Description
About this test
Mutations in BRCA1 & BRCA2 confer an increased risk of breast and ovarian cancers: about 3% of breast cancers and 10% of ovarian cancers result from inherited mutations in these genes. This test detects the most common BRCA1 & BRCA2 mutations, which together account for more than 33% of the generally observed mutations in BRCA1, and 5% of mutations in BRCA2, in Caucasians (1).*
You will need to send the sample back at your own expense to our diagnostic laboratory, on this address:
The BioArte Ltd.
Malta Life Science Park (LS2.1.12 – LS2.1.15), San Gwann, SGN 300, Malta.
Reference: (1) Rebbeck TR, et al. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12. PMID: 29446198; PMCID: PMC5903938.
The BRCA1/2 test will look for the following mutations commonly identified in hereditary breast/ovarian and related cancers:
| Gene | Variant |
| BRCA1 | c.68_69del p.(Glu23fs)
(185delAG) |
| c.4035del p.(Glu1346fs)
(4153delA) |
|
| c.5266dup p.(Gln1756fs)
(5382insC) |
|
| c.3700_3704del p.(Val1234fs)
(3819delGTAAA) |
|
| c.3756_3759del p.(Ser1253fs)
(3875delGTCT) |
|
| c.181T>G p.(Cys61Gly) | |
| c.1961del p.(Lys654fs)
(2080delA) |
|
| BRCA2 | c.5946del p.(Ser1982fs)
(6174delT) |
*N.B. Mutation frequencies are different across different ethnicities. Contact the lab if you are not sure whether this test is for you, and we will be happy to provide expert advice.
Frequently Asked Questions
Where can the sample be collected?
You can collect the sample in the comfort of your home.
What is the type of sample that needs to be collected for this test?
Buccal specimen, using the provided swab.
Where will my sample be sent & who will do the analysis?
You will need to send the sample back at your own expense to our diagnostic laboratory where we will be performing the analysis.
Diagnostic laboratory address:
The BioArte Ltd.
Malta Life Science Park (LS2.1.12 – LS2.1.15), San Gwann, SGN 300, Malta.
How long before I receive my results?
After your sample is received by our lab, it will be analyzed and a result will be sent to you within 1 week.
Does the result need to be evaluated?
Should you require a consultation regarding this result, you may contact your medical doctor, otherwise, we can recommend you to our consultant geneticist.
Do you ship this test worldwide?
The test is currently only available for those living in the EU.
