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SALSA® MLPA® Probemix P056 TP53 detects copy number variations in the TP53 and CHEK2 gene.
Contents: Contents: 40 MLPA probes, including 15 probes for the TP53 region covering all 11 exons and 4 probes for CHEK2 (including one for the c.1100delC mutation).
Tissue: genomic DNA isolated from human peripheral whole blood. Research use: genomic DNA from tumour tissue.
Application: Li-Fraumeni syndrome (LFS), Li-Fraumeni-like syndrome (LFL) and predisposition to CHEK2-related cancer types.
IVDR certified and registered for in vitro diagnostic (IVD) use in selected territories.
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 format of the product description. Some information can now be found in a different location (more information).
In a research setting this assay can be used on tumour tissue-derived DNA.
For the full intended purpose, see the product description.
Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. LFS is characterised by autosomal dominant inheritance and early onset of tumours, multiple tumours within an individual, and multiple affected family members. The most common types of tumours are adrenocortical carcinomas, breast cancer, central nervous system tumours, osteosarcomas, and soft-tissue sarcomas. Approximately 92% of LFS cases contain germline mutations in the tumour suppressor gene TP53. Families presenting incomplete features of LFS are referred to as having Li-Fraumeni-like syndrome (LFL), and 20-40% of these patients have a germline mutation in TP53 (Ruijs et al. 2010). Around 50% of the individuals carrying germline mutations in TP53 will develop cancer by the age of 30 years, with a lifetime cancer risk of ≥70% in men and almost ≥90% in women. Individuals with a germline TP53 pathogenic variant are managed by increased surveillance and are eligible for prophylactic surgery. Next to germline mutations, somatic pathogenic variants in TP53 are found in about 50% of all tumours, making it one of the most frequently altered genes in human cancers. For more information: https://www.ncbi.nlm.nih.gov/books/NBK1311/.
There is overlap in the clinical presentation of LFS and CHEK2-related cancer predisposition, which is associated with mutations in the CHEK2 gene and, in particular, the CHEK2 c.1100delC variant. This CHEK2-related cancer predisposition syndrome was previously known as Li-Fraumeni syndrome 2 (LFS2). For more information: https://omim.org/entry/609265.
SALSA MLPA Probemix P056 TP53 is CE-marked under the IVDR for in vitro diagnostic (IVD) use in Europe. This assay has also been registered for IVD use in Costa Rica and Israel.
This assay is for research use only (RUO) in all other territories.
SALSA Binning DNA SD067 is an artificial DNA sample with a signal for all probes in the P056 TP53 probemix. Inclusion of a reaction with SD067 in initial experiments and in experiments following a change in electrophoresis conditions is recommended to aid in the creation of a bin set that links peaks to the probes that produce them. Binning DNA cannot be used as a reference sample in the MLPA data analysis, and cannot be used to quantify the signals of mutation-specific probes.
A vial of SALSA Binning DNA SD067 is included with every order of the P056 TP53 probemix, but it is possible to order additional vials separately.
For more information, see the product description.
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.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
A vial is included with every order of this probemix, but additional vials can also be purchased separately.
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.
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.