The MDM2 SNP309 G allele is not preferentially amplified in bone and soft tissue tumors.

[well-differentiated liposarcoma]

The transcriptional enhancer region in intron 1 of the proto-oncogene MDM 2 contains a polymorphic site (SNP 309 ) that may harbor a G or a T nucleotide . Previous studies have shown that the G allele confers a higher affinity for the Sp 1 transcription factor , resulting in an increased transcriptional activity of MDM 2 . A constitutional G allele has also been associated with earlier onset of various cancer types , and studies of sarcomas have shown an enrichment of the G allele in tumors with MDM 2 amplification , notably atypical lipomatous tumor (also known as well-differentiated liposarcoma ). In the present study , we analyzed the SNP 309 genotype in blood samples and tumor tissue from 57 patients with bone or soft tissue tumors showing amplification of MDM 2 . We did not observe any constitutional enrichment of the G allele . More importantly , there was no preferential amplification of the G allele in tumor tissue from TG heterozygotes . The expression levels of MDM 2 messenger RNA were not higher in tumors with amplification of the G allele than in tumors with amplification of the T allele . Thus , we could not find any evidence for a selective advantage of the SNP 309 G allele in bone and soft tissue tumors with MDM 2 amplification .

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