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Year Number of Results
2006 1
2007 1
2009 1
2010 2
2011 1
2012 2
2014 2
2015 2
2016 1
2017 4
2018 3
2019 3
2020 4
2021 2
2022 8
2023 2
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34 results

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Page 1
The Clinical Spectrum of PTEN Mutations.
Yehia L, Keel E, Eng C. Yehia L, et al. Annu Rev Med. 2020 Jan 27;71:103-116. doi: 10.1146/annurev-med-052218-125823. Epub 2019 Aug 21. Annu Rev Med. 2020. PMID: 31433956 Review.
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C. Tan MH, et al. Am J Hum Genet. 2011 Jan 7;88(1):42-56. doi: 10.1016/j.ajhg.2010.11.013. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194675 Free PMC article.
For pediatric patients, we identified highly sensitive criteria to guide PTEN mutation testing, with phenotypic features distinct from the adult setting. Our model improved sensitivity and positive predictive value for germline PTEN mutation relative to the NCCN 2010 crite …
For pediatric patients, we identified highly sensitive criteria to guide PTEN mutation testing, with phenotypic features distinct from the a …
Nervous system (NS) Tumors in Cancer Predisposition Syndromes.
Patil P, Pencheva BB, Patil VM, Fangusaro J. Patil P, et al. Neurotherapeutics. 2022 Oct;19(6):1752-1771. doi: 10.1007/s13311-022-01277-w. Epub 2022 Sep 2. Neurotherapeutics. 2022. PMID: 36056180 Free PMC article. Review.
These fundamental discoveries have also broadened the horizon of novel therapeutic possibilities and have helped to be better predictors of prognosis and survival. The treatment paradigm of specific NS tumors may also vary based on the patient's cancer predispositio …
These fundamental discoveries have also broadened the horizon of novel therapeutic possibilities and have helped to be better predictors …
The microbiome in PTEN hamartoma tumor syndrome.
Byrd V, Getz T, Padmanabhan R, Arora H, Eng C. Byrd V, et al. Endocr Relat Cancer. 2018 Mar;25(3):233-243. doi: 10.1530/ERC-17-0442. Epub 2017 Dec 12. Endocr Relat Cancer. 2018. PMID: 29233840 Free PMC article.
Germline PTEN mutations defining PTEN hamartoma tumor syndrome (PHTS) confer heritable predisposition to breast, endometrial, thyroid and other cancers with known age-related risks, but it remains impossible to predict if any individual will develop cancer. In the general …
Germline PTEN mutations defining PTEN hamartoma tumor syndrome (PHTS) confer heritable predisposition to breast, endometrial, thyroid and ot …
Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review.
Stanich PP, Pilarski R, Rock J, Frankel WL, El-Dika S, Meyer MM. Stanich PP, et al. World J Gastroenterol. 2014 Feb 21;20(7):1833-8. doi: 10.3748/wjg.v20.i7.1833. World J Gastroenterol. 2014. PMID: 24587660 Free PMC article. Review.
Of these, 5 patients underwent 4.2 colonoscopies at mean age 45.8 10.8 years. All were found to have colon polyps during their clinical course and polyp histology included adenoma, hyperplastic, ganglioneuroma and juvenile. ...
Of these, 5 patients underwent 4.2 colonoscopies at mean age 45.8 10.8 years. All were found to have colon polyps during their clinical c …
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Shelkowitz E, Stence NV, Neuberger I, Park KL, Saenz MS, Pao E, Oyama N, Friedman SD, Shaw DWW, Mirzaa GM. Shelkowitz E, et al. Pediatr Neurol. 2023 Oct;147:154-162. doi: 10.1016/j.pediatrneurol.2023.06.015. Epub 2023 Jun 22. Pediatr Neurol. 2023. PMID: 37619436
Only recently has PTEN been associated with cortical malformations, and analyses of their prognostic significance have been limited. METHODS: Retrospective neuroimaging analysis and detailed chart review were conducted on 20 participants identified with pathogenic or likel …
Only recently has PTEN been associated with cortical malformations, and analyses of their prognostic significance have been limited. …
Breast cancer risk and clinical implications for germline PTEN mutation carriers.
Ngeow J, Sesock K, Eng C. Ngeow J, et al. Breast Cancer Res Treat. 2017 Aug;165(1):1-8. doi: 10.1007/s10549-015-3665-z. Epub 2015 Dec 23. Breast Cancer Res Treat. 2017. PMID: 26700035 Review.
Increased screening for the various component cancers as well as predictive testing in first-degree relatives is recommended. Prophylactic mastectomy may be considered especially if breast tissue is dense or if repeated breast biopsies have been necessary. ...
Increased screening for the various component cancers as well as predictive testing in first-degree relatives is recommended. Prophyl …
Renal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome : Clinicopathologic Study of 12 Renal Cell Carcinomas From 9 Patients and Association With Intrarenal "Lipomas".
Kozman D, Kao CS, Nguyen JK, Smith SC, Kehr EL, Tretiakova M, Przybycin CG, Williamson SR, Argani P, Eng C, Campbell SC, McKenney JK, Alaghehbandan R. Kozman D, et al. Am J Surg Pathol. 2023 Sep 1;47(9):1001-1010. doi: 10.1097/PAS.0000000000002079. Epub 2023 Jun 26. Am J Surg Pathol. 2023. PMID: 37357918
The aim of this study was to assess the histopathologic spectrum of renal tumors in patients with PTEN hamartoma tumor syndrome (PHTS), with a specific focus on potential features predictive of the underlying syndrome. A multi-institutional study was conducted to obtain cl …
The aim of this study was to assess the histopathologic spectrum of renal tumors in patients with PTEN hamartoma tumor syndrome (PHTS), with …
Managing patients at genetic risk of breast cancer.
Pederson HJ, Padia SA, May M, Grobmyer S. Pederson HJ, et al. Cleve Clin J Med. 2016 Mar;83(3):199-206. doi: 10.3949/ccjm.83a.14057. Cleve Clin J Med. 2016. PMID: 26974991 Free article. Review.
34 results