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Charity calls for routine BRCA testing of ovarian cancer patients

BMJ 2013; 347 doi: https://doi.org/10.1136/bmj.f5664 (Published 17 September 2013) Cite this as: BMJ 2013;347:f5664
  1. Jacqui Wise
  1. 1London

All women in England with ovarian cancer should be tested for the BRCA1 and BRCA2 mutations at the time of diagnosis, as currently happens in Scotland, a charity has demanded.

The call by Ovarian Cancer Action was backed by an expert panel of geneticists, genetic counsellors, and medical oncologists at a panel discussion held last week at the Royal Society in London.

The charity’s policy paper calls for all women with invasive non-mucinous epithelial ovarian cancer, around 70% of women with ovarian cancer, to be tested for BRCA1 and BRCA2 mutations.1 This could affect the course of treatment, as carriers of these mutations respond best to platinum chemotherapy. This group of women could also be suitable for trials of poly-(ADP ribose) polymerase (PARP) inhibitors, which are showing positive results in patients who test BRCA1/2 positive.

Identifying women who are BRCA1/2 carriers would also enable family members who may be at risk to be identified and given advice as soon as possible. The policy paper also calls for clearer treatment pathways and more information from GPs and clinicians about the implications of BRCA1/2 mutations for family members.

In Canada and Australia women with non-mucinous epithelial ovarian cancer are routinely tested for the BRCA1/2 mutations. And in Scotland testing has recently been extended to all women with high grade serious ovarian cancer.

In England testing is offered only to women with a strong family history of breast or ovarian cancer and women in whom the cancer develops at an unusually young age. Studies have shown that around 20% of women with ovarian cancer have a BRCA1/2 mutation. More than half of the women in this group have no family history of cancer.

The charity estimates that between 3000 and 5000 women with a new diagnosis of ovarian cancer would need to be tested for BRCA1/2 each year and that this would identify up to 1500 BRCA1/2 mutations.

Gilda Witte, chief executive of Ovarian Cancer Action, said, “Taking a genetic test to reveal the statistical chances of getting a disease is a frightening dilemma, but 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.”

Notes

Cite this as: BMJ 2013;347:f5664

References

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