Significance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome.
AffiliationCRC Cancer Genetics Group, Paterson Institute for Cancer Research, Wilmslow Road, M20 4BX, Manchester, UK. firstname.lastname@example.org
MetadataShow full item record
AbstractMany polymorphisms have been reported in the TP53 gene. Some of these are within the coding region, and may affect the function of the p53 protein, others are within introns or non-coding regions, and their significance is unclear. Recently, a number of publications have claimed that polymorphisms within intron 6 are responsible for inherited predisposition to childhood malignancies, familial breast cancer, and Li-Fraumeni syndrome (LFS). We find no evidence for intron 6 sequence variants predisposing to LFS in our cohort of families and, furthermore, we show that some of the conclusions of other groups cannot be supported by data from our analysis.
CitationSignificance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome. 2001, 129 (1):85-7 Cancer Genet. Cytogenet.
JournalCancer Genetics and Cytogenetics
- TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome.
- Authors: Ribi S, Baumhoer D, Lee K, Edison, Teo AS, Madan B, Zhang K, Kohlmann WK, Yao F, Lee WH, Hoi Q, Cai S, Woo XY, Tan P, Jundt G, Smida J, Nathrath M, Sung WK, Schiffman JD, Virshup DM, Hillmer AM
- Issue date: 2015 Apr 10
- The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.
- Authors: Silva AG, Krepischi AC, Pearson PL, Hainaut P, Rosenberg C, Achatz MI
- Issue date: 2014 Apr 28
- The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations.
- Authors: Finkova A, Vazna A, Hrachovina O, Bendova S, Prochazkova K, Sedlacek Z
- Issue date: 2009 Aug
- Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.
- Authors: Penkert J, Schmidt G, Hofmann W, Schubert S, Schieck M, Auber B, Ripperger T, Hackmann K, Sturm M, Prokisch H, Hille-Betz U, Mark D, Illig T, Schlegelberger B, Steinemann D
- Issue date: 2018 Aug 7
- TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.
- Authors: Andrade RC, Dos Santos AC, de Aguirre Neto JC, Nevado J, Lapunzina P, Vargas FR
- Issue date: 2017 Apr