What is Bannayan Riley Ruvalcaba syndrome?
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder that is present at birth and is characterized by a large head size (macrocephaly), pigmented spots (maculae) on the penis and benign tumors and tumor-like growths in the intestine called hamartomas.
Is PTEN an oncogene?
PTEN acts as a tumor suppressor gene through the action of its phosphatase protein product. This phosphatase is involved in the regulation of the cell cycle, preventing cells from growing and dividing too rapidly. It is a target of many anticancer drugs….PTEN (gene)
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Is Ras a tumor suppressor?
The ras oncogene and the p53 tumor-suppressor gene will be used as examples of molecular targets of chemical carcinogens. Activated ras genes predominate as the family of oncogenes to be isolated from solid tumors that are induced by chemicals in laboratory animals.
What does Bannayan Riley Ruvalcaba syndrome look like?
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder that is present at birth and is characterized by a large head size (macrocephaly), pigmented spots (maculae) on the penis and benign tumors and tumor-like growths in the intestine called hamartomas.
Who is affected by PTEN-Riley-Ruvalcaba syndrome?
Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome.
What are the side effects of Ruvalcaba syndrome?
Craniofacial abnormalities associated with Ruvalcaba syndrome include an abnormally small head (microcephaly); an oval face; downslanting eyelid folds (palpebral fissures); a small mouth (microstomia); a narrow, small nose, which, in some cases, may appear “beaked”; a narrow upper jaw bone (maxilla), and/or crowded teeth.