D001 Hereditary Cancer Panel 1

SALSA^® digitalMLPA™ Probemix D001 Hereditary Cancer Panel 1 detects copy number variations in genes associated with hereditary predisposition to breast, ovarian, colorectal, gastric, prostate, pancreatic or endometrial cancer, or melanoma.

Specifications

Contents: 723 probes, including 575 probes for 28 hereditary cancer-related genes (of which 3 probes detect the wild type allele of mutations in PMS2, POLE and BRCA2), and 7 mutation-specific probes for MSH2, MITF, PMS2 and CHEK2.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: research on predisposition to 8 common cancer types.

For research use only (RUO). Not for use in diagnostics.

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General information

SALSA^® digitalMLPA™ Probemix D001-D1 Hereditary Cancer Panel 1 is a research use only (RUO) assay for the detection of deletions or duplications and the presence/absence of several mutations (including inversions) in the genes mentioned in Table 2 of the product description, which are associated with hereditary predisposition for formation of breast, ovarian, colorectal, gastric, prostate, pancreatic or endometrial tumours, or for melanoma.

The image below shows all target genes and all targeted variants for this probemix. Click the image to enlarge.

Sample number calculator

Use the calculator below to get an indication of the number of samples that can be included in a sequencing run. Click here if you are having issues loading or using the calculator, or if you would like more information about the calculation.

Regulatory status

SALSA digitalMLPA Probemix D001 Hereditary Cancer Panel 1 is for research use only (RUO) in all territories.

Product documentation

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.

See this support article for commercially available positive samples that have been tested with this product.

Related products

Related MLPA probemixes that can be used for confirmation

The probemixes below can be used for confirmation because most of the target probes have different ligation sites than those in D001 Hereditary Cancer Panel 1. Some probes may still have identical ligation sites; contact us for more information if required.

P041 ATM-1: Contains probes for ATM (used together with P042 ATM-2).
P042 ATM-2: Contains probes for ATM (used together with P041 ATM-1).
P043 APC: Contains probes for APC; also contains probes for MUTYH, but those cannot be used for confirmation.
P077 BRCA2 Confirmation: Contains probes for BRCA2.
P083 CDH1: Contains probes for CDH1.
P087 BRCA1 Confirmation: Contains probes for BRCA1.
P101 STK11: Contains probes for STK11.
P158 JPS: Contains probes for BMPR1A, SMAD4 and PTEN.
P240 BRIP1/CHEK1: Contains probes for BRIP1; also contains probes for CHEK1.
P248 MLH1-MSH2 Confirmation: Contains probes for MLH1 and MSH2.
P260 PALB2-RAD50-RAD51C-RAD51D: Contains probes for PALB2, RAD51C and RAD51D; also contains probes for RAD50.

Related MLPA probemixes that cannot be used for confirmation

The probemixes below cannot be used for confirmation because most of the target probes have identical ligation sites as those in D001 Hereditary Cancer Panel 1.

P002 BRCA1: Contains probes for BRCA1.
P003 MLH1/MSH2: Contains probes for MLH1, MSH2 and EPCAM.
P008 PMS2: Contains probes for PMS2.
P045 BRCA2/CHEK2: Contains probes for BRCA2 and CHEK2.
P056 TP53: Contains probes for TP53 and CHEK2.
P072 MSH6-MUTYH: Contains probes for MSH6, MUTYH and EPCAM.
P090 BRCA2: Contains probes for BRCA2.
P190 CHEK2: Contains probes for CHEK2.
P225 PTEN: Contains probes for PTEN.
P378 MUTYH: Contains probes for MUTYH and SCG5/GREM1.
P417 BAP1: Contains probes for BAP1.
P419 CDKN2A/2B-CDK4: Contains probes for CDKN2A, CDK4 and a probe for MITF c.952G>A (p.E318K); also contains probes for CDKN2B.
P489 BARD1: Contains probes for BARD1.
P492 POLD1 - POLE: Contains probes for POLE; also contains probes for POLD1.
P494 NBN: Contains probes for NBN.

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