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NCI Studies Link Dozens of Genetic Variants to Cancer

Numerous genetic variants linked to cancer could help clinicians detect high-risk patients and develop precision medicine approaches to treating individuals.

NCI studies have linked dozens of genetic variants to cancer

Source: Thinkstock

By Jessica Kent

- The discovery of genetic variants that are associated with cancer development could assist providers with identifying high-risk patients and crafting precision medicine therapies for oncology, according to new research funded by the National Cancer Institute (NCI).

The research, conducted by scientists participating in NCI’s Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative and the OncoArray Network, builds on the efforts of genome-wide association studies (GWAS) performed over the past decade.

GWAS studies reveal markers in a region of the genome that could contribute to disease risk.  Researchers then painstakingly map and explore these regions to pinpoint the variants that trigger cells to become cancerous.

The GAME-ON initiative provides a comprehensive look at these newly identified genetic variants, and the OncoArray Network uses a custom genotyping array to test DNA variants across several cancer types, which could help providers identify those in need of screenings to detect abnormalities earlier.

“Screening for cancer is not easy,” said Stefanie Nelson, PhD, Program Director in NCI’s Division of Cancer Control and Population Sciences.

“If we can help clinicians shift their focus to those most at risk, that would be really helpful.”

GAME-ON and the OncoArray Network collected genetic and clinical data from hundreds of thousands of patients to locate the changes in DNA that contribute to cancer development. The study also analyzed the relationship between genetics and other factors such as height, weight, and alcohol and drug use.

Researchers found 10 new variants linked to lung cancer and 63 variants associated with prostate cancer.  

Scientists also found 72 variants linked to breast cancer, 10 of which are specifically associated with the risk of developing estrogen receptor-negative disease, a condition with few previously known genetic associations.

Researchers noted that while the variants found through GWAS studies account for a little less than half of the familial risk of breast cancer, the variants found through GAME-ON and the OncoArray Network were rare mutations that have the potential to explain as much as two-thirds of a woman’s familial risk of breast cancer.

These findings will contribute to future research and further improve cancer risk prediction and personalized medicine.

Epidemiologists will use the results found by GAME-ON and the OncoArray Network to develop and test models that can predict cancer risk in patients. These models have shown promising results for estimating the risk of prostate and breast cancer, and researchers are evaluating whether genetic profiles can improve screening for these cancers.

Researchers also stated that the custom genotyping array developed by the OncoArray Network can be used to study all kinds of cancers.

Dozens of research groups contributed DNA to be genotyped using the custom array, and all network participants have agreed to share their research results in NIH’s Database of Genotypes and Phenotypes to allow the public to access the data.

While these newly identified risk variants are not sufficient enough on their own to cause cancer, they contribute to its complexity and could help researchers further understand the biological causes of cancer.


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