Related Experiment Videos

No association between MDM2 SNP309 promoter polymorphism and basal cell carcinoma of the skin

S Wilkening1, K Hemminki, P Rudnai

  • 1Department of Molecular Genetic Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 580, 69120 Heidelberg, Germany. stefan_wilkening@web.de

The British Journal of Dermatology
|June 8, 2007
PubMed
Abstract

Insights

The MDM2 SNP309 genetic variation does not appear to influence the risk or age of onset for basal cell carcinoma (BCC). This finding suggests MDM2 SNP309 is not a significant factor in BCC development.

Area of Science:

  • Oncology
  • Genetics
  • Dermatology

Background:

  • The MDM2 oncoprotein inhibits the p53 tumor suppressor, promoting cell survival and progression.
  • MDM2 gene overexpression can impair DNA repair independently of p53.
  • A specific MDM2 gene variant, SNP309, affects MDM2 expression and the p53 pathway, and is linked to various cancer risks.

Purpose of the Study:

  • To investigate the association between the MDM2 SNP309 and the risk of basal cell carcinoma (BCC).
  • To determine if MDM2 SNP309 influences the age at which BCC develops.

Main Methods:

  • A case-control study was conducted involving 509 BCC patients and 513 healthy controls.
  • Genotyping for MDM2 SNP309 was performed using TaqMan polymerase chain reaction.

Main Results:

  • No significant difference in genotype distribution was observed between BCC cases and controls.
  • The MDM2 SNP309 did not alter the age of onset for basal cell carcinoma.

Conclusions:

  • The MDM2 SNP309 genetic variation does not appear to be a significant risk factor for basal cell carcinoma.
  • This specific MDM2 gene polymorphism does not influence the age at which BCC develops.

Related Concept Videos

Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...