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The single nucleotide polymorphism IVS1+309 in mouse double minute 2 does not affect risk of familial breast cancer

Stefan Wilkening1, Justo Lorenzo Bermejo, Barbara Burwinkel

  • 1Department of Molecular Genetic Epidemiology, German Cancer Research Center (Deutsches Krebsforschungszentrum), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany. s.wilkening@dkfz.de

Cancer Research
|January 21, 2006
PubMed

Insights

This study found that a specific genetic variation in the mouse double minute 2 (MDM2) gene promoter, known as IVS1+309, does not increase the risk or alter the age of onset for familial breast cancer in women without BRCA1/2 mutations.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • The mouse double minute 2 (MDM2) oncoprotein is crucial for cell survival and progression by inhibiting the p53 tumor suppressor.
  • MDM2 overexpression can impair DNA double-strand break repair independently of p53.
  • A prior study linked an MDM2 promoter single nucleotide polymorphism (SNP) to faster tumor development in individuals with p53 mutations.

Purpose of the Study:

  • To investigate the association between the MDM2 IVS1+309 SNP and the risk of familial breast cancer.
  • To examine if this SNP influences the age of onset in familial breast cancer patients.
  • To analyze the SNP's role in hereditary breast cancer, excluding BRCA1/2 mutations and considering p53 mutation status as unknown.

Main Methods:

  • A case-control study design was employed.
  • Data from 549 women with familial breast cancer (negative for BRCA1/2 mutations) and 1,065 healthy controls were analyzed.
  • Genotype distribution of the IVS1+309 SNP was compared between cases and controls.

Main Results:

  • No significant difference in genotype distribution was observed between familial breast cancer cases and controls.
  • The IVS1+309 SNP did not demonstrate a modifying effect on the age of onset for familial breast cancer.
  • Further analysis considering additional cancers or family history did not reveal any association with the SNP.

Conclusions:

  • The MDM2 IVS1+309 SNP, in isolation, does not appear to influence the risk or age of onset of heritable breast cancer in the absence of BRCA1/2 mutations.
  • These findings suggest that this specific genetic variation may not be a significant risk factor for this subset of familial breast cancer.
  • Further research might be needed to explore potential interactions with other genetic or environmental factors.

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