The University of Manchester in the UK has unveiled a new genetic test for the accurate prediction of breast cancer risk in women who have a family history of the cancer and test negative for BRCA1/2 gene mutations.
Developed by researchers at the university in alliance with those from Manchester University NHS Foundation Trust (MFT), the test evaluates the risk based on genetic variations in the DNA of an individual.
The test is also expected to aid in refining the risk in certain instances in women with the BRCA1/2 mutations.
During the research, 18 single nucleotide polymorphisms (SNPs) were found to be indicative of breast cancer risk in those without BRCA1/2 mutations.
While the SNPs had minimal effect in isolation, they were observed to enhance or reduce the risk of the disease when combined.
The researchers carried out a case-control study in a total of 451 women, including 112 with BRCA1/2 mutations, who had a family history of breast cancer and developed the disease.
Diagnosis of invasive cancer, the genetic profile of these women, and other risk factors were used to predict an overall risk estimate.
Many of the women who were originally in the high-risk category were reclassified to a lower risk, indicating that the women with BRCA1/2 mutations who choose to have a mastectomy could decrease from 50% to 36%.
The University of Manchester Medical Genetics and Cancer Epidemiology professor Gareth Evans said: “This new test will help women at risk of familial breast cancer to make more informed decisions about their care.”
The researchers carried out a Prevent Breast Cancer’s Predicting Risk of Cancer At Screening (PROCAS) SNP study in a total of 10,000 women, of which 455 developed breast cancer.
Results from the study are reported to have confirmed the accuracy of the risk predictions.
With plans to bring the new test to clinical practice within the next six months, the researchers intend to work on new screening tests and biomarkers for other common cancers such as ovarian and prostate.
Image: New test assesses breast cancer risk based on genetic variations in an individual’s DNA. Photo: courtesy of The University of Manchester.