Recent developments in ovarian cancer genetics

Curr Opin Obstet Gynecol. 2004 Feb;16(1):79-85. doi: 10.1097/00001703-200402000-00014.


Purpose of review: This review attempts to provide an update on recent research on inherited susceptibility to ovarian cancer. It covers articles mainly published in 2002 and 2003, with an emphasis on genetic counseling issues.

Recent findings: The major areas on which recent reports have focused include: (1) an expanded understanding of the BRCA1 and BRCA2 mutation spectrum and the frequencies of deleterious alleles in various ethnic groups; (2) investigations on how information is best transmitted to high-risk family members via genetic counseling; (3) an analysis of patient management changes based on genotype results; (4) social issues surrounding predictive testing for breast/ovarian cancer genes, including health insurance and discrimination concerns; and (5) an investigation into gynecologists' knowledge of ovarian cancer genetics, and their ability to provide genetic counseling for ovarian cancer to their patients. Preliminary reports from scientific meetings that have not yet been published in peer-reviewed journals are also discussed.

Summary: Recent developments in ovarian cancer genetics expand many of the areas that have been studied previously. A major focus of recent research has dealt with genetic counseling for families affected by hereditary breast and ovarian cancer.

Publication types

  • Review

MeSH terms

  • BRCA1 Protein / genetics*
  • BRCA2 Protein / genetics*
  • Female
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Mutation
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / prevention & control
  • Polymorphism, Genetic


  • BRCA1 Protein
  • BRCA2 Protein