Choose your country to see the products for your location

SALSA MLPA Probemix P083 CDH1

SALSA® MLPA® Probemix P083 CDH1 detects copy number variations in the CDH1 gene.

Specifications

Contents: 35 MLPA probes, including 20 probes for the CDH1 gene region.

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

Application: hereditary diffuse gastric cancer (HDGC) and/or lobular breast cancer.

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

Quick links

List Prices Documentation

Key related products

SALSA MLPA Probemix P378 MUTYH

Includes probes for all exons of MUTYH, which is involved in development of colon and stomach cancer.

View all

Intended purpose

The SALSA MLPA Probemix P083 CDH1 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the CDH1 gene in genomic DNA isolated from human peripheral whole blood specimens and Research Use Only (RUO) assay on DNA isolated from fresh and frozen tumour tissue. P083 CDH1 is intended to confirm a potential cause for and clinical diagnosis of Hereditary Diffuse Gastric Cancer and/or Lobular Breast Cancer, and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Germline heterozygous mutations in the CDH1 gene have been reported in approximately 30-50% of families with a hereditary predisposition to diffuse gastric cancer (Oliveira et al. 2013). Cadherin-1 (CDH1) also known as E-cadherin is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein. Reduced expression of CDH1 is regarded as one of the main molecular events involved in dysfunction of the cell-cell adhesion system, triggering cancer invasion and metastasis.

Hereditary diffuse gastric cancer (HDGC) accounts for <1% of all gastric cancer patients (Sugimoto et al. 2015). The majority of the cancers in individuals with a CDH1 pathogenic variant occur before the age of 40. The penetrance of HDGC is incomplete and the estimated cumulative risk of gastric cancer by age 80 years is 70% for men and 56% for women. The frequency of CDH1 large deletions in hereditary diffuse gastric cancer is ~4% (Sugimoto et al. 2015, Oliveira et al. 2013, https://www.ncbi.nlm.nih.gov/books/NBK1139/).

If gastric cancer is detected early and is resected, the 5-year survival rate can be greater than 90%. However, HDGC has an infiltrative growth pattern and is difficult to diagnose. Once symptoms appear, affected individuals are in an advanced stage of the disease with a poor prognosis, with a 5-year survival rate lower than 20% (Oliveira et al. 2013). Therefore, clinical management options for carriers of germline CDH1 mutations include prophylactic gastrectomy and/or an intensive regimen of endoscopic surveillance. However, the value of a surveillance regime is not yet proven, as in most cases the gastric cancer is not detected until it reaches an incurable, advanced stage.

In addition, women also have a 42% risk for developing lobular breast cancer. For women carrying a CDH1 mutation, regular breast screening is recommended (Oliveira et al. 2013). Lobular breast cancer can be the first manifestation of HDGC, also in patients without a history of gastric cancer (Benusiglio et al. 2013).

More information on HDGC is available at: https://www.ncbi.nlm.nih.gov/books/NBK1139/.

Regulatory status

SALSA MLPA Probemix P083 CDH1 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.

Product documentation

Version D2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P083-025R
SALSA MLPA Probemix P083 CDH1 – 25 rxn
MLPA
€ 281.00
P083-050R
SALSA MLPA Probemix P083 CDH1 – 50 rxn
MLPA
€ 550.00
P083-100R
SALSA MLPA Probemix P083 CDH1 – 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

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 (D2) version of this product and have been shown to produce useful results.

  • Coriell NA12074: Heterozygous deletion affecting the probes for CDH1 gene. The flanking probes are not affected.
  • Coriell NA19092: Heterozygous duplication affecting the probes for CDH1 exon 4-16 and CDH1 downstream probe. The flanking probes are not affected.

Resources

General MLPA resources

MLPA education

Publications

References

  • Benusiglio PR et al. (2013). CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. J Med Genet. 50:486-9.
  • Oliveira C et al. (2013). Clinical utility gene card for: Hereditary diffuse gastric cancer (HDGC). Eur J Hum Genet. 21:891.
  • Sugimoto S et al. (2015). Recognition of and recent issues in hereditary diffuse gastric cancer. J Gastroenterol. 50:831-43.
This site uses cookies to help improve your online experience. Learn more
No, thank you accept

Sign in

Don't have an account? Create one

Forgot password?

Select Your Country

Choose your country to see the products for your location

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.