Professor Sarah Tabrizi elected to Royal Society for pioneering Huntington's research
16 May 2024
Publish date: 02 November 2022
Research published in the latest issue of the Journal of Medical Genetics concludes that regularly monitoring women who carry BRCA gene alterations does provide some benefits. It has been led by Adam Rosenthal, consultant gynaecologist at UCLH, and funded by the North Central London Cancer Alliance and research company Abcodia.
The BRCA1 and BRCA2 gene alterations greatly increase the risk of developing ovarian cancer. Preventive surgery to remove the ovaries and fallopian tubes is the only way to avoid this disease. Surgery is recommended for BRCA alteration carriers from the age of 35 (BRCA1) or 40 (BRCA2), and therefore causes infertility and early menopause. As a result, many women choose to defer the surgery. This pilot NHS research programme, known as ALDO (Avoiding Late Diagnosis of Ovarian Cancer), found that monitoring can be a short-term option for these women.
ALDO used a specially designed algorithm called the Risk of Ovarian Cancer Algorithm (ROCA) test to assess regular blood results from the 767* women who underwent surveillance. Participants, who had an average age of 40, had a ROCA blood test every four months during the study period between October 2018 and November 2020. Depending on each ROCA test result, further tests and clinical assessments were organised as needed.
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 were similar to previous research trials using the ROCA test and indicate that the test diagnoses cancers earlier, when less extensive surgery is needed to remove tumours completely.
Adam Rosenthal, consultant gynaecologist, said: “Whilst we continue to recommend that all BRCA-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.”
Economic modelling carried out by experts at the London School of Economics, included in the research paper, predicted that surveillance would increase the amount of time each woman with ovarian cancer enjoyed a good quality of life by around 2 months. There would be a treatment cost saving of around £100,000 for each woman compared with no surveillance, primarily due to a reduction in the use of expensive cancer treatment.
*Participants in the study were recruited from across England and Wales through Genetics Centres or Familial Cancer Clinics.
