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SALSA MLPA Probemix P077 BRCA2 Confirmation

SALSA® MLPA® Probemix P077 BRCA2 Confirmation detects copy number variations in the BRCA2 gene, and is intended to confirm copy number variations obtained with SALSA® MLPA® Probemix P045 BRCA2-CHEK2 or SALSA® MLPA® Probemix P090 BRCA2.

Specifications

Contents: 50 MLPA probes, including 38 probes for BRCA2 region, covering all 27 exons, introns 3, 7, 12 and 13, and upstream region.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: hereditary breast and ovarian cancer (HBOC) syndrome and, in rare cases, Fanconi anemia (FA) type D1.

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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Compare BRCA2 products from MRC Holland.

Intended purpose

The SALSA MLPA Probemix P077 BRCA2 Confirmation 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 in genomic DNA isolated from human peripheral whole blood specimens. P077 BRCA2 Confirmation is intended to confirm a potential cause for and clinical diagnosis of hereditary breast and ovarian cancer (HBOC) syndrome, or, in rare cases, Fanconi Anemia type D1, as initially determined using SALSA MLPA Probemix P045 BRCA2/CHEK2 or SALSA MLPA Probemix P090 BRCA2. As they provide a more extensive coverage of the BRCA2 gene, P045 BRCA2/CHEK2 or P090 BRCA2 should be used as a first tier probemix. This P077 BRCA2 Confirmation probemix cannot be used to verify CHEK2 mutations found with P045 BRCA2/CHEK2. However, the P190 CHEK2 probemix is available for deletion or duplication analysis of other CHEK2 exons.

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 mutations in the BRCA1 and BRCA2 genes are linked to a high risk of young-onset hereditary breast and ovarian 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 canceramong 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 BRCA2 mutation 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 https://www.ncbi.nlm.nih.gov/books/NBK1401/.

Regulatory status

SALSA MLPA Probemix P077 BRCA2 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 P077 BRCA2 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 P077 BRCA2 Confirmation probemix, and must be ordered separately.

For more information, see the product description.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P077-025R
SALSA MLPA Probemix P077 BRCA2 Confirmation – 25 rxn
MLPA
€ 281.00
P077-050R
SALSA MLPA Probemix P077 BRCA2 Confirmation – 50 rxn
MLPA
€ 550.00
P077-100R
SALSA MLPA Probemix P077 BRCA2 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

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 (B1) version of this product and have been shown to produce useful results.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P077 BRCA2 Confirmation

  • Han E et al. (2020). Detection of BRCA1/2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing. Clin Chim Acta. 505:49-54.
  • Maistro S et al. (2016). Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil. BMC Cancer. 16:934.
  • Solano AR et al. (2018). BRCA1 and BRCA2 Mutations Other Than the Founder Alleles Among Ashkenazi Jewish in the Population of Argentina. Front Oncol. 8:323.
  • Su L et al. (2018). Prevalence of BRCA1/2 large genomic rearrangements in Chinese women with sporadic triple-negative or familial breast cancer. Clin Genet. 94:165-9.
  • Tzabarestani S et al. (2017). Analysis of BRCA1/2 Mutations and Performance of Manchester Scoring System in High Risk Iranian Breast Cancer Patients: A Pilot Study. Int J Cancer Manag. 10:e60392.
  • Van der Merwe NC et al. (2020). The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer. BMC Cancer. 20:391.

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.
  • Pal T et al. (2005). BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer. 104:2807-16.
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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.