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AKT1, E17K (c.49G>A)

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Mass General Hospital Cancer Center treats patients with many cancer types. To learn more about the different cancer types that can be treated at the Cancer Center, please visit the Cancer Center website at the following page: http://www.massgeneral.org/cancer/services/
Expand Collapse AKT1  - General Description AKT1 is a gene that provides the code for making a protein that plays a pivotal role in important signaling pathways. These pathways help control how cells grow and divide (proliferate), survive, become able to perform specific tasks (differentiate), and eventually destroy themselves when they're damaged or no longer needed (apoptosis). AKT1 seems especially important for the normal development and function of the nervous system. When AKT1 is mutated, it may act as an oncogene causing normal cells to become cancerous. Mutations of the AKT1 gene sometimes are found in breast, ovarian and colorectal cancers. These mutations allow cells to grow without control, resulting in the formation of cancerous tumors. Somatic mutations in AKT are found in some cancers. Somatic mutations are those that instead of coming from a parent and being present in every cell (hereditary), somatic mutations are acquired during the course of a person's life and are found only in cells that become cancerous. Tumor mutation profiling performed clinically at the MGH Cancer Center has confirmed that AKT1 gene mutations are rare in cancer. The highest incidence of AKT1 mutations were found in a small subset of brain meningiomas (8-13%), endometrial cancer (5%), breast cancer (2%), ovarian cancer (1%) or cancers of the head and neck (1%). Source: Genetics Home ReferenceThe AKT family of serine-threonine protein kinases serve as a central signaling cascade downstream of PI3K, regulating a number of processes involved in cell proliferation, survival, metabolism and angiogenesis. The activation of AKT is normally dependent on recruitment to the plasma cell membrane by PI3K activation, where AKT is phosphorylated and activated by PDK1 and mTORC2. The three AKT isoforms AKT1, AKT2 and AKT3 are known to regulate distinct physiological functions. AKT1 induces protein synthesis pathways (e.g. mTOR) and inhibits apoptotic pathways (e.g. BAD). AKT1 E17K is the major somatic gene mutation identified in the AKT family in cancers, leading to PI3K-independent membrane recruitment and deregulation of the isoform AKT1's normal specificity. Tumor mutation profiling performed clinically at the MGH Cancer Center has confirmed that AKT1 gene mutations are rare in cancers. The highest incidence of AKT1 mutations have been found in a subset of brain meningiomas (8-13%), endometrial cancer (5%), breast cancer (2%), ovarian cancer (1%) or cancers of the head and neck (1%). Source: Genetics Home Reference
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AKT1 is a gene that provides the code for making a protein that plays a pivotal role in important signaling pathways. These pathways help control how cells grow and divide (proliferate), survive, become able to perform specific tasks (differentiate), and eventually destroy themselves when they're damaged or no longer needed (apoptosis). AKT1 seems especially important for the normal development and function of the nervous system.

When AKT1 is mutated, it may act as an oncogene causing normal cells to become cancerous. Mutations of the AKT1 gene sometimes are found in breast, ovarian and colorectal cancers. These mutations allow cells to grow without control, resulting in the formation of cancerous tumors. Somatic mutations in AKT are found in some cancers. Somatic mutations are those that instead of coming from a parent and being present in every cell (hereditary), somatic mutations are acquired during the course of a person's life and are found only in cells that become cancerous.

Tumor mutation profiling performed clinically at the MGH Cancer Center has confirmed that AKT1 gene mutations are rare in cancer. The highest incidence of AKT1 mutations were found in a small subset of brain meningiomas (8-13%), endometrial cancer (5%), breast cancer (2%), ovarian cancer (1%) or cancers of the head and neck (1%).

Source: Genetics Home Reference
The AKT family of serine-threonine protein kinases serve as a central signaling cascade downstream of PI3K, regulating a number of processes involved in cell proliferation, survival, metabolism and angiogenesis. The activation of AKT is normally dependent on recruitment to the plasma cell membrane by PI3K activation, where AKT is phosphorylated and activated by PDK1 and mTORC2. The three AKT isoforms AKT1, AKT2 and AKT3 are known to regulate distinct physiological functions. AKT1 induces protein synthesis pathways (e.g. mTOR) and inhibits apoptotic pathways (e.g. BAD). AKT1 E17K is the major somatic gene mutation identified in the AKT family in cancers, leading to PI3K-independent membrane recruitment and deregulation of the isoform AKT1's normal specificity.

Tumor mutation profiling performed clinically at the MGH Cancer Center has confirmed that AKT1 gene mutations are rare in cancers. The highest incidence of AKT1 mutations have been found in a subset of brain meningiomas (8-13%), endometrial cancer (5%), breast cancer (2%), ovarian cancer (1%) or cancers of the head and neck (1%).

Source: Genetics Home Reference
PubMed ID's
17611497, 19372382, 23334667
Expand Collapse E17K (c.49G>A)  in AKT1
The AKT1 E17K mutation arises from a single nucleotide change (c.49G>A) and results in an amino acid substitution of the glutamic acid (E) at position 17 by a lysine (K).
The AKT1 E17K mutation arises from a single nucleotide change (c.49G>A) and results in an amino acid substitution of the glutamic acid (E) at position 17 by a lysine (K).
PubMed ID's
PMID 24265351;

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Your Matched Clinical Trials

Trial Matches: (G) - Gene, (M) - Mutation
Trial Status: Showing all 2 results Per Page:
Protocol # Title Location Status Match
NCT01971515 First-in-Human Dose Escalation Trial in Subjects With Advanced Malignancies First-in-Human Dose Escalation Trial in Subjects With Advanced Malignancies MGH Open GM
NCT02523014 A Study Looking at Targeted Therapy According to Tumor Markers for People With Meningiomas A Study Looking at Targeted Therapy According to Tumor Markers for People With Meningiomas MGH Open G
MGH has many open clinical trials for other cancers not shown on the Targeted Cancer Care website. They can be found on the MassGeneral.org clinical trials search page.

Additional clinical trials may be applicable to your search criteria, but they may not be available at MGH. These clinical trials can typically be found by searching the clinicaltrials.gov website.
Trial Status: Showing all 2 results Per Page:

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