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 …

Germline TP53 mutations in patients with early-onset colorectal cancer in the colon cancer family registry

MB Yurgelun, S Masciari, VA Joshi, RC Mercado… - JAMA …, 2015 - jamanetwork.com
Importance Li-Fraumeni syndrome, usually characterized by germlineTP53mutations, is
associated with markedly elevated lifetime risks of multiple cancers, and has been linked to …

Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population

LN Gallardo-Alvarado, MT Tusié-Luna, MI Tussié-Luna… - BMC cancer, 2019 - Springer
Background Heterozygous germline TP53 gene mutations result in Li-Fraumeni Syndrome
(LFS). Breast cancer (BC) is the most frequent tumor in young women with LFS. An important …

Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

T Frebourg, S Bajalica Lagercrantz, C Oliveira… - European Journal of …, 2020 - nature.com
Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of
cancers related to germline alterations of TP53 has drastically changed:(i) germline TP53 …

The TP53 codon 72 polymorphism may affect the function of TP53 mutations in breast carcinomas but not in colorectal carcinomas

A Langerød, IRK Bukholm, A Bregard… - … Biomarkers & Prevention, 2002 - AACR
Abstract An Arg/Pro polymorphism in codon 72 of the TP53 gene was analyzed in blood
samples from 390 breast and 162 colorectal cancer patients previously investigated for …

Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li–Fraumeni cancer predisposition syndrome

H Ariffin, P Hainaut, A Puzio-Kuter… - Proceedings of the …, 2014 - National Acad Sciences
The Li–Fraumeni syndrome (LFS) and its variant form (LFL) is a familial predisposition to
multiple forms of childhood, adolescent, and adult cancers associated with germ-line …

UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

H Hanson, AF Brady, G Crawford, RA Eeles… - Journal of medical …, 2021 - jmg.bmj.com
Constitutional pathogenic variants in TP53 are associated with Li-Fraumeni syndrome or the
more recently described heritable TP53-related cancer syndrome and are associated with …

Surveillance recommendations for patients with germline TP53 mutations

ML Ballinger, G Mitchell… - Current opinion in …, 2015 - journals.lww.com
Surveillance recommendations for patients with germline TP53... : Current Opinion in
Oncology Surveillance recommendations for patients with germline TP53 mutations : Current …

p53 from basic research to clinical applications.

O Tominaga, R Hamelin, Y Remvikos… - Critical reviews in …, 1992 - europepmc.org
Mutations on the TP53 tumor suppressor gene and allele loss on chromosome 17p, where
this gene has been located, are among the most frequent alterations yet identified in human …

Joint effects of germ-line p53 mutation and sex on cancer risk in Li-Fraumeni syndrome

CC Wu, S Shete, CI Amos, LC Strong - Cancer research, 2006 - AACR
Germ-line p53 mutations have been identified in most families with Li-Fraumeni syndrome
(LFS). For germ-line p53 mutation carriers, there is considerable variability with respect to …