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SALSA MLPA Probemix P083 CDH1

Diffuse gastric cancer, hereditary

Region: CDH1 16q22.1

MLPA | CE CO IL
Intended purpose
The SALSA MLPA Probemix P083 CDH1 is an in vitro diagnostic (IVD)1 or research use only (RUO) semi-quantitative assay2 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.

Copy number variations (CNVs) detected with P083 CDH1 should be confirmed with a different technique. In particular, CNVs detected by only a single probe always require confirmation by another method. Most defects in the CDH1 gene are point mutations, none of which will be detected by MLPA. It is therefore recommended to use this assay in combination with sequence analysis.

Assay results are intended to be used in conjunction with other clinical and diagnostic findings, consistent with professional standards of practice, including confirmation by alternative methods, clinical genetic evaluation, and counselling, as appropriate. The results of this test should be interpreted by a clinical molecular geneticist or equivalent.

This device is not intended to be used for standalone diagnostic purposes, population screening, or for the detection of, or screening for, acquired or somatic genetic aberrations from DNA extracted from formalin-fixed paraffin embedded (FFPE) tumour materials.

1 Please note that this probemix is for in vitro diagnostic (IVD) use in the countries specified at the end of this product description. In all other countries, the product is for research use only (RUO).
2 To be used in combination with a SALSA MLPA Reagent Kit and Coffalyser.Net analysis software.

Clinical background
Germline heterozygous mutations in the CDH1 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/.

Probemix content
The SALSA MLPA Probemix P083-D2 CDH1 contains 35 MLPA probes with amplification products between 130 and 400 nt. This includes 20 probes for the CDH1 gene region, and one upstream flanking probe and one downstream flanking probe. In addition, 13 reference probes are included that detect autosomal chromosomal locations with relatively copy number stable regions in various cancer types including colorectal cancer. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mrcholland.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P083-025R
SALSA MLPA Probemix P083 CDH1 – 25 rxn
€ 281.00
P083-050R
SALSA MLPA Probemix P083 CDH1 – 50 rxn
€ 550.00
P083-100R
SALSA MLPA Probemix P083 CDH1 – 100 rxn
€ 1075.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM
€ 6037.00

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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.

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IVD-registered in Colombia.

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IVD-registered in Israel.