In the largest cancer genotyping study to date, an international team of scientists spanning more than 160 research groups has identified 74 new genetic regions associated with breast, ovarian or prostate cancer—a near doubling of the number of susceptibility loci linked to these three hormone-related cancers.

“These findings are very significant and show the power of international collaborative research that provided additional knowledge regarding the common risk factors,” says Jan Korbel, a molecular biologist who studies prostate cancer at the European Molecular Biology Laboratory in Heidelberg, Germany, who was not part of the study.

The researchers discovered the genetic regions using a custom-built genotyping array comprised of around 200,000 single nucleotide polymorphisms (SNPs) drawn mainly from previous genome-wide association studies of different cancer types. This method pinpointed 23 previously unidentified susceptibility loci linked to prostate cancer, 16 of which were associated with more aggressive and life-threatening forms of the disease. The same approach flagged 49 new SNPs for breast cancer and 11 new regions associated with ovarian cancer.

The work—the product of the EU-funded Collaborative Oncological Gene-Environment Study—was published online today in a series of 13 papers in Nature Genetics, Nature CommunicationsPLOS Genetics, the American Journal of Human Genetics and Human Molecular Genetics.

Similar to previous reports, these studies uncovered genetic variations in regions that are shared among the three cancers, suggesting a common genetic basis and mechanism of pathology. “We presume that these particular genes are important across cancer types, but the way these genes are regulated is different across tissues,” said Douglas Easton, director of the Center for Cancer Genetic Epidemiology at the University of Cambridge, UK, who led the breast cancer work, at a press briefing.

Many of the newly identified SNPs are located in genome regions that affect cell growth and proliferation. The authors hope the work will open the door to the future development of biomarkers and therapeutic targets for improved clinical diagnostics and intervention.

“As we understand the biology of genetic susceptibility, it may impinge directly on the way we think about the tumor biology and the personalized treatment of the tumor based on the molecular characteristics,” said University of Cambridge oncologist Paul Pharoah, a senior author of the paper on ovarian cancer, at the press briefing.


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