trustpilot Fantastic service
Great service with regard to both information…

02  4948  5291

Aurora magazine

Breast Cancer: identify the most common genetic variants

Breast cancer is getting easier to detect and prevent. Two BCCs (Breast Cancer Association Consortium) have discovered over 60 genetic variants that predispose to the disease.

The new variants are more widespread than the more famous ones that touch the BRCA1 and BRAC2 genes. Compared to the latter, they pose a lower risk, especially if taken individually. However, some subjects have two or more mutations combined. In this case, the chances of a tumor are high enough to justify a preventive intervention.

For the discovery, researchers have been using the DNA of over 137,000 women with breast cancer. They also analyzed the genetic heritage of 18,900 women with BRCA mutations and 119,000 healthy women.

Thanks to the study, the number of abnormalities associated with breast cancer is 167. Of these, 125 are associated with Er-negative tumors, on which hormonal therapies have no effect. All this confirms how genetic factors affect cancer predisposition. Beyond the few families with a very pronounced predisposition, there are fewer but important factors.

Along with the findings already made and current DNA testing, the study promises to facilitate early diagnosis of the tumor.