Title |
Characterization of the rs2802292 SNP identifies FOXO3Aas a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes
|
---|---|
Published in |
BMC Cancer, September 2014
|
DOI | 10.1186/1471-2407-14-661 |
Pubmed ID | |
Authors |
Giovanna Forte, Valentina Grossi, Valentina Celestini, Giuseppe Lucisano, Marco Scardapane, Dora Varvara, Margherita Patruno, Rosanna Bagnulo, Daria Loconte, Laura Giunti, Antonio Petracca, Sabrina Giglio, Maurizio Genuardi, Fabio Pellegrini, Nicoletta Resta, Cristiano Simone |
Abstract |
Hamartomatous polyposis syndromes (HPS) are inherited conditions associated with high cancer risk. They include the Peutz-Jeghers and the PTEN hamartoma tumor syndromes, which are caused by mutations in the LKB1 and PTEN genes, respectively. Estimation of cancer risk is crucial in order to optimize surveillance, but no prognostic markers are currently available for these conditions. Our study relies on a 'signal transduction' hypothesis based on the crosstalk between LKB1/AMPK and PI3K/PTEN/Akt signaling at the level of the tumor suppressor protein FoxO3A. Interestingly, the FOXO3A rs2802292 G-allele was shown to be associated with longevity, reduced risk of aging-related diseases and increased expression of FoxO3A mRNA. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 4 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 2 | 50% |
Practitioners (doctors, other healthcare professionals) | 1 | 25% |
Members of the public | 1 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
France | 1 | 6% |
Unknown | 15 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 7 | 44% |
Student > Postgraduate | 2 | 13% |
Student > Bachelor | 2 | 13% |
Lecturer | 1 | 6% |
Other | 1 | 6% |
Other | 0 | 0% |
Unknown | 3 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 5 | 31% |
Biochemistry, Genetics and Molecular Biology | 3 | 19% |
Agricultural and Biological Sciences | 2 | 13% |
Nursing and Health Professions | 1 | 6% |
Immunology and Microbiology | 1 | 6% |
Other | 1 | 6% |
Unknown | 3 | 19% |