Why choose the 12 Gene Breast Cancer Panel?
- Helps to make vital and informed decisions about the most effective treatment and/or surgery to eradicate or slow down cancer growth, while minimising any damage to healthy tissue.
- Identifies pathogenic or likely pathogenic mutations to prevent progression or recurrence.
- Identifies inherited mutations to ensure that immediate family members are screened from an early age.
All testing is processed at our UK-based laboratory, giving your patients a speedy and cost-effective option to make surgical and management decisions as promptly as possible.
A woman born after 1960 and living in the UK has an estimated 1 in 7 lifetime risk of developing breast cancer. Approx. 15-20% of women with breast cancer will have a family history of the disease.[1]
Inherited mutations in BRCA1 and BRCA2 genes account for about 4-6% of all breast cancer cases in women. 5–10% of breast cancers are thought to be hereditary caused by abnormal genes passed from parent to child. BRCA1 and BRCA2 are the most common.
The other genes on this panel are also associated with a significant risk of breast cancer, and their inclusion is expected to increase the clinical sensitivity of this test. Individuals with a pathogenic variant in one of these genes have a significantly increased risk of developing breast cancer.
Identifying these patients enables implementation of surgical and/or treatment decisions at the time of diagnosis.
These efforts may also result in risk-reduction and early diagnosis of other cancers, increasing the chances of successful treatment and survival.
Limitations
This test has been demonstrated to achieve 100% analytical sensitivity for all single nucleotide variants, insertions and deletions <50 bp within the exonic regions of the target genes tested.
Large structural variants such as inversions, large deletions, stretches of inserted repeat elements or translocations are not detectable with this assay. Changes in promotor, non-coding exons and non-coding regions are not assessed. This assay cannot establish the presence of mosaicism or be used to determine phasing. In some cases, there may be isolated regions associated with individual amplicons that may not be assessable due to a drop in sequence coverage/quality caused by the underlying sequence of the sample. Exon copy number variation analysis has not been fully validated for this assay.
CNV analysis will be run for each sample using the Everything Genetic pipeline in addition to the QCII pipeline. Any sample where a putative CNV is detected, will be referred for further testing as per the gold standard in the industry. This further analysis will be used to confirm the presence or absence of CNVs.
This test is not suitable for the detection of somatic mutations.
