Breast and ovarian cancer methylation markers and uses thereof
View Patent ↗Disclosed herein are methods and kits for identifying a subject as having breast cancer. Also provided herein are methods and kits for determining the prognosis of a subject having breast cancer and for determining the progression of breast cancer in a subject.
1. A method of generating a methylation profile of a biomarker from a biological sample from a subject suspected of having a breast cancer or an ovarian cancer,
wherein the methylation profile comprises data of the biomarker cg10673833,
the method comprising:
(a) detecting a methylation status of a treated genomic DNA derived from the biological sample for the biomarker of the methylation profile, wherein detection of the methylation status comprises performing a next-generation sequencing technique on the treated genomic DNA, and mapping sequencing reads from the next-generation sequencing technique to a reference to determine the methylation status of the biomarker; and
(b) generating the methylation profile based on the detected methylation status of the biomarker of the methylation profile from the treated genomic DNA.
2. The method of claim 1 , wherein the methylation profile further comprises data of the following biomarkers: cg01327147, cg02680086, cg04772948, cg04917276, cg05395187, cg07493516, cg08268679, cg08549335, cg09819083, cg13976210, cg14817783, cg15412918, cg18482112, cg20069090, cg24732563, cg00886954, and cg23690893.
3. The method of claim 1 , wherein the biological sample comprises a blood sample.
4. The method of claim 1 , wherein the biological sample comprises a tissue biopsy sample.
5. The method of claim 1 , wherein the biological sample comprises circulating tumor cells.
6. The method of claim 1 , wherein the methylation status is a methylation rate.
7. The method of claim 6 , wherein the methylation rate is a proportion of sequence reads showing methylation at the biomarker divided by the total number of reads covering the biomarker.
8. The method of claim 1 , wherein the breast cancer is a relapsed or refractory breast cancer.
9. The method of claim 1 , wherein the breast cancer is a metastatic breast cancer.
10. The method of claim 1 , further comprising extracting genomic DNA from the biological sample to obtain an extracted genomic DNA.
11. The method of claim 10 , further comprising treating the extracted genomic DNA to generate the treated genomic DNA, wherein the treated genomic DNA is suitable for use in a methylation analysis procedure for detecting the methylation status.
12. The method of claim 11 , wherein the treating of the extracted genomic DNA comprises processing the extracted genomic DNA with a deaminating agent.
13. The method of claim 1 , wherein the next-generation sequencing technique is a digital PCR sequencing method.
14. The method of claim 1 , wherein the biological sample is a cell-free DNA sample (cfDNA).