online Library
Through a comprehensive review and in silico analysis of reported data on STAT‐linked
diseases, we analysed the communication pathways and interactome of the seven STATs in …

Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence

B Zhang, A Beeghly-Fadiel, J Long, W Zheng - The lancet oncology, 2011 - thelancet.com
Background More than 1000 reports have been published in the past two decades on
associations between variants in candidate genes and risk of breast cancer. Results have …

G-quadruplex structures in TP53 intron 3: role in alternative splicing and in production of p53 mRNA isoforms

V Marcel, PLT Tran, C Sagne, G Martel-Planche… - …, 2011 - academic.oup.com
The tumor suppressor gene TP53, encoding p53, is expressed as several transcripts. The
fully spliced p53 (FSp53) transcript encodes the canonical p53 protein. The alternatively …

Polymorphisms in the p53 pathway

EC Pietsch, O Humbey, ME Murphy - Oncogene, 2006 - nature.com
The p53 tumor suppressor gene continues to be distinguished as the most frequently
mutated gene in human cancer; this gene can be found mutated in up to 50% of human …

Medical guidelines for Li–Fraumeni syndrome 2019, version 1.1

T Kumamoto, F Yamazaki, Y Nakano, C Tamura… - International Journal of …, 2021 - Springer
Li–Fraumeni syndrome (LFS) is a hereditary tumor that exhibits autosomal dominant
inheritance. LFS develops in individuals with a pathogenic germline variant of the cancer …