The tumor suppressor PTEN interacts with p53 in hereditary cancer (Review).

[cowden syndrome]

Numerous hereditary syndromes caused by mutations in multiple tumor suppressor genes can cause cancers . Germline mutations in PTEN and p 53 tumor suppressor cause Cowden syndrome and Li-Fraumeni syndrome , respectively . There exists some phenotypic overlap in these syndromes , and they are associated with high risks of breast cancer . The tumor suppressor protein PTEN is a dual-specificity phosphatase which has protein phosphatase activity and lipid phosphatase activity that antagonizes PI 3 K activity . Cells that lack PTEN have constitutively higher levels of PIP 3 and activated downstream targets . PTEN gene is recognized as one of the most frequently mutated or mutated in many human cancers . Li-Fraumeni syndrome results from germline mutations of the tumor suppressor p 53 gene encoding a transcriptional factor able to regulate cell cycle and apoptosis when DNA damage occurs . The p 53 protein cooperates with PTEN and might be an essential blockage in development of mammary tumors . Many findings have demonstrated that PTEN as well as p 53 plays a critical role in DNA damage response . This review summarizes the function of PTEN and p 53 in carcinogenic cell signaling . In addition , we will discuss the role of PTEN signaling through its interaction with p 53 and MDM 2 pathways for the potential implications in hereditary cancer prevention and therapeutic intervention .

Diseases
Validation

Diseases presenting "cancer" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cowden syndrome

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated