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SALSA MLPA Probemix P260 PALB2-RAD50-RAD51C-RAD51D

SALSA® MLPA® Probemix P260 PALB2-RAD50-RAD51C-RAD51D detects copy number variations in the PALB2, RAD51C, RAD51D and RAD50 genes.

Specifications

Contents: 50 MLPA probes, including 13 probes for PALB2 covering all 13 exons, 9 probes for RAD51C covering all 9 exons, 10 probes for RAD51D covering all 10 exons and 8 probes for RAD50.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: breast, ovarian and other cancer types or autosomal recessive Fanconi anemia (FA) type N.

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, involved in breast and ovarian cancer.

SALSA MLPA Probemix P045 BRCA2/CHEK2

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

SALSA MLPA Probemix P057 FANCD2-PALB2

Contains probes for the FANCD2 and PALB2 genes, involved in Fanconi Anemia.

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Intended purpose

The SALSA MLPA Probemix P260 PALB2-RAD50-RAD51C-RAD51D is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplication in the human PALB2, RAD51C, RAD51D and RAD50 genes in genomic DNA isolated from human peripheral whole blood specimens. P260 PALB2-RAD50-RAD51C-RAD51D is intended to confirm a potential cause for breast, ovarian and other cancer types in patients who are negative for BRCA1 and BRCA2 mutations. This product can also be used to determine increased cancer susceptibility in at-risk family members. Moreover, copy number variations in PALB2 can also confirm a potential cause for and clinical diagnosis of autosomal recessive Fanconi Anemia type N.

For the full intended purpose, see the product description.

Clinical background

PALB2, RAD50, RAD51C and RAD51D all play a role in DNA damage repair and a defect in one of these genes can lead to increased risk of tumour formation. For breast cancer, autosomal dominant mutations in the genes BRCA1 and BRCA2 are the most frequent cause, followed by mutations in PALB2, CHEK2 and ATM, though with a much lower frequency (Buys et al. 2017). Mutations in PALB2 may also increase the risk of developing pancreatic cancer, although the evidence is limited (see Table 1). Defects in both PALB2 copies can result in Fanconi Anemia (FA) type N. 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 N comprises less than one percent of the cases. FA type N is associated with an unusually severe predisposition to paediatric malignancies (https://www.ncbi.nlm.nih.gov/books/NBK1401/).

Autosomal dominant mutations in RAD51C or RAD51D result in increased risk for cancer, in particular ovarian cancer, while evidence of an association between RAD50 mutations and cancer risk is currently limited (see Table 1).

Table 1. Cancer risk associated with mutations in PALB2, RAD51C, RAD51D and RAD50.

(Adapted from the National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, version 1.2022)

Gene Cancer Absolute risk Strength of evidence
PALB2 Breast 41-60% Strong (with overrepresentation of triple-negative disease)
Epithelial Ovarian 3-5% Strong
Pancreatic 5-10% Limited
RAD51C Breast 15-40% Strong for ER/PR-negative breast cancer
Epithelial Ovarian >10% Strong
RAD51D Breast 15-40% Strong for ER/PR-negative breast cancer
Epithelial Ovarian >10% Strong
RAD50 Breast and Epithelial Ovarian Currently insufficient evidence of an association Insufficient

Regulatory status

SALSA MLPA Probemix P260 PALB2-RAD50-RAD51C-RAD51D is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Israel.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version C1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P260-025R
SALSA MLPA Probemix P260 PALB2-RAD50-RAD51C-RAD51D – 25 rxn
MLPA
€ 281.00
P260-050R
SALSA MLPA Probemix P260 PALB2-RAD50-RAD51C-RAD51D – 50 rxn
MLPA
€ 550.00
P260-100R
SALSA MLPA Probemix P260 PALB2-RAD50-RAD51C-RAD51D – 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
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

Learning

Publications

Selected publications using SALSA MLPA Probemix P260 PALB2-RAD50-RAD51C-RAD51D

  • Borecka M et al. (2016). Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic. Cancer Genet. 209:199-204.
  • Janatova M et al. (2013). The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer. Cancer Epidemiol Biomarkers Prev. 22:2323-32.
  • Janatova M et al. (2015). Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic. PLoS One. 10:e0127711.
  • Kraus C et al. (2017). Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. Int J Cancer. 140:95-102.
  • Poumpouridou N et al. (2016). Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer. Fam Cancer. 15:183-91.
  • Sato K et al. (2017). Mutation status of RAD51C, PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations. Cancer Sci. 108:2287-94.
  • Schnurbein G et al. (2013). RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families. Breast Cancer Res. 15:R120.
  • Schubert S et al. (2019). The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants. Int J Cancer. 144:2683-94.
  • Yang C et al. (2016). Characterization of a novel germline PALB2 duplication in a hereditary breast and ovarian cancer family. Breast Cancer Res Treat. 160:447-56.

References

  • Buys SS et al. (2017). A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. Cancer. 123:1721-30.
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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.

IL

IVD-registered in Israel.