More than 80 genome regions that can raise a person’s risk of developing prostate, breast and ovarian cancers, have been identified in a huge study led by scientists from the University of Cambridge and The Institute of Cancer Research, London.

cancerovarian cancers

Nature Communications, Nature Genetics, PLOS Genetics, the American Journal of Human GeneticHuman Molecular Genetics

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An SNP (“typo” or “spelling mistake”) is a change of a nucleotide at a single base-pair location on DNA

prostate cancers

people with many SNPs may have a nearly 30% higher risk of developing breast cancer and 50% higher risk of prostate cancer

“We’re on the verge of being able to use our knowledge of these genetic variations to develop tests that could complement breast cancer screening and take us a step closer to having an effective prostate cancer screening program.

By looking for people who carry most of these variations we will be able to identify those who are at the greatest risk of getting these cancers and then targeting screening tests to these individuals.”

The more we understand how these genes affect the emergence and progression of cancer, the more effective treatments and prevention programs will become

“The identification of genetic variants that are associated with cancer risks will give us important insights into the basic biology of cancer that may lead to the development of new therapies or better ways to target existing therapies.”

  • Prostate cancer – the scientists found 23 genetic variations associated with prostate cancer, bringing the total to 78. Sixteen of these variations are specifically linked to the more aggressive and fatal forms of the disease.

    Dr Jyotsna Batra, a Genetics scientist with Queensland University of Technology’s (QUT’s) Institute of Health and Biomedical Innovation, Australia, explained that scientists can now explain 35% of the hereditary risk of prostate cancer by combining the effects of the 78 variations – but it also means we still have 65% to go. QUT’s main contribution to the study was in the area of prostate cancer.

    The scientists suggest that 78 may be just the tip of the iceberg and that there might be over 2,000 such markers that influence a man’s risk of developing the disease.

  • Ovarian cancer – the scientists found 11 SNPs associated with ovarian cancer. It will also become possible to identify high risk females so that they may be offered more regular and earlier screening and closer monitoring.

    The Moffitt Cancer Center, Florida, focused on regions of the genome that influence ovarian cancer risk. Moffitt’s Director, Thomas A. Sellers, Ph.D., M.P.H., and 17 other co-authors explained that through large-scale analysis of over 18,000 women with ovarian cancer and over 26,000 healthy women, scientists are now much closer to understanding the inherited factors that contribute to this disease.

  • Breast cancer – 49 SNPs associated with breast cancer were identified, more than doubling the number previously identified with the disease.

  • 5% of the females who carry the BRCA1 fault as well as most of the genetic mutations linked to BRCA1 have a higher than 80% risk of developing breast cancer by the time they reach 80 years of age.

  • Females with the BRCA1 defects and few of these variants have a 50% chance of developing beast cancer.
What does this mean for women with defects in their BRCA genes?

“Current research is identifying many variants in the genome that are associated with breast cancer. My work at the CRUK Cambridge Institute studies the mechanisms underlying these associations. We examine how variants function to regulate specific target genes and what these target genes are.

Although some well-known cancer genes have been identified as targets, for example the cell cycle regulator CCND1, we have found that its dysregulation leading to breast cancer risk confounds expectations. Through a better understanding of the biology of cancer risk we hope to find interventions and therapies.”


Per Hal explains how the new study will impact on how we deal with cancer