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SALSA MLPA Probemix P378 MUTYH

SALSA® MLPA® Probemix P378 MUTYH detects copy number variations in the MUTYH gene and the SCG5/GREM1 region.

Specifications

Contents: 47 MLPA probes, including 18 probes for MUTYH, 2 probes for MUTYH mutations c.536A>G and c.1187G>A, and 12 probes for SCG5-GREM1 region.

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

Application: MUTYH-Associated Polyposis (MAP) and Hereditary Mixed Polyposis Syndrome type 1 (HMPS1).

CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

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Intended purpose

The SALSA MLPA Probemix P378 MUTYH is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the MUTYH gene, as well as the presence of the two most common point mutations among people of European descent, c.536A>G (p.Tyr179Cys) and c.1187G>A (p.Gly396Asp), in order to confirm a potential cause and clinical diagnosis of MUTYH-Associated Polyposis (MAP). In addition, P378 MUTYH can be used to detect duplications in the SCG5/GREM1 region in order to confirm a potential cause and clinical diagnosis of Hereditary Mixed Polyposis Syndrome type 1 (HMPS1). This assay is also intended for molecular genetic testing of at-risk family members. P378 MUTYH is for use with genomic DNA isolated from human peripheral whole blood specimens.

For the full intended purpose, see the product description.

Clinical background

Mutations in the MUTYH gene result in a hereditary predisposition to colon and gastric cancer, which is referred to as MAP. MAP is an autosomal recessive disorder. In MAP patients, ten to several hundred colonic adenomatous polyps develop, and these become evident at a mean age of 50 years. However, colon cancer can also develop in the absence of polyposis. A single defective copy of the MUTYH gene may result in no, or only a small increase in risk for colorectal cancer (CRC). There are two common MUTYH mutations, c.536A>G (p.Tyr179Cys) and c.1187G>A (p.Gly396Asp) that are carried by ~1%-2% of the general population and account for ≥90% of all MUTYH pathogenic variants in northern European populations. Up to 70% of MAP patients harbor at least one of these variants (Aretz et al. 2013). Copy number variations of MUTYH are very rare; they account for <1% of pathogenic alleles. The most frequent CNV in MUTYH - a deletion of exon 4-16 - is reported in multiple patients (Castillejo et al. 2014). More information on MAP is available at http://www.ncbi.nlm.nih.gov/books/NBK107219/.

A recurrent duplication of ~40 kb directly upstream of the GREM1 gene is known to lead to HMPS1. Patients with HMPS1 have a predisposition for developing CRC (Jaeger et al. 2012). Presence of this duplication is predicted to cause reduced bone morphogenetic protein (BMP) pathway activity, a mechanism that underlies tumorigenesis in juvenile polyposis of the large bowel. Several additional duplications in the GREM1 upstream region have been found: e.g. a duplication of the upstream region and the whole GREM1 gene of ~57 kb has been described in one patient with sigmoid colon carcinoma (Venkatachalam et al. 2011); a duplication of ~16 kb has been described in members of a family presenting with atypical FAP (Rohlin et al. 2016); and a duplication of ~24 kb in a patient with multiple colon polyps has been reported (McKenna et al. 2019). These different duplications can be detected by multiple probes in this P378-D1 probemix as is indicated in the table below. More information on HMPS1 is available at http://omim.org/entry/601228.

SALSA MLPA probe Probes expected to be affected in P378-D1 probemix (+), for each published duplication
length (nt) Probe number Gene & exon 40 kb (Jaeger et al. 2012) 57 kb (Venkatachalam et al. 2011) 16 kb (Rohlin et al. 2016) 24 kb (McKenna et al. 2019)
250 18353-L23307 SCG5 exon 2
202 18310-L14109 SCG5 exon 3 +
220 18352-L23306 SCG5 exon 4 + +
391 21357-L29761 SCG5 exon 5 + +
157 18309-L30392 SCG5 exon 6 + + + +
226 21353-L29757 SCG5 downstream + + + +
345 18356-L23310 GREM1 upstream + + + +
310 18354-L23308 GREM1 upstream + + +
136 18483-L23305 GREM1 exon 1 + +
161 18350-L23692 GREM1 exon 1 + +
363 18358-L23312 GREM1 exon 2 +
382 18360-L23314 GREM1 exon 2 +

Regulatory status

SALSA MLPA Probemix P378 MUTYH is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Colombia and Israel.

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

SALSA Sample DNA for this product

SALSA Binning DNA SD022 is an artificial DNA sample with a signal for all probes in the P378 MUTYH probemix. Inclusion of a reaction with SD022 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 SD022 is included with every order of the P378 MUTYH 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
P378-025R
SALSA MLPA Probemix P378 MUTYH – 25 rxn
MLPA
€ 281.00
P378-050R
SALSA MLPA Probemix P378 MUTYH – 50 rxn
MLPA
€ 550.00
P378-100R
SALSA MLPA Probemix P378 MUTYH – 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
SD022
SALSA Binning DNA SD022 – 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.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P378 MUTYH

  • Aimé A et al. (2015). Somatic c.34G>T KRAS mutation: a new prescreening test for MUTYH-associated polyposis? Cancer Genet. 208:390-5.
  • Castillejo A et al. (2014). Prevalence of germline MUTYH mutations among Lynch-like syndrome patients. Eur J Cancer. 50:2241-50.
  • Dell'Elice A et al. (2021). Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants. Mol Genet Genomic Med. 9:e1831.
  • Guarinos C et al. (2014). Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. Clin Cancer Res. 20:1158-68.
  • Lorca V et al. (2019). Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing. Sci Rep. 9:9814.
  • Morak M et al. (2014). Biallelic MUTYH mutations can mimic Lynch syndrome. Eur J Hum Genet. 22:1334-7.
  • Ricci MT et al. (2017). Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. J Hum Genet. 62:309-15.
  • Rohlin A et al. (2016). GREM1 and POLE variants in hereditary colorectal cancer syndromes. Genes Chromosomes Cancer. 55:95-106.
  • Taki K et al. (2016). Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients. Fam Cancer. 15:261-5.
  • Tsaousis GN et al. (2019). Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations. BMC Cancer. 19:535.

References

  • Aretz S et al. (2013). Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012. Eur J Hum Genet. 21.
  • Castillejo A et al. (2014). Prevalence of germline MUTYH mutations among Lynch-like syndrome patients. Eur J Cancer. 50:2241-50.
  • Jaeger E et al. (2012). Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat Genet. 44:699-703.
  • McKenna DB et al. (2019). Identification of a novel GREM1 duplication in a patient with multiple colon polyps. Fam Cancer. 18:63-6.
  • Rohlin A et al. (2016). GREM1 and POLE variants in hereditary colorectal cancer syndromes. Genes Chromosomes Cancer. 55:95-106.
  • Venkatachalam R et al. (2011). Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients. Int J Cancer. 129:1635-42.
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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.

IL

IVD-registered in Israel.