Calls for genetic screening of ovarian cancer patients
Sources: BMJ, Wall Street Journal
A UK charity has called for all women diagnosed with ovarian cancer in England to receive BRCA1 and BRCA2 mutation testing, as is already the practice in other countries including Canada, Australia and Scotland.
Mutations in the BRCA genes are associated with hereditary breast-ovarian cancer syndrome, which causes significantly increased lifetime risks of breast and ovarian cancer. The risk of ovarian cancer is lower than that of breast cancer, but still high at up to 40%.
Charity Ovarian Cancer Action has released a policy paper calling for genetic testing of all women diagnosed with invasive non-mucinous epithelial ovarian cancer (about 70% of all ovarian cancer patients). Identifying BRCA mutations is important because it affects which chemotherapeutic regimen is likely to be most effective, as well as informing the patient’s risk of breast cancer, and identifying family members as potentially at increased risk of breast, ovarian or prostate cancer. In all, around 20% of all ovarian cancer patients are thought to carry BRCA mutations, even though many have no significant family history of ovarian or breast cancer.
Current criteria in England mean that only very young ovarian cancer patients and those with a strong family history of the disease are offered BRCA testing, but the charity estimates that testing 3-5,000 additional women each year could result in the identification of up to 1,500 mutations.
The charity’s policy paper also calls for clearer pathways for GPs and other clinicians about the family implications of BRCA mutations and options for testing and screening to catch cancers in the early stages. Ovarian Cancer Action CEO Gilda Witte said that “in the case of women who are diagnosed with ovarian cancer we are failing to take advantage of one of the most important scientific discoveries that could help them to survive the disease”.
Comment: New cancer drugs that target to BRCA mutation-positive cancers (PARP inhibitors) are currently in development; though ineffective in general cancer patient populations, they are showing promising results against ovarian tumours in BRCA mutation carriers. This is a striking example of how stratification of patient populations based on genetic features may be very important for both for risk prediction and treatment.
.png)
No hay comentarios:
Publicar un comentario