Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations
1999

p53 Gene Variants and Ovarian Cancer Risk

Sample size: 674 publication Evidence: moderate

Author Information

Author(s): Wang-Gohrke S, Weikel W, Risch H, Vesprini D, Abrahamson J, Lerman C, Godwin A, Moslehi R, Olipade O, Brunet J-S, Stickeler E, Kieback D G, Kreienberg R, Weber B, Narod S A, Runnebaum I B

Primary Institution: Molecular Biology Laboratory Department of Obstetrics and Gynaecology, University of Ulm

Hypothesis

Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations.

Conclusion

The study found that certain intronic polymorphisms of the p53 gene increase the risk of ovarian cancer in patients who do not carry BRCA1 or BRCA2 mutations.

Supporting Evidence

  • The study involved genotyping of 310 ovarian cancer patients and 364 healthy controls.
  • A 1.93-fold increased risk was found for patients carrying the rare allele of the MspI RFLP in intron 6.
  • The risk increased further for patients diagnosed between ages 41-60.
  • No difference in allele frequency was observed in BRCA1 or BRCA2 mutation carriers.

Takeaway

Some changes in a gene called p53 can make women more likely to get ovarian cancer, but this doesn't apply to those who already have certain gene mutations.

Methodology

The study analyzed germline DNA from ovarian cancer patients and healthy controls using PCR and high-resolution gel electrophoresis.

Participant Demographics

310 German Caucasian ovarian cancer patients and 364 healthy controls, along with 124 affected and 276 unaffected female carriers of BRCA1 or BRCA2 mutations.

Statistical Information

Confidence Interval

95% CI 1.27–2.91

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1038/sj.bjc.6690669

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