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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: PALB2-related cancer predisposition syndrome, RAD51-related cancer predisposition syndrome, and Fanconi anemia (FA) type N.

IVDR certified and registered for in vitro diagnostic (IVD) use in selected territories. Not all targets are for IVD use.

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Key related products

P002 BRCA1

Contains probes for the BRCA1 gene, involved in breast and ovarian cancer.

P045 BRCA2/CHEK2

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

P057 FANCD2-PALB2

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

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This product has recently been CE-marked for in vitro diagnostic (IVD) use under the In Vitro Diagnostic Regulation (IVDR; EU 2017/746), which replaces the former CE-marking under the IVD Directive (IVDD; Directive 98/79/EC). This update was accompanied by a change in the intended purpose and a change in format of the product description. Some information can now be found in a different location (more information).

Intended purpose

The SALSA MLPA Probemix P260 PALB2-RAD50-RAD51C-RAD51D is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative manual assay for the detection of deletions or duplications in the PALB2 and RAD51C genes, and deletions in the RAD51D gene in genomic DNA isolated from human peripheral whole blood specimens. P260 PALB2-RAD50-RAD51C-RAD51D is intended to confirm a potential cause for and clinical diagnosis of PALB2-related cancer predisposition syndrome (PALB2 deletions/duplications) and RAD51-related cancer predisposition syndrome (RAD51C deletions/duplications and RAD51D deletions). In addition, P260 PALB2-RAD50-RAD51C-RAD51D is intended to establish or confirm a potential cause for and clinical diagnosis of autosomal recessive Fanconi Anemia type N (PALB2 deletions). This product can also be used for molecular genetic testing of at-risk family members.

Certain probes targeting additional genes included in P260 PALB2-RAD50-RAD51C-RAD51D may only be used in a research setting. The following table summarises which probes are for IVD, and which are exclusively restricted to RUO use.

IVD targets
RUO targets
PALB2, RAD51C and RAD51D
RAD50

For the full intended purpose, see the product description.

Clinical background

PALB2- and RAD51-related cancer predisposition syndromes: PALB2, RAD51C and RAD51D play a role in DNA damage repair, and a defect in one of these genes can lead to increased risk of tumour formation. Aberrations in PALB2, RAD51C and RAD51D are strongly associated with the development of breast and ovarian cancers, amongst other genes including BRCA1, BRCA2, CDH1, and TP53. PALB2 is also associated with an increased risk for pancreatic cancer (NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate). The evidence for an association of RAD50 mutations with cancer susceptibility is limited and testing for this gene is not routine (Table 1). Patients who have a pathogenic variant in PALB2 are classified as having PALB2-related cancer predisposition syndrome (Cree et al. 2026). Similarly, patients with a pathogenic variant in RAD51C or RAD51D are classified as having RAD51-related cancer predisposition syndrome. The majority of pathogenic or likely pathogenic variants in PALB2, RAD51C and RAD51D are point mutations or indels, however CNVs make up an important proportion of variants, making up an estimated 5-15% of pathogenic variants in the corresponding gene in patients undergoing hereditary cancer predisposition testing (LaDuca et al. 2020).

Fanconi Anemia type N: Fanconi Anemia (FA) is primarily an autosomal recessive disorder characterized by physical abnormalities (such as short stature or abnormal skin pigmentation), bone marrow failure and increased risk for malignancies. FA type N is caused by biallelic pathogenic variants of PALB2, comprises less than 1% of FA cases (GeneReviews). Most of the aberrations found in Fanconi Anemia type N patients are point mutations or indels in PALB2, however a small number of individuals also have been reported to harbour large deletions (Toksoy et al. 2020, Xia et al. 2007).

Table 1. PALB2, RAD50, RAD51C and RAD51D associated cancer risk and management.

(Adjusted from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines): Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, version 1.2025)

Gene Cancer Absolute risk Strength of evidence
PALB2 Breast 32-53%

0.9% for male breast cancer

 Strong
Epithelial Ovarian 3-5% Strong
Pancreatic 2-5% Limited
RAD51C Breast ~20% Strong
Epithelial Ovarian 10-15% Strong
RAD51D Breast ~20% Strong
Epithelial Ovarian 10-20% 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 under the IVDR for in vitro diagnostic (IVD) use in Europe. This assay is also 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.

Translations and Summary of Safety and Performance

Translations of the product description in selected European languages are available upon request. Please contact us or one of our local sales partners. Translations of the MLPA General Protocol in selected languages are available here.

The Summary of Safety and Performance (SSP) is also available upon request.

List prices

Product

Item no.
Description
Technology
Price
P260-025R
SALSA MLPA Probemix P260 PALB2-RAD50-RAD51C-RAD51D – 25 rxn
MLPA
€ 296.00
P260-050R
SALSA MLPA Probemix P260 PALB2-RAD50-RAD51C-RAD51D – 50 rxn
MLPA
€ 580.00
P260-100R
SALSA MLPA Probemix P260 PALB2-RAD50-RAD51C-RAD51D – 100 rxn
MLPA
€ 1135.00

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
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

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 can be used with the current (C1) version of this product.

  • Coriell HG00634: Heterozygous duplication affecting the probe for PALB2 exon 13.
  • Coriell HG03857: Heterozygous deletion affecting the probes for PALB2 exon 5-7.
  • Coriell NA08039: Heterozygous duplication affecting the probes for PALB2.
  • Coriell NA14230: Heterozygous deletion affecting the probes for RAD50.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using 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.

CE2797

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.