Thousands of breast cancer cases could be prevented by 'risk-reducing' surgery, study suggests

Risk-reducing mastectomies (RRM) are currently only offered to women with the BRCA1, BRCA2, PALB2 genes, experts said.

But new analysis indicates that women with other genetic variants linked to increased breast cancer risk - including ATM, CHEK2, RAD51C, and RAD51D - may also benefit from RMM their overall risk is assessed as sufficiently high.

Contributing factors include family history, reproductive history, breastfeeding, and mammogram density.

Researchers from Queen Mary University of London and the London School of Hygiene and Tropical Medicine (LSHTM) estimate that if all UK women aged 30 to 55 with a calculated breast cancer risk of 35% or greater underwent RRM, approximately 6,538 cases of breast cancer could be prevented annually.

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This figure represents roughly 11% of the 59,000 breast cancer diagnoses made in the UK each year.

The academics point out that women who have one of the other genes linked to breastcancer, who may be at high risk of disease, could potentially be found by a mechanism called “cascade testing” – where genetic tests are offered to family members of women who have been found to have these different genes linked to breast cancer.

The economic evaluation study, published in the journal JAMA Oncology, concludes: “Undergoing RRM appears cost-effective for women at 30-55 years with a lifetime BC-risk 35% (or more).

"The results could have significant clinical implications to expand access to RRM beyond BRCA1/BRCA2/PALB2 pathogenic variant carriers.”

Corresponding author on the paper, Professor Ranjit Manchanda, professor of gynaecological oncology at Queen Mary and consultant gynaecological oncologist, said: “We for the first time define the risk at which we should offer RRM.

“Our results could have significant clinical implications to expand access to mastectomy beyond those patients with known genetic susceptibility in high penetrance genes- BRCA1/ BRCA2/ PALB2 – who are traditionally offered this.

“This could potentially prevent can potentially prevent (around) 6500 breast cancer cases annually in UK women.

“We recommend that more research is carried out to evaluate the acceptability, uptake, and long-term outcomes of RRM among this group”.

Dr Rosa Legood, associate professor in health economics at LSHTM, added: “Undergoing RRM is cost-effective for women (aged) 30 to 55-years with a lifetime breast cancer risk of 35% or more.

“These results can support additional management options for personalised breast cancerrisk prediction enabling more women at increased risk to access prevention."

Women deemed to be at high risk of breast cancer can also be offered regular screening and medication.

Louise Grimsdell, Breast Cancer Now senior clinical nurse specialist, said: “While this modelling provides valuable insights into the cost-effectiveness of risk-reducing mastectomy for women with a high risk of developing breast cancer, each individual must be offered all risk-management options that are suitable for them.

“Choosing to have risk-reducing surgery is a complex and deeply personal decision that comes with emotional and physical implications.

“So, it’s vital women can consider all their options, including screening and risk-reducing medications, and are supported by their clinician to make an informed decision that’s right for them.

“It’s also crucial that the unacceptably long waits that far too many women who chose risk-reducing surgery are facing are urgently tackled.”