Provided herein is technology for colorectal neoplasia screening and particularly, but not exclusively, to methods, compositions, and related uses for detecting the presence of colorectal neoplasia in 1) individuals at, older or younger than 50 years of age, or 2) individuals having Lynch Syndrome.

Compositions, methods, and kits are provided for diagnosing and treating prostate cancer. In particular, cell-free DNA biomarkers have been identified that can be used to aid in diagnosis, selection of treatment, and monitoring of treatment of prostate cancer.

In an aspect, there is provided a method of detecting the presence of ctDNA from cancer cells in a subject comprising: (a) providing a sample of cell-free DNA from a subject; (b) subjecting the sample to library preparation to permit subsequent sequencing of the cell-free methylated DNA; (c) optionally adding a first amount of filler DNA to the sample, wherein at least a portion of the filler DNA is methylated, then further optionally denaturing the sample; (d) capturing cell-free methylated DNA using a binder selective for methylated polynucleotides; (e) sequencing the captured cell-free methylated DNA; (f) comparing the sequences of the captured cell-free methylated DNA to control cell-free methylated DNAs sequences from healthy and cancerous individuals; (g) identifying the presence of DNA from cancer cells if there is a statistically significant similarity between one or more sequences of the captured cell-free methylated DNA and cell-free methylated DNAs sequences from cancerous individuals; wherein in at least one of the capturing step, the comparing step or the identifying step, the subject cell-free methylated DNA is limited to a sub-population according to a fragment length metric.

Products, systems, and methods for classifying human colorectal cancer into a consensus molecular subtype (CMS) and for assessing risk of recurrence based on CMS scores and based on risk scores derived from abbreviated gene expression profiles, for determining suitable treatment protocols for human colorectal cancer patients based on the determined CMS classification and based on the determined risk of recurrence, and for administering the suitable treatment protocols.

The present disclosure relates generally to compositions and methods for determining cell type based on a methylation profile of associated DNA. For cell free DNA, such determination can be used to identify disease or conditions relating to the cell type. For tumor cells, such determination is useful for identifying their primary origin.

Provided herein are methods and materials involved in assessing samples (e.g., cancer cells) for the presence of homologous recombination deficiency (HRD) or an HRD signature. For example, methods and materials for determining whether or not a cell (e.g., a cancer cell) contains an HRD signature are provided. Materials and methods for identifying cells (e.g., cancer cells) having a deficiency in homology directed repair (HDR) as well as materials and methods for identifying cancer patients likely to respond to a particular cancer treatment regimen also are provided.

A method of screening a skin whitening agent uses the stromal cell-derived factor 1 (SDF1) promoter region, the correlation between the expression amount of the skin pigment and the expression of the SDF1 promoter is observed and thus it is expected to be available in systems for pre-screening pigmentation substances and pigment reduction materials, and the drugs screened by the method is used for treatment of skin pigment-related diseases.

Provided herein is technology for colorectal neoplasia screening and particularly, but not exclusively, to methods, compositions, and related uses for detecting the presence of colorectal neoplasia in 1) individuals at, older or younger than 50 years of age, or 2) individuals having Lynch Syndrome.

Described are epigenetic biomarkers of breast cancer and their use in breast cancer screening and diagnosing, or to provide disease prognosis in a subject. The epigenetic biomarkers include methylatable regions (MRs), which may be at least one segment from nucleic acid sequences represented in Table 1. Described are also methods of detecting the methylation level of MRs in the subject, the methylation score (mSCORE) of the subject, and using these values to evaluate a breast cancer risk in a subject, or diagnose a subject with breast cancer. Also described are methods of determining a risk of recurrence and disease prognosis in a subject undergoing or having undergone a treatment for breast cancer.

A method for diagnosing or giving a prognosis for anxious temperament or trait-like anxiety in a human or non-human primate subject comprising the steps of (a) obtaining DNA from a blood or saliva sample from the subject and (b) quantifying methylation in a set of differentially methylated regions (DMRs) selected from SEQ ID NOs:1-75 or DMR-associated genes selected from DIP2C, GRB10, INPP5A, C17ORF97, PDXK, CACNA2D4, TRAPPC9, CRTC1, MEGF6, HIVEP3, OPCML, PITPNM2, ZFPM1, RAP1GAP2, NFATC1, RNF126, FSTL3, GNAS, SH3BP2, NEURL1B, MAD1L1, HSPA12B, IGF2, PEG10, PEG3, SLC16A3, SYTL1, and ZIM2, wherein a significant change methylation indicates the present of anxious temperament or trait-like anxiety, wherein the change is relative to DNA from a second human or non-human primate who does not have anxious temperament or trait-like anxiety. Also disclosed is a biomarker panel of DMR and DMR-associated genes for the diagnosis or prognosis of anxious temperament or trait-like anxiety.