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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:
a) Cowden disease (Lhermitte-Duclos disease)
b) Bannayan-Zonana syndrome
c) squamous cell carcinoma of the head & neck
d) susceptibility to endometrial cancer
e) proteus syndrome
f) oligodendroglioma
g) VACTERL association with hydrocephalus
h) prostate cancer
i) macrocephaly/autism syndrome
Related
MMAC1 or PTEN gene
mutated in multiple advanced cancers 1; protein tyrosine phosphatase PTEN; phosphatase & tensin homolog deleted on chromosome ten; phosphatase & tensin homolog; phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase & dual-specificity protein phosphatase PTEN (PTEN, MMAC1, TEP1)
PTEN mRNA expression in tissue
Specific
PTEN (MMAC1) gene mutation in colorectal cancer
General
gene mutation testing; gene mutation analysis
References
Loinc