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.
Sample: Buccal specimen
Price: 120 Euros
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BRCA1/2 test
€120.00
Timing for test results: 1 Week after the sample has been delivered to our diagnostic lab.
Evaluation of results: The result will be sent to you directly. Should you require a consultation regarding this result, you may contact your medical doctor, otherwise, we can recommend you to our consultant geneticist.
