Breast cancer: it’s not just BRCA1 and BRCA2 mutations that need to be monitored

Should screening recommendations for breast cancer evolve? That’s what researchers suggest in a new study published in the medical journal Jamaica Oncology, on February 17, 2022. “Our results comparing several screening strategies show that monitoring by annual mammography from 30/35 in women carrying the genetic mutations ATM, CHEK2 and PALB2 would significantly reduce the mortality rate from breast cancer in the latter.”, write the researchers.

In France, the current recommendations of the HAS consider that in the absence of risk factors, screening by mammography (or breast ultrasound) can begin from the age of 50. Before this age, it is a clinical examination carried out by the doctor or the gynecologist which must be done. Screening by annual mammography before the age of 50 is only recommended if the presence of the two genes considered to be the most at risk, BRCA1 and BRCA 2, is identified.

Few studies done on other genetic mutations

However “other mutations exist, but are not among the factors to include in screening recommendations because data and studies are lacking”believe Dr. Kathryn Lowry, at the head of this new study.

His study group therefore assessed, by collecting medical data from nearly 32,000 volunteers, that women with the genetic mutations: ATM, CHEK2 and PALB2 would have an elevated risk of breast cancer of 40%.

50% less risk with a mammogram from the age of 30

Based on a risk assessment equation with the bosn results obtained by current screening programs for BRCA 1 and BRCA 2 mutations, the researchers estimate that carrying out initial surveillance by mammography from the age of 30/35, then making it annual from the age of 40, in women with one of its three mutations, could reduce their risk of mortality by 50%.