PTEN Loss of Function in Cancer

Stable Identifier
Homo sapiens
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Loss-of-function mutations affecting the phosphatase domain of PTEN are frequently found in sporadic cancers (Kong et al. 1997, Lee et al. 1999, Han et al. 2000), as well as in PTEN hamartoma tumor syndromes (PHTS) (Marsh et al. 1998). PTEN can also be inactivated by gene deletion or epigenetic silencing, or indirectly by overexpression of microRNAs that target PTEN mRNA (Huse et al. 2009). Cells with deficient PTEN function have increased levels of PIP3, and therefore increased AKT activity. For a recent review, please refer to Hollander et al. 2011.
Literature References
PubMed ID Title Journal Year
19487573 The PTEN-regulating microRNA miR-26a is amplified in high-grade glioma and facilitates gliomagenesis in vivo

Rouhanifard, SH, le Sage, C, Hambardzumyan, D, Brennan, C, Holland, EC, Sohn-Lee, C, Pena, J, Agami, R, Huse, JT, Tuschl, T, Wee, B

Genes Dev. 2009
21430697 PTEN loss in the continuum of common cancers, rare syndromes and mouse models

Blumenthal, GM, Dennis, PA, Hollander, MC

Nat. Rev. Cancer 2011
9467011 Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

Lunetta, KL, Marsh, DJ, Richardson, AL, Coulon, V, Chompret, A, Eeles, RA, Bressieux, JM, Fearon, ER, Dahia, PL, Lin, AY, Demange, L, Liaw, D, Cabarrot-Moreau, A, Huson, S, Hodgson, SV, Yahanda, AM, Lacombe, D, Gorlin, RJ, Rocca-Serra, P, Zheng, Z, Duboué, B, Bonnetblanc, JM, Caron, S, Fricker, JP, Eng, C

Hum. Mol. Genet. 1998
10866302 Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay

Kato, H, Shibata, H, Matsuno, S, Shiiba, K, Han, SY, Kato, S, Ishioka, C, Ishii, S, Kanamaru, R, Suzuki, T

Cancer Res 2000
10555148 Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association

Georgescu, MM, Pavletich, NP, Shi, Y, Maehama, T, Pandolfi, P, Yang, H, Lee, JO, Dixon, JE, Di Cristofano, A

Cell 1999
9326929 PTEN1 is frequently mutated in primary endometrial carcinomas

Zou, TT, Abraham, JM, Kong, D, Horii, A, Yamakawa, H, Suzuki, A, Yokoyama, T, Sato, M, Sakurada, A, Furukawa, T, Wang, S, Souza, RF, Sato, S, Smolinski, KN, Ohuchi, N, Yin, J, Meltzer, SJ, Kemp, LW, Wakatsuki, S

Nat. Genet. 1997
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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