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SALSA® MLPA® Probemix P090 BRCA2 detects copy number variations in the BRCA2 gene. Copy number variations of BRCA2 can be confirmed with SALSA® MLPA® Probemix P077 BRCA2 Confirmation.
Contents: 50 MLPA probes, including 40 probes for BRCA2 region (covering all 27 exons and the c.156_157insAlu mutation).
Tissue: genomic DNA isolated from human peripheral whole blood.
Application: hereditary breast and ovarian cancer syndrome (HBOC syndrome) and Fanconi anemia (FA) type D1.
CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.
The SALSA MLPA Probemix P090 BRCA2 is an in vitro diagnostic (IVD) or a research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the BRCA2 gene and the presence of the wildtype sequence of the BRCA2 c.156_157insAlu mutation in genomic DNA isolated from human peripheral whole blood specimens. P090 BRCA2 is intended to confirm a potential cause for and clinical diagnosis of hereditary breast and ovarian cancer (HBOC) syndrome, and, in rare cases, Fanconi Anemia type D1. This product can also be used for molecular genetic testing of at-risk family members.
For the full intended purpose, see the product description.
Breast and ovarian carcinomas are among the most common malignancies in developed countries. The majority of cases are considered sporadic, but in a substantial portion, a clear history of cases within a family is present. The BRCA1 and BRCA2 proteins are associated with the activation of double-strand break repair and homologous recombination and are important in maintaining genomic stability. Germline mutations in the BRCA1 and BRCA2 genes are linked to a high risk of young-onset hereditary breast and ovarian cancer. Features characteristic for hereditary, versus sporadic, breast cancer are: younger age at diagnosis, frequent bilateral disease and more frequent occurrence of diseases such as prostate and breast cancer among male relatives. Mutations in the BRCA1 and BRCA2 genes account for about 20-25% of hereditary breast cancers (Easton 1999) and about 5-10% of all breast cancers (Campeau et al. 2008). In addition, mutations in the BRCA1 and BRCA2 genes cause around 15% of ovarian cancers (Pal et al. 2005). Women with a germline BRCA2mutation have a 45-62% lifetime risk of developing breast cancer, while the risk of women in the general population is 12%. The lifetime risk of developing ovarian cancer in women with a germline BRCA2 mutation is 11-17%, compared to 1-2% in the general population. Deletions and duplications are more frequent for BRCA1 than for BRCA2 in most populations. CNVs in BRCA2 account for 2-3% of all pathogenic BRCA2 mutations, dependent on the population. More information is available at http://www.ncbi.nlm.nih.gov/books/NBK1247/.
Biallelic pathogenic variants of BRCA2 can result in Fanconi Anemia (FA) type D1. FA is characterized by physical abnormalities (such as short stature or abnormal skin pigmentation), bone marrow failure and increased risk for malignancies. The incidence of FA in general is 1:160,000, of which type D1 comprises around 3% of the cases. FA type D1 is associated with early-onset acute leukaemia and solid tumours. More information on FA is available at http://www.ncbi.nlm.nih.gov/books/NBK1401/.
SALSA MLPA Probemix P090 BRCA2 is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Colombia, Costa Rica and Israel.
This assay is for research use only (RUO) in all other territories.
SALSA Artificial Duplication DNA SD024 is an artificial DNA sample that will show a duplication for several probes in the P090 BRCA2 probemix. A reaction with SD024 can be used as an artificial positive control, though the use of your own positive samples or commercially available positive samples is recommended if possible.
SD024 is not supplied by default with orders of the P090 BRCA2 probemix, and must be ordered separately.
For more information, see the product description.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
A vial can be ordered separately, but is not included by default with orders of this probemix.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
See this support article for commercially available positive samples that have been tested with this product.