Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium
2009

Genetic Risk Factors for Ovarian Cancer

Sample size: 5460 publication 10 minutes Evidence: moderate

Author Information

Author(s): C L Pearce, A M Near, D J Van Den Berg, S J Ramus, A Gentry-Maharaj, U Menon, S A Gayther, A R Anderson, C K Edlund, A H Wu, X Chen, J Beesley, P M Webb, S K Holt, C Chen, J A Doherty, M A Rossing, A S Whittemore, V McGuire, R A DiCioccio, M T Goodman, G Lurie, M E Carney, L R Wilkens, B R Ness, K B Moysich, R Edwards, E Jennison, S K Kjaer, E Hogdall, C K Hogdall, E L Goode, T A Sellers, R A Vierkant, J C Cunningham, J M Schildkraut, A Berchuck, P G Moorman, E S Iversen, D W Cramer, K L Terry, A F Vitonis, L Titus-Ernstoff, H Song, P D P Pharoah, A B Spurdle, H Anton-Culver, A Ziogas, W Brewster, V Galitovskiy, G Chenevix-Trench

Primary Institution: Ovarian Cancer Association Consortium

Hypothesis

Is there a genetic susceptibility to ovarian cancer?

Conclusion

The study identified a possible association between the SNP rs2740574 in the CYP3A4 gene and an increased risk of ovarian cancer.

Supporting Evidence

  • Three SNPs showed evidence of association with ovarian cancer.
  • The CYP3A4 variant rs2740574 was associated with a 2.8-fold increased risk.
  • Findings were consistent across racial/ethnic groups.
  • Additional follow-up studies are warranted.

Takeaway

Scientists looked at genes to see if they can help explain why some people get ovarian cancer. They found one gene that might be linked to a higher risk.

Methodology

The study combined data from 16 case-control studies to evaluate SNPs associated with ovarian cancer risk.

Potential Biases

Potential bias due to the rarity of the risk allele in certain populations.

Limitations

The association was only observed in homozygous carriers of the minor allele, which is rare in Whites.

Participant Demographics

Included women from various racial/ethnic backgrounds, primarily White and Black.

Statistical Information

P-Value

0.017

Confidence Interval

95% CI 1.20–6.56

Statistical Significance

p=0.017

Digital Object Identifier (DOI)

10.1038/sj.bjc.6604820

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