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Role of Genetic Polymorphisms in Ovarian Cancer Susceptibility: Development of an International Ovarian Cancer Association Consortium

  • Andrew Berchuck
  • Joellen M. Schildkraut
  • C. Leigh Pearce
  • Georgia Chenevix-Trench
  • Paul D. Pharoah
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 622)

The value of identifying women with an inherited predisposition to ovarian cancer has become readily apparent with the identification of the BRCA1 and BRCA2 genes. Women who inherit a deleterious mutation in one of these genes have a very high life-time risk of ovarian cancer (10–60%) and lesser risks of fallopian tube and peritoneal cancer. These highly lethal cancers are almost completely prevented by prophylactic salpingoophorectomy. BRCA1/BRCA2 mutation testing has become the accepted standard of care in families with a strong history of breast and/or ovarian cancer. This approach has the potential to reduce ovarian cancer mortality by about 10%.

Although the ability to perform genetic testing for BRCA1 and BRCA2 represents a significant clinical advance, the frequency of mutations in these high penetrance ovarian cancer susceptibility genes in the general population is low (about 1 in 500 individuals). There is evidence to suggest that ovarian cancer susceptibility is affected by low penetrance genetic polymorphisms that are much more common. Although such polymorphisms would increase risk to a lesser degree, they could contribute to the development of many ovarian cancers by virtue of their high frequency in the population. It has been shown that the most powerful approach to studying low penetrance genes is an association study rather than a linkage study (1). Several groups have obtained funding to initiate such studies and these generally have focused on polymorphisms in candidate genes purportedly involved in ovarian biology or carcinogenesis.

Keywords

Ovarian Cancer Progesterone Receptor Epithelial Ovarian Cancer Ovarian Cancer Risk Ovarian Cancer Case 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer 2008

Authors and Affiliations

  • Andrew Berchuck
    • 1
  • Joellen M. Schildkraut
    • 2
  • C. Leigh Pearce
    • 3
  • Georgia Chenevix-Trench
    • 4
  • Paul D. Pharoah
    • 5
  1. 1.Duke University Medical CenterDurham
  2. 2.Division of Prevention Research, Department of Community and Family Medicine, and The Duke Comprehensive Cancer CenterDuke University Medical CenterDurham
  3. 3.Department of Preventive MedicineUniversity of Southern CaliforniaLos Angeles
  4. 4.The Queensland Institute of Medical ResearchHerstonAustralia
  5. 5.Dept of OncologyUniversity of CambridgeCambridgeUK

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