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CHEK2 Gene Variant Possibly Linked to Risk of Developing Clear Cell Kidney Cancer

By: Joseph Fanelli
Posted: Friday, April 3, 2020

According to a case study initially slated for presentation at the 2020 NCCN Annual Conference (Abstract CLO20-032) and published in the JNCCN–Journal of the National Comprehensive Cancer Network, a link between the presence of a pathogenic variant in the gene CHEK2 and an increase in the lifetime risk of developing clear cell renal carcinoma may have been identified. Catherine Steding, PhD, of Indiana State University, Terre Haute, and colleagues, stressed that if this association can be established with additional research, a patient’s family history of clear cell kidney cancer may be a valuable source of information for health-care providers conducting cancer screening.

“[These findings] could also impact medical management recommendations for patients who are found to have a pathogenic variant in CHEK2,” the authors added.

In this study, the authors explored the personal history of a patient with clear cell renal and gastric cancers, as well as an additional family history of clear cell renal and breast cancers. The patient also exhibited an IVS2+1G>A pathogenic variant in CHEK2, which is known to be associated with an increased lifetime risk of developing male and female breast cancer, colorectal cancer, and prostate cancer.

The patient’s twin brother also had a history of clear cell renal carcinoma, and two unaffected siblings demonstrated the same pathogenic variant. Additionally, another sibling of the patient had a history of clear cell renal carcinoma but had died before genetic testing was completed.

Disclosure: The authors reported no conflicts of interest.



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