Alterations on the BRCA1 and BRCA2 genes increase the risk of women and people with gynae organs developing ovarian cancer. Currently, if you are found to have a BRCA gene alteration you will be offered preventative surgery, which removes the ovaries and Fallopian Tubes, stopping ovarian cancer from being able to develop. As the surgery causes an early menopause and infertility, it is recommended from the age of 35 (BRCA1) or 40 (BRCA2).
Many women choose not to have surgery or to wait for surgery until after having a family or reaching menopause naturally. Eve CEO, Athena Lamnisos, represented patient interests as part of the study, she says: ‘We know that finding out that you are at high risk of developing cancer is like throwing a large brick into a calm pool. You are faced with many decisions and the most significant are around life-changing surgery.’
Today’s research announcement is a pilot NHS research trial called ALDO (Avoiding Late Diagnosis of Ovarian Cancer), and it found that monitoring can be a short-term option for these women.
The ALDO trial tested the effectiveness of a specially designed algorithm called the ROCA test (Risk of Ovarian Cancer Algorithm test) to assess CA125 blood test results from the 767* women. The participants, who had an average age of 40, had a blood test every four months between October 2018 and November 2020. Depending on each ROCA test result, further tests and clinical assessments were organised as needed.
Adam Rosenthal, consultant gynaecologist at UCLH, who led the trial, said: “Whilst we continue to recommend that all BRCA alteration-carriers should undergo risk-reducing surgery when they feel able to do so, these encouraging results indicate that surveillance is a better option than waiting for symptoms to prompt diagnosis in those women who choose to defer surgery.”
Of the 767, eight had surgery for suspected cancer. Six had ovarian/fallopian tube cancer confirmed and two women had what turned out to be cysts or endometriosis. Half of the women had their cancers detected before there were visible tumours beyond the pelvis and all but one had the visible tumour completely removed at surgery.
These results reflect the success of the ROCA test in previous research trials and show that the test diagnoses ovarian cancer earlier, when they are more treatable and tumours can be removed completely through surgery (and a less extensive surgery than is needed in more advanced disease).
Caroline Presho carries the BRCA2 gene alteration and had her ovaries and breasts removed over 10 years ago to prevent ovarian cancer says: “I felt rushed into having surgery as my 40th birthday was approaching, but I didn’t really have an option because there was no other choice open to me. Being able to monitor women would really give them peace of mind. The test is also very important in terms of improving early detection of ovarian cancer, it would mean not having to go through so much gruelling treatment as ovarian cancer is only usually detected after it has spread. The test would add an extra layer of protection and is a really exciting for women with BRCA gene alterations.”
The ROCA test was modelled by the London School of Economics, which predicted that it would increase the amount of time each woman with ovarian cancer enjoyed a good quality of life by around two months, and have a treatment cost saving of around £100,000 for each woman.
Holly Norman, interim programme director at the North Central London Cancer Alliance, said: “Living with cancer or a higher risk of developing cancer can cause a great deal of anxiety to an individual and their family. Supporting research is an important strand of our work to improve early cancer diagnosis and to help people at higher risk of cancer to be informed of their options and help them make decisions that are best for them in managing this risk. The research results are significant and we hope they contribute to future NHS and National Institute of Clinical Excellence and Care (NICE) discussions about introducing monitoring for any woman with the BRCA gene alteration who choose to have it.”
*Participants in the study were recruited from across England and Wales through Genetics Centres or Familial Cancer Clinics.
You can find the paper in full on the BMJ website on this link.