Researchers have identified 15 novel loci associated with cancer and discovered genetic correlations across different cancer types. These findings were published in the Journal of the National Cancer Institute.

The researchers analyzed data from genome-wide association studies (GWAS) of 12 cancer types. The data included 376,759 cancer cases and 532,864 control individuals of European ancestry.

The data revealed genetic correlations across the different cancer types. For instance, the researchers noted that lung cancer and renal cancer had “widespread genetic correlations with multiple other cancer types.” 

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In fact, subtypes of lung cancer were found to be more similar to cancers located at other sites than to other lung cancer subtypes. Squamous cell lung cancer had higher genetic correlation with esophageal cancer than with lung adenocarcinoma. Lung adenocarcinoma had higher genetic correlations with renal cancer and pancreatic cancer.

This pattern was found in breast cancer as well. Estrogen receptor (ER)-positive breast cancer had higher genetic correlation with endometrial cancer than with ER-negative breast cancer.

When the researchers conducted a meta-analysis of data from the individual GWAS, they identified 7 novel loci associated with cancers: 2p25.3, 2q24.2, 2q32.1, 2q37.1, 6p24.3, 15q15.3, and 18q21.31.

At 6q24.3, for example, the researchers identified an association with lead single nucleotide polymorphism rs9379084, a missense variant located in RREB1, a gene often expressed in tumors. The A allele of rs9379084 was associated with a decreased risk of colorectal cancer and an increased risk of breast cancer. 

The researchers also conducted transcriptome-wide association studies (TWAS) and identified 10 novel regions of cancer susceptibility. Two regions (2p25.3 and 2q32.1) were also identified in the GWAS analysis. The other 8 regions were 2q34, 7p12.3, 7q22.1, 9q33.3, 11p14.1, 14q13.2, 9q33.2, and 22q11.21-q12.1.

Lastly, the researchers identified 34 genetic variants in 5 regions associated with 3 cancer types and 4967 variants in 77 regions associated with 2 cancer types.

“[O]ur study provides additional insights into the shared genetic architecture of cancer,” the researchers wrote. “Overall, our results suggest that any future GWAS and/or TWAS meta-analysis of multiple cancer sites will continue to lead to the discovery of novel loci and shed further light on the shared genetic architecture underlying common cancer types.”

Disclosures: One study author declared affiliations with biotech, pharmaceutical, and/or device companies. Please see the original reference for a full list of disclosures.


Lindström S, Wang L, Feng H, et al. Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions. J Natl Cancer Inst. Published online March 17, 2023. doi:10.1093/jnci/djad043