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Items: 1 to 20 of 154


A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.

Pradella LM, Evangelisti C, Ligorio C, Ceccarelli C, Neri I, Zuntini R, Amato LB, Ferrari S, Martelli AM, Gasparre G, Turchetti D.

BMC Cancer. 2014 Feb 6;14:70. doi: 10.1186/1471-2407-14-70.


Breast cancer risk and clinical implications for germline PTEN mutation carriers.

Ngeow J, Sesock K, Eng C.

Breast Cancer Res Treat. 2017 Aug;165(1):1-8. doi: 10.1007/s10549-015-3665-z. Epub 2015 Dec 23. Review.


Correlation between activation of PI3K/AKT/mTOR pathway and prognosis of breast cancer in Chinese women.

Deng L, Chen J, Zhong XR, Luo T, Wang YP, Huang HF, Yin LJ, Qiu Y, Bu H, Lv Q, Zheng H.

PLoS One. 2015 Mar 27;10(3):e0120511. doi: 10.1371/journal.pone.0120511. eCollection 2015.


Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer.

Figer A, Kaplan A, Frydman M, Lev D, Paswell J, Papa MZ, Goldman B, Friedman E.

Clin Genet. 2002 Oct;62(4):298-302.


The genetic variants in the PTEN/PI3K/AKT pathway predict susceptibility and CE(A)F chemotherapy response to breast cancer and clinical outcomes.

Li X, Zhang R, Liu Z, Li S, Xu H.

Oncotarget. 2017 Mar 21;8(12):20252-20265. doi: 10.18632/oncotarget.15690.


Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

Lynch ED, Ostermeyer EA, Lee MK, Arena JF, Ji H, Dann J, Swisshelm K, Suchard D, MacLeod PM, Kvinnsland S, Gjertsen BT, Heimdal K, Lubs H, Møller P, King MC.

Am J Hum Genet. 1997 Dec;61(6):1254-60.


Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C.

Am J Hum Genet. 2003 Aug;73(2):404-11. Epub 2003 Jul 3.


Characterization of a novel PTEN mutation in MDA-MB-453 breast carcinoma cell line.

Singh G, Odriozola L, Guan H, Kennedy CR, Chan AM.

BMC Cancer. 2011 Nov 21;11:490. doi: 10.1186/1471-2407-11-490.


Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C.

Am J Hum Genet. 2013 Jan 10;92(1):76-80. doi: 10.1016/j.ajhg.2012.10.021. Epub 2012 Dec 13.


PTEN lipid phosphatase activity and proper subcellular localization are necessary and sufficient for down-regulating AKT phosphorylation in the nucleus in Cowden syndrome.

He X, Saji M, Radhakrishnan D, Romigh T, Ngeow J, Yu Q, Wang Y, Ringel MD, Eng C.

J Clin Endocrinol Metab. 2012 Nov;97(11):E2179-87. doi: 10.1210/jc.2012-1991. Epub 2012 Sep 7.


Frequent mutational activation of the PI3K-AKT pathway in trastuzumab-resistant breast cancer.

Chandarlapaty S, Sakr RA, Giri D, Patil S, Heguy A, Morrow M, Modi S, Norton L, Rosen N, Hudis C, King TA.

Clin Cancer Res. 2012 Dec 15;18(24):6784-91. doi: 10.1158/1078-0432.CCR-12-1785. Epub 2012 Oct 23.


A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease.

Vega A, Torres J, Torres M, Cameselle-Teijeiro J, Macia M, Carracedo A, Pulido R.

J Invest Dermatol. 2003 Dec;121(6):1356-9.


Mutational characterization of individual breast tumors: TP53 and PI3K pathway genes are frequently and distinctively mutated in different subtypes.

Boyault S, Drouet Y, Navarro C, Bachelot T, Lasset C, Treilleux I, Tabone E, Puisieux A, Wang Q.

Breast Cancer Res Treat. 2012 Feb;132(1):29-39. doi: 10.1007/s10549-011-1518-y. Epub 2011 Apr 22.


Cowden's disease: clinical and molecular genetic findings in a patient with a novel PTEN germline mutation.

Reifenberger J, Rauch L, Beckmann MW, Megahed M, Ruzicka T, Reifenberger G.

Br J Dermatol. 2003 May;148(5):1040-6.


Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

Fackenthal JD, Marsh DJ, Richardson AL, Cummings SA, Eng C, Robinson BG, Olopade OI.

J Med Genet. 2001 Mar;38(3):159-64.


PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?

Mester JL, Moore RA, Eng C.

Oncologist. 2013;18(10):1083-90. doi: 10.1634/theoncologist.2013-0174. Epub 2013 Sep 13.


Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.

Bennett KL, Mester J, Eng C.

JAMA. 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877.


Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.

Banneau G, Guedj M, MacGrogan G, de Mascarel I, Velasco V, Schiappa R, Bonadona V, David A, Dugast C, Gilbert-Dussardier B, Ingster O, Vabres P, Caux F, de Reynies A, Iggo R, Sevenet N, Bonnet F, Longy M.

Breast Cancer Res. 2010;12(4):R63. doi: 10.1186/bcr2626. Epub 2010 Aug 16.


Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer.

Shiovitz S, Everett J, Huang SC, Orloff MS, Eng C, Gruber SB.

Breast Cancer Res Treat. 2010 Nov;124(2):459-65. doi: 10.1007/s10549-010-0839-6. Epub 2010 Mar 27.


Mutation of genes of the PI3K/AKT pathway in breast cancer supports their potential importance as biomarker for breast cancer aggressiveness.

Tserga A, Chatziandreou I, Michalopoulos NV, Patsouris E, Saetta AA.

Virchows Arch. 2016 Jul;469(1):35-43. doi: 10.1007/s00428-016-1938-5. Epub 2016 Apr 8.


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