Journal of Oncology / 2012 / Article / Tab 1

Review Article

The Role of PTEN in Tumor Angiogenesis

Table 1

PTEN-related diseases and associated cancer susceptibility. Percentages are indicated when available.

DiseasePTEN defectClinical symptomsCancer susceptibility

Cowden’s syndrome [23, 24]Splice variantsTrichilemmonas, macrocephaly, papillomatous papulesBreast (65%), thyroid (75%), endometrium (5–10%)
Deletion: coding sequence
promoter (10%)
Nonsense mutation
Missense mutation (85%):
C124: no phosphatase activities, G129: no lipid phosphatase activity, K289: no nuclear translocation

The Bannayan-Riley-Ruvalcaba syndrome [23, 24]Deletion (11%)Macrocephaly, intestinal polyposis, developmental delay, lipomas, speckled penis in maleBreast, thyroid, endometrium, rare colorectal carcinoma
Nonsense mutation
Missense mutation (60%)

The Lhermitte-Duclos disease [25] Splice variants Ataxia, increased intracranial pressure, seizuresNot demonstrated
Nonsense mutation
Missense mutation (80%)

Proteus/Proteus-like syndrome [26]Missense mutation (20 and 50%, resp.)Epidermal nevus, disproportionate overgrowth of the skull, limbs, vertebrate, Lipomas, vascular malformationrare events: cystadenoma of the ovary, testicular tumors, central nervous system tumors, parotid monomorphic adenomas

Autism [27]Missense mutation (around 10%)Sometimes associated with macrocephalyNot demonstrated

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