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SALSA MLPA Probemix P087 BRCA1 Confirmation

SALSA® MLPA® Probemix P087 BRCA1 Confirmation detects copy number variations in the BRCA1 gene, and it is intended to confirm copy number variations obtained with SALSA® MLPA® Probemix P002 BRCA1.

Specifications

Contents: 40 MLPA probes, including 27 probes for each exon of the major BRCA1 variant 1, covering all 24 of its exons, and 1 upstream probe.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: hereditary breast and ovarian cancer syndrome (HBOC).

CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

Key related products

SALSA MLPA Probemix P002 BRCA1

Contains probes for the BRCA1 gene. It should be used for primary screening of BRCA1.

SALSA MLPA Probemix P041 ATM-1

Contains probes for the ATM gene, involved in breast cancer and Ataxia Telangiectasia.

SALSA MLPA Probemix P042 ATM-2

Contains probes for the ATM gene, involved in breast cancer and Ataxia Telangiectasia.

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Intended purpose

The SALSA MLPA Probemix P087 BRCA1 Confirmation is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the BRCA1 gene in genomic DNA isolated from human peripheral whole blood specimens. P087 BRCA1 Confirmation is intended to confirm a potential cause for and clinical diagnosis of hereditary breast and ovarian cancer (HBOC) syndrome, as initially determined using the SALSA MLPA Probemix P002 BRCA1. The P002 BRCA1 probemix should be used as a first tier probemix, as it provides a more extensive coverage of the BRCA1 gene.

For the full intended purpose, see the product description.

Clinical background

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 defects in the BRCA1 gene are the most frequent cause of a hereditary predisposition to breast cancer. Features characteristic of 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 account for around 15% of ovarian cancers (Pal et al. 2005). Women with a germline BRCA1 mutation have a 55-72% risk of developing breast cancer by age 70, while the risk of women in the general population is 12%. The lifetime risk of developing ovarian cancer in women with a germline BRCA1 mutation is 39-44%, compared to 1-2% in the general population.

The great majority of germline defects in the BRCA1 gene are point mutations that can be detected by sequence analysis. Deletions and duplications of complete exons in the BRCA1 gene are the second most common cause of defects in the BRCA1 gene. These copy number changes are usually missed by amplicon-based sequencing analysis (Sanger sequencing or Next Generation Sequencing), but can be detected by MLPA and hence MLPA complements sequence analysis of the BRCA1 gene. CNVs in BRCA1 account for 11-13% of all BRCA1 pathogenic mutations, dependent on the population. Some populations have a higher prevalence of CNVs in HBOC patients. For example in Italian HBOC families the prevalence is 23% (Montagna et al. 2003), in the Netherlands 27-36% (Hogervorst et al. 2003; Petrij-Bosch et al. 1997), while in a Danish cohort of HBOC patients the prevalence was 3.8% (Thomassen et al. 2006).

More information is available at http://www.ncbi.nlm.nih.gov/books/NBK1247/.

Regulatory status

SALSA MLPA Probemix P087 BRCA1 Confirmation 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 Sample DNA for this product

SALSA Artificial Duplication DNA SD024 is an artificial DNA sample that will show a duplication for several probes in the P087 BRCA1 Confirmation 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 P087 BRCA1 Confirmation probemix, and must be ordered separately.

For more information, see the product description.

Product documentation

Version D1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P087-025R
SALSA MLPA Probemix P087 BRCA1 Confirmation – 25 rxn
MLPA
€ 281.00
P087-050R
SALSA MLPA Probemix P087 BRCA1 Confirmation – 50 rxn
MLPA
€ 550.00
P087-100R
SALSA MLPA Probemix P087 BRCA1 Confirmation – 100 rxn
MLPA
€ 1075.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00

Sample DNAs (available separately)

A vial can be ordered separately, but is not included by default with orders of this probemix.

Item no.
Description
Technology
Price
SD024
SALSA Artificial Duplication DNA SD024 – 20 rxn
MLPA
€ 59.00
How to Order

Positive samples

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.

Resources

General resources

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Select Your Country

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CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.

CO

IVD-registered in Colombia.

CR

IVD-registered in Costa Rica.

IL

IVD-registered in Israel.