Assay
AssigneeCambridge Enterprise Limited
InventorsRichard GILBERTSON, Eric RAHRMANN, David SHORTHOUSE
Life of this patent
Estimating the term…
Abstract
A method for the detection or prognosis of cancer and/or metastasis is provided. Tumour samples may be used to determine the presence of a mutation within the sodium leak channel (NALCN). A risk score of cancer and/or metastasis can be determined based on if the mutation causes a reduction in the pore size of NALCN. A computational model, a composition, and a kit are also provided.
Claims28
A method for the detection or prognosis of cancer and/or metastasis comprising:
- analysing a tumour sample obtained from a subject,
- determining the presence of at least one mutation within sodium leak channel (NALCN) in the tumour sample, compared to a reference sample,
- determining whether the at least one mutation causes a reduction in the pore size of NALCN, and
- where the mutation causes a reduction in the pore size of NALCN, using the reduction in pore size to determine a risk score of cancer and/or metastasis.
A method for the detection or prognosis of cancer and/or metastasis comprising:
- analysing a biological sample obtained from a subject, to assess the activity of sodium leak channel (NALCN),
- providing a risk score of cancer and/or metastasis based on the level of activity of NALCN.
A method for the detection or prognosis of cancer and/or metastasis comprising:
- analysing a biological sample to detect the presence of one or more mutations which correspond to a reduction of function of NALCN, and
- providing a risk score of cancer and/or metastasis based on the presence of one or more mutations which correspond to a reduction of function of NALCN.
The method according to any preceding claim, wherein the method comprises a further step of identifying the stage of the cancer based on the one or more mutations that are identified.
The method according to any preceding claim, wherein the method comprises a further step of selecting a treatment.
The method according to any preceding claim, wherein the cancer is selected from gastric cancer, gastric adenocarcinoma, colorectal cancer, lung cancer, non-small cell lung cancer, lung adenocarcinoma, lung squamous cell carcinoma, bone cancer, pancreatic cancer, colon cancer, colorectal cancer, skin cancer, cancer of the head or neck, head and neck squamous cell carcinoma, melanoma, uterine cancer, ovarian cancer, rectal cancer, cancer of the anal region, stomach cancer, testicular cancer, breast cancer, brain cancer, hepatocellular cancer, carcinoma of the fallopian tubes, carcinoma of the endometrium, carcinoma of the cervix, carcinoma of the vagina, carcinoma of the vulva, cancer of the esophagus, cancer of the small intestine, cancer of the endocrine system, cancer of the thyroid gland, cancer of the parathyroid gland, cancer of the adrenal gland, kidney cancer, sarcoma of soft tissue, cancer of the urethra, cancer of the bladder, renal cancer, thymoma, urothelial carcinoma leukemia, prostate cancer, prostatic adenocarcinoma mesothelioma, adrenocortical carcinoma, lymphomas, such as such as Hodgkin's disease, non-Hodgkin's, and multiple myelomas.
A method for determining the activity of NALCN comprising:
- analysing a biological sample to detect one or more mutations identified in Table 2, wherein the presence of one or more mutation identified in Table 2 indicates reduced activity of NALCN.
The method according to any preceding claim wherein the biological sample is analysed in vitro or ex vivo.
The method according to any preceding claim, wherein the biological sample is a tissue sample or a tumour sample.
A kit comprising reagents for the detection of one or more mutations in NALCN, wherein the mutation correlates to a reduction in activity of NALCN and/or a reduction in pore size of NALCN and optionally instructions for use.
A composition comprising reagents for the detection of one or more mutations in NALCN, wherein the mutation correlates to a reduction in activity of NALCN and/or a reduction in pore size of NALCN.
A computer-implemented method for determine a risk score of cancer and/or metastasis, the method comprising:
- obtaining data indicating presence of at least one mutation in a sodium leak channel, NALCN, in a tumour sample;
- inputting the data into a computational model of NALCN that simulates effects of mutations on NALCN;
- determining, using the computational model, whether the at least one mutation causes a reduction in a pore size of NALCN;
- and
- outputting, when the at least one mutation is determined to cause a reduction in pore size of NALCN, a risk score of cancer and/or metastasis.
Dependencies are inferred from the claim text.