Over 100 new genetic risk factors for CRC identified

Researchers at Fred Hutchinson Cancer Center have performed extensive and comprehensive analyzes of more than 100,000 cases. colorectal cancer (CRC) has identified over 100 new genetic risk factors strongly associated with this disease.

Survey resultswas published in natural geneticscombined large-scale studies with complex, in-depth analysis using multi-omics to demonstrate the power of using big data to gain further insight into the underlying biology of colorectal cancer. It may also help use the data as a basis for developing early screening strategies to identify patients at risk, as well as suggesting the best treatment options for patients diagnosed with CRC. .

“This is the largest and most comprehensive study to date of common genetic risk factors for colorectal cancer,” said Ulrike “Riki,” a molecular and genetic epidemiologist at Fred Hutchinson and lead author of the study. ” said Dr. Peters. “We are excited about the research findings, including the addition of over 100 genetic risk variants for this serious disease.”

The new study aims to add to the body of knowledge about CRC, which to date has identified 150 risk variants that are statistically independent by genome-wide association studies (GWAS). For this study, Peters and over 200 of her colleagues at various research centers focused on the genetic and environmental risk factors for CRC, and the genetic risk factors underlying a common and complex disease. We included the effects of race and ethnicity. The team’s previous research identified about 140 genetic markers for colorectal cancer.

The researchers performed a meta-analysis of 100,204 colorectal cancer cases and 154,587 disease-free controls. Both groups were of European or Asian ancestry. “We complemented GWAS with transcriptome- and methylome-wide association analyzes (TWAS and MWAS),” the researchers wrote.

The initial findings of this study identified 205 independent risk associations for colorectal cancer, 50 of which were not previously reported. TWAS and MWAS revealed an additional 53 genetic variants associated with this disease. This study is twice as large as his previous GWAS for CRC, and the group’s mixed ethnicity (including both European and Asian ancestry) suggests that most loci are shared between groups. indicated that

The findings also validated more commonly known risk factors for CRC, such as insulin resistance, smoking, and obesity, observed and reported in previous epidemiological studies.

Colorectal cancer is the leading cause of death worldwide. “Colorectal cancer is a serious disease, but it is preventable and can be successfully treated if detected early.”This study could pave the way for better screening and prevention. Yes, and can improve current methods of determining who is at higher risk.

“Germline genetic risk or genetic mutations (inherited from biological parents) play an important role in cancer risk and susceptibility.” Knowing who is at greatest risk can guide clinicians in recommending preventative measures and more frequent screening, potentially leading to earlier diagnosis and treatment and better patient survival outcomes. Staff Scientist at Fred Hatch, working with Sue and Peters.

Based on their findings, the researchers and collaborators are now using the results to identify individuals at high genetic risk for colorectal cancer and those who may have a minimal chance of developing the disease. We plan to develop a germline DNA-based test that can classify

The long-term goal is to combine genetic risk data with other risk factors (environmental, dietary, behavioral (e.g. smoking)) to create a multidimensional polygenic risk score (PRS) to predict the risk of developing CRC. to judge more accurately.