Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2010 2
2011 1
2012 2
2013 2
2015 1
2017 4
2018 5
2019 4
2020 4
2021 4
2022 12
2023 8
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

45 results

Results by year

Filters applied: . Clear all
Page 1
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
Mighell TL, Evans-Dutson S, O'Roak BJ. Mighell TL, et al. Am J Hum Genet. 2018 May 3;102(5):943-955. doi: 10.1016/j.ajhg.2018.03.018. Epub 2018 Apr 26. Am J Hum Genet. 2018. PMID: 29706350 Free PMC article.
Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and autism spectrum disorder (ASD). ...Variant functional scores can reliably discriminate likely pathogenic from benig …
Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndro …
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.
Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome are allelic, defined by germline PTEN mutations, and collectively referred to as PTEN hamartoma tumor syndrome. To date, there are no existing criteria based on large prospective patient cohort …
Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome are allelic, defined by germline PTEN mutations, and collectively referred to as …
Gastrointestinal manifestations in PTEN hamartoma tumor syndrome.
D'Ermo G, Genuardi M. D'Ermo G, et al. Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101792. doi: 10.1016/j.bpg.2022.101792. Epub 2022 Mar 17. Best Pract Res Clin Gastroenterol. 2022. PMID: 35988965 Review.
The PTEN hamartoma tumor syndrome (PHTS) is a heterogeneous set of multisystem disorders caused by germline pathogenic variants in the PTEN tumor suppressor gene. ...A number of additional manifestations, including eosinophilic gastrointestinal disorde …
The PTEN hamartoma tumor syndrome (PHTS) is a heterogeneous set of multisystem disorders caused by germline path …
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.
PTEN Hamartoma Tumor syndrome (PHTS) encompasses a clinical spectrum of heritable disorders including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, and Proteus and Proteus-like syndrome that are associated with germline mutations in the PTEN …
PTEN Hamartoma Tumor syndrome (PHTS) encompasses a clinical spectrum of heritable disorders including Cowden syn …
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A; PTEN Study Group; Mensenkamp AR, Vos JR. Hendricks LAJ, et al. Eur J Med Genet. 2022 Dec;65(12):104632. doi: 10.1016/j.ejmg.2022.104632. Epub 2022 Oct 18. Eur J Med Genet. 2022. PMID: 36270489 Free article.
BACKGROUND: Pathogenic PTEN germline variants cause PTEN Hamartoma Tumor Syndrome (PHTS), a rare disease with a variable genotype and phenotype. ...A trend towards 2 times more often truncating variants was observed in adults (OR = 2.3, 95%CI = …
BACKGROUND: Pathogenic PTEN germline variants cause PTEN Hamartoma Tumor Syndrome (PHTS), a rare disease with 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 predisposition syndr …
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 dev …
Germline PTEN mutations defining PTEN hamartoma tumor syndrome (PHTS) confer heritable predisposition to breast, …
Brain morphological analysis in PTEN hamartoma tumor syndrome.
Shiohama T, Levman J, Vasung L, Takahashi E. Shiohama T, et al. Am J Med Genet A. 2020 May;182(5):1117-1129. doi: 10.1002/ajmg.a.61532. Epub 2020 Mar 12. Am J Med Genet A. 2020. PMID: 32162846 Free PMC article.
PTEN hamartoma tumor syndrome (PHTS) is a spectrum of hereditary cancer syndromes caused by germline mutations in PTEN. ...Sixteen structural T1-weighted and 9 diffusion-weighted MR images from 12 PHTS patients and neurotypical controls were used for s …
PTEN hamartoma tumor syndrome (PHTS) is a spectrum of hereditary cancer syndromes caused by germline mutations i …
Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature review.
Milani D, Dolci A, Muller I, Pavesi MA, Runza L, Kuhn E, Natacci F, Peissel B, Ricci MT, Despini L, Tomasello G, Grossi F, Garrone O, Gambini D. Milani D, et al. Endocrine. 2023 Jul;81(1):98-106. doi: 10.1007/s12020-023-03313-x. Epub 2023 Jan 23. Endocrine. 2023. PMID: 36690897 Review.
PURPOSE: PTEN hamartoma tumor syndrome (PHTS) comprises a group of rare genetic conditions caused by germline mutations in PTEN gene and characterized by development of both benign and malignant lesions in many body tissues. ...METHODS: A retrospective …
PURPOSE: PTEN hamartoma tumor syndrome (PHTS) comprises a group of rare genetic conditions caused by germline mu …
Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.
Nathan N, Keppler-Noreuil KM, Biesecker LG, Moss J, Darling TN. Nathan N, et al. Dermatol Clin. 2017 Jan;35(1):51-60. doi: 10.1016/j.det.2016.07.001. Dermatol Clin. 2017. PMID: 27890237 Free PMC article. Review.
Postzygotic mutations in PTEN or TSC1/TSC2 cause mosaic forms of PTEN hamartoma tumor syndrome or tuberous sclerosis complex, respectively. Distinct features observed in these mosaic conditions in part reflect differences in embryological timing …
Postzygotic mutations in PTEN or TSC1/TSC2 cause mosaic forms of PTEN hamartoma tumor syndrome or tuberous scler …
45 results