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SALSA MLPA Probemix P002 BRCA1

SALSA® MLPA® Probemix P002 BRCA1 detects copy number variations in the BRCA1 gene. Copy number variations of BRCA1 can be confirmed with SALSA® MLPA® Probemix P087 BRCA1 Confirmation.

Specifications

Contents: 48 MLPA probes, including 38 probes for the major BRCA1 gene region (covering all 24 of its exons).

Tissue: genomic DNA isolated from human peripheral whole blood.

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

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

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List Prices Documentation

Key related products

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SALSA MLPA Probemix P042 ATM-2

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

SALSA MLPA Probemix P045 BRCA2/CHEK2

Contains probes for the BRCA2 and CHEK2 genes, involved in breast and ovarian cancer.

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Intended purpose

The SALSA MLPA Probemix P002 BRCA1 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the human BRCA1 gene in genomic DNA isolated from human peripheral whole blood specimens. P002 BRCA1 is intended to confirm a potential cause for and clinical diagnosis of hereditary breast and ovarian cancer (HBOC) syndrome and for molecular genetic testing of at-risk family members.

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 P002 BRCA1 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 P002 BRCA1 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 P002 BRCA1 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
P002-025R
SALSA MLPA Probemix P002 BRCA1 – 25 rxn
MLPA
€ 281.00
P002-050R
SALSA MLPA Probemix P002 BRCA1 – 50 rxn
MLPA
€ 550.00
P002-100R
SALSA MLPA Probemix P002 BRCA1 – 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

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

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.

The commercially available positive samples below have been tested with the current (D1) version of this product and have been shown to produce useful results.

  • Coriell NA14094: Heterozygous deletion of 40 nt in BRCA1 exon 11 affecting the probe for BRCA1 exon 11 at 382 nt. This deletion cannot be detected with the P087 BRCA1 Confirmation probemix.
  • Coriell NA14626: Heterozygous duplication affecting the probes for BRCA1 exon 13.
  • Coriell NA18949: Heterozygous deletion affecting the probes for BRCA1 exon 15-16.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P002 BRCA1

  • Apostolou P et al. (2020). BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects. Int J Cancer. 147:1334-42.
  • Bozsik A et al. (2020). Complex Characterization of Germline Large Genomic Rearrangements of the BRCA1 and BRCA2 Genes in High-Risk Breast Cancer Patients-Novel Variants from a Large National Center. Int J Mol Sci. 21:4650.
  • Del Valle J et al. (2010). Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes. Breast Cancer Res Treat. 122:733-43.
  • Garcia-Casado Z et al. (2011). A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer. BMC Med Genet. 12:134.
  • James PA et al. (2015). Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features. Fam Cancer. 14:287-95.
  • Janavičius R et al. (2014). Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania. Cancer Genet. 207:195-205.
  • Maistro S et al. (2016). Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil. BMC Cancer. 16:934.
  • Rashid MU et al. (2017). Contribution of BRCA1 large genomic rearrangements to early-onset and familial breast/ovarian cancer in Pakistan. Breast Cancer Res Treat. 161:191-201.
  • Ruiz de Sabando A et al. (2019). Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain). BMC Cancer. 19:1145.
  • Tedaldi G et al. (2020). Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients. Diagnostics (Basel). 10:269.

References

  • Campeau PM et al. (2008). Hereditary breast cancer: new genetic developments, new therapeutic avenues. Hum Genet. 124:31-42.
  • Easton DF (1999). How many more breast cancer predisposition genes are there? Breast Cancer Res. 1:14-7.
  • Hogervorst FBL et al. (2003). Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res. 63:1449-53.
  • Montagna M et al. (2003). Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet. 12:1055-61.
  • Pal T et al. (2005). BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer. 104:2807-16.
  • Petrij-Bosch A et al. (1997). BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet. 17:341-5.
  • Thomassen M et al. (2006). Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark. Cancer Genet Cytogenet. 168:168-71.
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Choose your country to see the products for your location

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.