Biomarker panel and methods for detecting microsatellite instability in cancers
AssigneeBiocartis NV
InventorsBram De Craene, Klaas Decanniere, Jan Van De Velde
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Abstract
The present invention generally relates to the field of cancer, in particular to cancers having microsatellite instability (MSI) and/or mismatch repair (MMR-) deficiency. Examples of such cancers include many colorectal, gastric, and endometrial tumors. Accordingly, the present invention provides a novel diagnostic marker panel for analyzing MSI loci, together with methods and kits of using said panel in the detection of cancers having microsatellite instability (MSI) and/or mismatch repair (MMR-) deficiency.
Claims22
A biomarker panel for analyzing MSI loci in a biological sample, the panel comprising the following homopolymeric repeat regions, or mutated forms thereof, as mapped to GRCh38/hg38 human reference genome:
- homopolymeric repeat comprising 11 consecutive adenines localized to human DIDO1 gene and starting at position chr20:62,905,340;
- homopolymeric repeat comprising 11 consecutive adenines localized to human MRE11 gene and starting at position chr11:94,479,765;
- homopolymeric repeat comprising 10 consecutive adenines localized to human SULF2 gene and starting at position chr20:47,657,577;
- and
- homopolymeric repeat comprising 8 consecutive adenines localized to human ACVR2A gene and starting at position chr2:147,926,117.
A method of analyzing MSI loci in a biological sample, comprising the step of:
- determining the number of nucleotides in the following homopolymeric repeats as mapped to GRCh38/hg38 human reference genome:
- homopolymeric repeat comprising 11 consecutive adenines localized to human DIDO1 gene and starting at position chr20:62,905,340;
- homopolymeric repeat comprising 11 consecutive adenines localized to human MRE11 gene and starting at position chr11:94,479,765;
- homopolymeric repeat comprising 10 consecutive adenines localized to human SULF2 gene and starting at position chr20:47,657,577;
- and
- homopolymeric repeat comprising 8 consecutive adenines localized to human ACVR2A gene and starting at position chr2:147,926,117.
Cell or any other material derived from cell line HTC116 cl.110268743.
Dependencies are inferred from the claim text.