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Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.
Bennett KL, Mester J, Eng C. Bennett KL, et al. JAMA. 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877. JAMA. 2010. PMID: 21177507 Free PMC article.
Other mechanisms of loss of function such as hypermethylation, which should result in underexpression of PTEN or of KILLIN, a novel tumor suppressor transcribed in the opposite direction, may account for the remainder of Cowden syndrome and Cowden-like syndrome …
Other mechanisms of loss of function such as hypermethylation, which should result in underexpression of PTEN or of KILLIN, a novel tumor su …
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E. Dominguez-Valentin M, et al. Fam Cancer. 2018 Jan;17(1):141-153. doi: 10.1007/s10689-017-0011-0. Fam Cancer. 2018. PMID: 28608266
Protein- and RNA splicing-dedicated in silico analyses were performed for all variants of unknown significance (VUS). Variants predicted as the more likely to affect splicing were experimentally analyzed by minigene assay. ...
Protein- and RNA splicing-dedicated in silico analyses were performed for all variants of unknown significance (VUS). Variants predicted …
Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study.
Mahdi H, Mester JL, Nizialek EA, Ngeow J, Michener C, Eng C. Mahdi H, et al. Cancer. 2015 Mar 1;121(5):688-96. doi: 10.1002/cncr.29106. Epub 2014 Nov 5. Cancer. 2015. PMID: 25376524 Free PMC article.
KLLN_Me+ patients were on average 8 years younger than KLLN_Me- patients (44 vs 52 years, P = .018). Predictors of KLLN_Me+ were a younger age and a higher CC score. On the other hand, no clinical predictors of SDH_var+ were found. CONCLUSIONS: Clinical pr …
KLLN_Me+ patients were on average 8 years younger than KLLN_Me- patients (44 vs 52 years, P = .018). Predictors of KLLN_Me+ were a yo …
Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.
Ni Y, He X, Chen J, Moline J, Mester J, Orloff MS, Ringel MD, Eng C. Ni Y, et al. Hum Mol Genet. 2012 Jan 15;21(2):300-10. doi: 10.1093/hmg/ddr459. Epub 2011 Oct 6. Hum Mol Genet. 2012. PMID: 21979946 Free PMC article.
SDH(var+) cells showed stabilized and hyperactivated hypoxia inducible factor (HIF)1alpha signaling. Most interestingly, we also observed the loss of steady-state p53 in the majority of SDH(var+) cells. ...
SDH(var+) cells showed stabilized and hyperactivated hypoxia inducible factor (HIF)1alpha signaling. Most interestingly, we also observed …
Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes.
Ngeow J, He X, Mester JL, Lei J, Romigh T, Orloff MS, Milas M, Eng C. Ngeow J, et al. J Clin Endocrinol Metab. 2012 Dec;97(12):E2320-7. doi: 10.1210/jc.2012-2944. Epub 2012 Oct 12. J Clin Endocrinol Metab. 2012. PMID: 23066114 Free PMC article.

Ninety-six percent (26 of 27) of PTEN(mut+) patients had blood PTEN protein levels in the lowest quartile as compared with 25% (139 of 555) of PTEN(wt/vus) patients (P < 0.001). Low blood PTEN levels predicted for PTEN(mut+) cases with a 99.76% negative predictive

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Ninety-six percent (26 of 27) of PTEN(mut+) patients had blood PTEN protein levels in the lowest quartile as compared with 25% (139 of 555) …