PTEN Gene: A Model for Genetic Diseases in Dermatology
PTEN gene is considered one of the most mutated tumor suppressor genes in human cancer, and it’s likely to become the first one in the near future. Since 1997, its involvement in tumor suppression has smoothly increased, up to the current importance. Germline mutations of PTEN cause the PTEN hamart...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | The Scientific World Journal |
| Online Access: | http://dx.doi.org/10.1100/2012/252457 |
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| author | Corrado Romano Carmelo Schepis |
| author_facet | Corrado Romano Carmelo Schepis |
| author_sort | Corrado Romano |
| collection | DOAJ |
| description | PTEN gene is considered one of the most mutated tumor suppressor genes in human cancer, and it’s likely to become the first one in the near future. Since 1997, its involvement in tumor suppression has smoothly increased, up to the current importance. Germline mutations of PTEN cause the PTEN hamartoma tumor syndrome (PHTS), which include the past-called Cowden, Bannayan-Riley-Ruvalcaba, Proteus, Proteus-like, and Lhermitte-Duclos syndromes. Somatic mutations of PTEN have been observed in glioblastoma, prostate cancer, and brest cancer cell lines, quoting only the first tissues where the involvement has been proven. The negative regulation of cell interactions with the extracellular matrix could be the way PTEN phosphatase acts as a tumor suppressor. PTEN gene plays an essential role in human development. A recent model sees PTEN function as a stepwise gradation, which can be impaired not only by heterozygous mutations and homozygous losses, but also by other molecular mechanisms, such as transcriptional regression, epigenetic silencing, regulation by microRNAs, posttranslational modification, and aberrant localization. The involvement of PTEN function in melanoma and multistage skin carcinogenesis, with its implication in cancer treatment, and the role of front office in diagnosing PHTS are the main reasons why the dermatologist should know about PTEN. |
| format | Article |
| id | doaj-art-ee1d87baf4bf4b458f9d05768ef535be |
| institution | Kabale University |
| issn | 1537-744X |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Scientific World Journal |
| spelling | doaj-art-ee1d87baf4bf4b458f9d05768ef535be2025-02-03T01:26:27ZengWileyThe Scientific World Journal1537-744X2012-01-01201210.1100/2012/252457252457PTEN Gene: A Model for Genetic Diseases in DermatologyCorrado Romano0Carmelo Schepis1Unit of Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, 94018 Troina, ItalyUnit of Dermatology, I.R.C.C.S. Associazione Oasi Maria Santissima, 94018 Troina, ItalyPTEN gene is considered one of the most mutated tumor suppressor genes in human cancer, and it’s likely to become the first one in the near future. Since 1997, its involvement in tumor suppression has smoothly increased, up to the current importance. Germline mutations of PTEN cause the PTEN hamartoma tumor syndrome (PHTS), which include the past-called Cowden, Bannayan-Riley-Ruvalcaba, Proteus, Proteus-like, and Lhermitte-Duclos syndromes. Somatic mutations of PTEN have been observed in glioblastoma, prostate cancer, and brest cancer cell lines, quoting only the first tissues where the involvement has been proven. The negative regulation of cell interactions with the extracellular matrix could be the way PTEN phosphatase acts as a tumor suppressor. PTEN gene plays an essential role in human development. A recent model sees PTEN function as a stepwise gradation, which can be impaired not only by heterozygous mutations and homozygous losses, but also by other molecular mechanisms, such as transcriptional regression, epigenetic silencing, regulation by microRNAs, posttranslational modification, and aberrant localization. The involvement of PTEN function in melanoma and multistage skin carcinogenesis, with its implication in cancer treatment, and the role of front office in diagnosing PHTS are the main reasons why the dermatologist should know about PTEN.http://dx.doi.org/10.1100/2012/252457 |
| spellingShingle | Corrado Romano Carmelo Schepis PTEN Gene: A Model for Genetic Diseases in Dermatology The Scientific World Journal |
| title | PTEN Gene: A Model for Genetic Diseases in Dermatology |
| title_full | PTEN Gene: A Model for Genetic Diseases in Dermatology |
| title_fullStr | PTEN Gene: A Model for Genetic Diseases in Dermatology |
| title_full_unstemmed | PTEN Gene: A Model for Genetic Diseases in Dermatology |
| title_short | PTEN Gene: A Model for Genetic Diseases in Dermatology |
| title_sort | pten gene a model for genetic diseases in dermatology |
| url | http://dx.doi.org/10.1100/2012/252457 |
| work_keys_str_mv | AT corradoromano ptengeneamodelforgeneticdiseasesindermatology AT carmeloschepis ptengeneamodelforgeneticdiseasesindermatology |