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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 region.

Tissue: genomic DNA isolated from human peripheral whole blood.
Research use only: genomic DNA from human fresh, frozen or formalin-fixed paraffin-embedded (FFPE) tumour tissue.

Application: diffuse gastric and lobular breast cancer syndrome (DGLBCS).

IVDR certified and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

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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 P083 CDH1 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative manual assay for the detection of deletions in the CDH1 gene in genomic DNA isolated from human peripheral whole blood specimens. P083 CDH1 is intended to confirm a potential cause for, and clinical diagnosis of, diffuse gastric and lobular breast cancer syndrome (DGLBCS), and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Diffuse gastric and lobular breast cancer syndrome (DGLBCS), also referred to as hereditary diffuse gastric cancer (HDGC), is an autosomal-dominant cancer predisposition syndrome associated with the increased risk of diffuse gastric cancer (DGC) in males and females, and lobular breast cancer (LBC) in females (GeneReviews).

CDH1 is the main gene known to cause DGLBCS. Cadherin-1 (CDH1) also known as E-cadherin is a classical cadherin from the cadherin superfamily which encodes a calcium-dependent cell-cell adhesion glycoprotein (GeneReviews, 2024). 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.

It is estimated than 10-40% of individuals with DGLBCS have pathogenic variants in the CDH1 gene (GeneReviews). Of those with a pathogenic variant in CDH1, it is estimated that 5-18% have large deletions in CDH1, while an estimated 82-95% have single nucleotide variants or small deletions or insertions.

The average age of diagnosis for DGC in individuals with a pathogenic CDH1 variant is ranges from 38-80 years (NCI). In patients with a pathogenic CDH1 variant, the estimated cumulative risk of being diagnosed with DGC by 80 years old is 37-70% for men and 25-83% for women. For LBC, the average age of diagnosis ranges from 46-50 years, and the estimated cumulative risk of women with a pathogenic CDH1 variant being diagnosed with LBC by 80 years old is 39-55%.

If DGC is detected early and resected, the 5-year survival rate can be greater than 75-90%, however, HDGC has an infiltrative growth pattern and is difficult to diagnose (GeneReviews). Once symptoms appear, affected individuals are most likely in an advanced stage of the disease with a poor prognosis, with a 5-year survival rate lower than 30%. Therefore, recommended clinical management options for carriers of germline CDH1 mutations include prophylactic gastrectomy and/or an intensive regimen of endoscopic surveillance at expert centres (Blair et al., 2020). If DGC is detected early and is resected, the 5-year survival rate can be greater than 75-90% (Pereira, 2022). However, DGC has an infiltrative growth pattern and is difficult to diagnose. (GeneReviews, 2024).. While total gastrectomy eliminates the risk of patients developing DGC, endoscopic surveillance alone can delay the identification and treatment of gastric cancer. . For women, increased breast surveillance should be undertaken, and risk-reducing contralateral mastectomy and chemoprevention may also be considered.

More information on HDGC is available at: https://www.ncbi.nlm.nih.gov/books/NBK1139/ and https://www.cancer.gov/publications/pdq/information-summaries/genetics/hereditary-diffuse-gastric-cancer-hp-pdq.

Regulatory status

SALSA MLPA Probemix P083 CDH1 is CE-marked under the IVDR for in vitro diagnostic (IVD) use in Europe. 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.

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
P083-025R
SALSA MLPA Probemix P083 CDH1 – 25 rxn
MLPA
€ 286.00
P083-050R
SALSA MLPA Probemix P083 CDH1 – 50 rxn
MLPA
€ 560.00
P083-100R
SALSA MLPA Probemix P083 CDH1 – 100 rxn
MLPA
€ 1096.00

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
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

Other products

These optional accessories can be ordered separately.

Item no.
Description
Technology
Price
SMR05
SALSA FFPE Solution (SFS) – 50 rxn (10 ml)
MLPA MS-MLPA
€ 45.00

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 (D2) version of this product.

  • 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

Selected publications using P083 CDH1

  • Ben Aissa-Haj J et al. (2022). The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1/2 Negative and Breast Cancer Susceptibility. Genes (Basel). 13:2213.
  • Ben Aissa-Haj J et al. (2022). CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma. Genes (Basel). 13:400.
  • Hakkaart C et al. (2019). Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Maori. Fam Cancer. 18:83-90.
  • Marwitz T et al. (2020). Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status. Cancers (Basel). 12:3726.
  • Petridis C et al. (2014). Germline CDH1 mutations in bilateral lobular carcinoma in situ. Br J Cancer. 110:1053-7.
  • Schrader KA et al. (2011). Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers. J Med Genet. 48:64-8.
  • Tedaldi G et al. (2019). Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition. Cancers (Basel). 11:1340.

References

  • Blair VR et al. (2020). Hereditary diffuse gastric cancer: updated clinical practice guidelines. Lancet Oncol. 21:e386-97.
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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.

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.

CO

IVD-registered in Colombia.

IL

IVD-registered in Israel.