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SALSA MLPA Probemix P056 TP53

SALSA® MLPA® Probemix P056 TP53 detects copy number variations in the TP53 and CHEK2 gene.

Specifications

Contents: 40 MLPA probes, including 15 probes for TP53 (covering all 11 exons), 7 flanking probes and 4 probes for CHEK2 (including one for the 1100delC mutation).

Tissue: genomic DNA isolated from human peripheral whole blood. Research use: genomic DNA from tumour tissue.

Application: Li-Fraumeni syndrome (LFS1) and Li-Fraumeni-like syndrome (LFL). Research use: Li-Fraumeni syndrome (LFS2).

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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Intended purpose

The SALSA MLPA Probemix P056 TP53 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in TP53 gene in genomic DNA isolated from human peripheral whole blood specimens. P056 TP53 is intended to confirm a potential cause for and clinical diagnosis of Li-Fraumeni syndrome (LFS1) or Li-Fraumeni-like syndrome (LFL) and for molecular genetic testing of at-risk family members. In addition, this assay can be used to detect deletions or duplications in the human CHEK2 gene exons 8, 10 and 13 and the 1100delC mutation, to determine a suggested cause for Li-Fraumeni syndrome (LFS2) in a research setting.

In a research setting this assay can be used on tumour tissue-derived DNA.

For the full intended purpose, see the product description.

Clinical background

Li-Fraumeni syndrome (LFS or LFS1) 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/.

A second form of LFS (LFS2) has been suggested to be caused by mutations in the CHEK2 gene, in particular the CHEK2 1100delC variant. However, it is currently still under debate whether CHEK2 gene mutations actually cause LFS or are merely associated with an increased risk of several types of cancer, including those cancers often seen in LFS. Importantly, pathogenic CHEK2 variants still pose an increased risk of developing cancer, even if CHEK2 might not be associated with LFS. For more information: https://omim.org/entry/609265.

Regulatory status

SALSA MLPA Probemix P056 TP53 is CE-marked for in vitro diagnostic (IVD) use. 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 Sample DNA for this product

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.

Product documentation

Version D1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P056-025R
SALSA MLPA Probemix P056 TP53 – 25 rxn
MLPA
€ 281.00
P056-050R
SALSA MLPA Probemix P056 TP53 – 50 rxn
MLPA
€ 550.00
P056-100R
SALSA MLPA Probemix P056 TP53 – 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 (included)

A vial is included with every order of this probemix, but additional vials can also be purchased separately.

Item no.
Description
Technology
Price
SD067
SALSA Binning DNA SD067 – 6 rxn
MLPA
€ 23.70

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.

Chromosome 17

  • DSMZ ACC-203 (SK-N-MC): Heterozygous deletion affecting the probes for POLR2a, MPDU1, ATP1B2, TP53, EFNB3 and AKAP10, and the reference probe at 471 nt. Homozygous deletion affecting the probes for TP53 exon 2. In addition, a heterozygous duplication affecting the reference probe at 135 nt.

CHEK2

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P056 TP53

  • Andrade RC et al. (2017). TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes. Fam Cancer. 16:243-8.
  • Bakhuizen JJ et al. (2019). TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort. Fam Cancer. 18:273-80.
  • Fukushima H et al. (2022). Cancer predisposition genes in Japanese children with rhabdomyosarcoma. J Hum Genet. 67:35-41.
  • Llovet P et al. (2017). A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. Fam Cancer. 16:567-75.
  • Magnusson S et al. (2012). Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: a population-based survey. Pediatr Blood Cancer. 59:846-53.
  • Mitchell G et al. (2013). High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. PLoS One. 8:e69026.
  • Mouchawar J et al. (2010). Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study. Cancer Res. 70:4795-800.
  • Rath MG et al. (2013). Prevalence of germline TP53 mutations in HER2+ breast cancer patients. Breast Cancer Res Treat. 139:193-8.
  • Ruijs MWG et al. (2010). TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet. 47:421-8.
  • Silva AG et al. (2012). Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion. BMC Cancer. 12:237.

References

  • Ruijs MWG et al. (2010). TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet. 47:421-8.
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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.

CR

IVD-registered in Costa Rica.

IL

IVD-registered in Israel.