Revealing new mechanisms of ovarian cancer risk and drug resistance!

• Understanding the relationship between the molecular characteristics and clinical manifestations of ovarian cancer can help guide the development of personalized treatments, while helping us identify women at highest risk so we can intervene
  before cancer even develops.
  

• Prevention is how we can really influence ovarian cancer mortality, and this study helps us accurately identify women who carry cancer-causing mutations, which can help doctors develop prevention strategies
  for these women.
  "

conclusion

• Significant deletions and duplications were found in the BRCA1 gene, BRCA2 gene, and RAD51C gene in women with ovarian cancer, all of which are known to hide changes in the patient's DNA sequence and increase the risk of ovarian cancer;

  
  

• At the same time, 4 new CNVs that had not been previously reported were found to be associated with an increased risk of ovarian cancer, and these CNVs are potentially pathogenic and likely to occur in a wider range of susceptible areas, with potential implications for clinical genetic testing and disease prevention;

  
  

• However, gene expression is unlikely to drive chemotherapy resistance in ovarian cancer, and the second study performed whole genome sequencing of 62 primary and recurrent tumors from 28 patients with stage III/IV HGSOC, giving researchers a deeper understanding of how ovarian tumors develop resistance to chemotherapy.
  

  
  

• Established methylation groups and gene expression procedures in primary tumors are conserved throughout disease progression, even after extensive chemotherapy treatment, and changes in methylation and gene expression are unlikely to act as drivers of chemotherapy resistance;

  
  

• Previously, researchers thought that ovarian tumors evolved after exposure to chemotherapy, altering their gene expression to adapt and survive treatment, however the findings suggest that this is not the case, and most HGSOCs have the ability to survive chemotherapy from a very early stage
  .
  

prospect

• The first study, the largest to date to assess the contribution of CNVs to ovarian cancer risk, will potentially lead to more accurate genetic testing for women;
  
• The second study changed the perception
  of drug resistance in primary tumors.
  

• We have the technology to find gene deletions and duplications that increase the risk of ovarian cancer, but this is not fully possible
  in clinical genetic testing.
  We hope that the findings of the first study will draw attention to the value of looking at CNVs in clinical genetic testing;
  
• The second study has changed our understanding of how tumors respond to chemotherapy: it was previously thought that we would likely find another way to treat drug-resistant tumors after being treated with standard therapies, but this study suggests that this may not be the best approach
  .
  

Gayther added:

• With a deeper understanding of cancer chemotherapy resistance, we can design better drugs to save the lives
  of women with ovarian cancer in the future.
  

Commentary first published: Medical press

By edars-Sinai Medical Center