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Kidney cancer genetic risk discovery

5 December 2012


Scientists from The Institute of Cancer Research in London have found a new genetic variation which increases a person’s risk of developing the most common type of kidney cancer. The results are published in the journal Human Molecular Genetics.

The team carried out a genome-wide association study (GWAS), which is a method of scanning people’s DNA and identifying segments that are statistically linked to the development of cancer. The researchers discovered that a genetic variation in the ZEB2 gene is associated with a 1.3-fold increased risk of renal cell carcinoma – a slight increase. It is the fourth genetic variation to be linked to the disease.

Kidney cancer affects over 9,000 people in the UK each year, with renal cell carcinoma making up around nine out of 10 cases. While factors such as tobacco and obesity can cause renal cell carcinoma, it is believed that many cases are caused by inherited genetic factors.

Study author Richard Houlston, professor of molecular and population genetics at The Institute of Cancer Research, said: “With around 3,500 people dying from renal cell carcinoma in the UK each year it is vital we find the causes. This is a small but important step towards being able to identify those at increased risk of developing the disease.

“Once we know all the genetic links to renal cell carcinoma, it might be possible to pool the information in new tests to predict the risk of the disease. And identifying genes involved in the disease can highlight targets for tomorrow’s drugs, too.”

Prof Houlston’s team carried out a GWAS and combined this with data from earlier studies. They analysed 2,215 renal cancer patients and compared them with 8,566 healthy people. Following this, they carried out a more detailed analysis on the nine most likely genetic candidates using 3,739 renal cancer patients and comparing them with 8,786 healthy people. From these studies, they were able to pinpoint a genetic variation in the ZEB2 gene which slightly increases the risk of renal cancer.


  • Henrion M, Frampton M, Scelo G, Purdue M, Ye Y, Broderick P, Ritchie A, Kaplan R, Meade A, McKay J, Johansson M, Lathrop M, Larkin J, Rothman N, Wang Z, Chow WH, Stevens VL, Diver WR, Gapstur SM, Albanes D, Virtamo J, Wu X, Brennan P, Chanock S, Eisen T, and Houlston RS. Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer. Hum. Mol. Genet. (2012; advance online publication)
  • This research was funded by Cancer Research UK and the Medical Research Council, and conducted in collaboration with groups at the International Agency for Research on Cancer in Lyon, the US National Cancer Institute, and The University of Texas MD Anderson Cancer Center.
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