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.
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BRCA1/2 test
€120.00