BREAST CANCER TEST
Why get tested?
Among the breast cancer tests offered, the Extended Breast Cancer test is the most complete one, it includes the analysis done in the first (BRCA1 and BRCA2 genes) and second level.
What the test detects
The test aims to search for pathogenic variants genes ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, PTEN, STK11, TP53.
What variants cause
Variats in these genes are correlated to a higher risk of developing a breast cancer or ovarian/falloppian tube cancer. Breast cancer is the most common cancer in women, with an incidence of 1 in 8 women (12%) of which, 5-10% shows a hereditary predisposition. In 30-50% of these cases, the cause is an alteration to the two main genes: BRCA1 and BRCA2 genes.
How testing works
The test consists in a blood test, in the extraction of genomic DNA and in the analysis of the full coding sequence and related exon/intron junctions of the genes ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, PTEN, STK11, TP53 using NGS technology. The test also allows for the analysis of the number of copies by quantitative dosage of genomic DNA through the use of molecular probes.
Results in 30 working days.
Sensitivity and specificity
Sensitivity, specificity analytical accuracy > 99%.