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 …

Penetrance of different cancer types in families with Li-Fraumeni syndrome: A validation study using multicenter cohorts

SJ Shin, EB Dodd-Eaton, G Peng, J Bojadzieva… - Cancer research, 2020 - AACR
Li-Fraumeni syndrome (LFS) is a rare hereditary cancer syndrome associated with an
autosomal-dominant mutation inheritance in the TP53 tumor suppressor gene and a wide …

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 …

Somatic TP53 mutations in the era of genome sequencing

P Hainaut, GP Pfeifer - Cold Spring …, 2016 - perspectivesinmedicine.cshlp.org
Amid the complexity of genetic alterations in human cancer, TP53 mutation appears as an
almost invariant component, representing by far the most frequent genetic alteration overall …

Common Genetic Variation in TP53 Is Associated with Lung Cancer Risk and Prognosis in African Americans and Somatic Mutations in Lung Tumors

LE Mechanic, ED Bowman, JA Welsh, MA Khan… - … Biomarkers & Prevention, 2007 - AACR
Lung cancer is primarily caused by tobacco smoking, but susceptibility is likely modified by
common genetic variation. In response to many forms of cellular stress, including DNA …

Routine TP53 testing for breast cancer under age 30: ready for prime time?

JM McCuaig, SR Armel, A Novokmet, OM Ginsburg… - Familial cancer, 2012 - Springer
It is well known that early-onset breast cancer may be due to an inherited predisposition.
When evaluating women diagnosed with breast cancer under age 30, two important …

Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations

T Soussi, S Kato, PP Levy, C Ishioka - Human mutation, 2005 - Wiley Online Library
TP53 alteration is the most frequent genetic alteration found in human cancers. To date,
more than 15,000 tumors with TP53 mutations have been published, leading to the …

Germline TP53 Testing in Breast Cancers: Why, When and How?

DG Evans, ER Woodward, S Bajalica-Lagercrantz… - Cancers, 2020 - mdpi.com
Simple Summary TP53 variants detected in blood represent a main genetic cause of breast
cancers occurring before 31 years of age. TP53 being included in most of the cancer gene …

Germ-line p53 Mutations Predispose to a Wide Spectrum of Early-onset Cancers

KE Nichols, D Malkin, JE Garber, JF Fraumeni Jr… - … Biomarkers & Prevention, 2001 - AACR
Germ-line p53 mutations are associated with dominantly inherited Li-Fraumeni syndrome
(LFS), which features early-onset sarcomas of bone and soft tissues, carcinomas of the …

Screening for TP53 rearrangements in families with the Li–Fraumeni syndrome reveals a complete deletion of the TP53 gene

G Bougeard, L Brugieres, A Chompret, P Gesta… - Oncogene, 2003 - nature.com
The absence of detectable germline TP53 mutations in a fraction of families with Li–
Fraumeni syndrome (LFS) has suggested the involvement of other genes, but this …