PTEN gene mutation; MAC1 gene mutation

Clinical significance

• mutations of PTEN are found in a large number of cancers
• defects in PTEN are a cause of:
  • Cowden disease (Lhermitte-Duclos disease)
  • Bannayan-Zonana syndrome
  • squamous cell carcinoma of the head & neck
  • susceptibility to endometrial cancer
  • proteus syndrome
  • oligodendroglioma
  • VACTERL association with hydrocephalus
  • prostate cancer
  • macrocephaly/autism syndrome

More general terms

• gene mutation testing; gene mutation analysis

More specific terms

• PTEN (MMAC1) gene mutation in colorectal cancer

Additional terms

• MMAC1 or PTEN gene
• protein tyrosine phosphatase PTEN
• PTEN mRNA expression in tissue