Browsing Biological Sciences by Author "Hainaut, Pierre"
Now showing items 1-7 of 7
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Ancestry of the brazilian TP53 c.1010G>A (p. Arg337His, R337H) founder mutation : clues from haplotyping of short tandem repeats on chromosome 17p
(2015) [Journal article]Rare germline mutations in TP53 (17p13.1) cause a highly penetrant predisposition to a specific spectrum of early cancers, defining the Li-Fraumeni Syndrome (LFS). A germline mutation at codon 337 (p.Arg337His, c1010G>A) ... -
Increased oxidative damage in carriers of the germline TP53 p.R337H mutation
(2012) [Journal article]Germline mutations in TP53 are the underlying defect of Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome, autosomal dominant disorders characterized by predisposition to multiple early onset cancers. In Brazil, ... -
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil
(2014) [Journal article]Germline TP53 mutations predispose individuals to multiple cancers and are associated with Li-Fraumeni/Li-Fraumeni-Like Syndromes (LFS/LFL). The founder mutation TP53 p.R337H is detected in 0.3% of the general population ... -
Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil
(2016) [Journal article]In Brazil, breast cancer is a public health care problem due to its high incidence and mortality rates. In this study, we investigated the prevalence of hereditary breast cancer syndromes (HBCS) in a population-based cohort ... -
The TP53 fertility network
(2012) [Journal article]The TP53 gene, first described in 1979, was identified as a tumor suppressor gene in 1989, when it became clear that its product, the p53 nuclear phosphoprotein, was frequently inactivated in many different forms of cancers. ... -
TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child - evidence for chimerism involving a common mutant founder haplotype : case report
(2011) [Journal article]Background: Gastric adenocarcinoma is rare in children and adolescents, with about 17 cases under age 21 in the world’s literature. We report a case of invasive well-differentiated metastatic gastric cancer in a Brazilian ... -
TP53 p.R337H is a conditional cancer-predisposing mutation : further evidence from a homozygous patient
(2013) [Journal article]Background: Adrenocortical carcinomas (ACCs) are among the most common childhood cancers occurring in infants affected with the Li-Fraumeni and Li- Fraumeni-like (LFS/LFL) syndromes, which are caused by dominant germline ...
