Breast cancer study uncovers new genetic variants for increased risk

          The scientists identified that common inherited genetic variants increase the risk of breast cancer by about a one fifth. A group of researcher’s team, who were working around the world, found out 65 new variants; on their own, they contributed around 4% of the two - folded heightened risk of women with a strong family history of breast cancer developing the disease. The relative familial risk was estimated around 34%, when 200 more variants were added. It is estimated that 1% of women have a risk of breast cancer more than three times greater than that of women in the general population, combining the genetic factors with hormonal and lifestyle influences was likely to increase the risk. Some women may benefit from more intensive screening, starting a younger age, or using more sensitive screening techniques, allowing early detection and prevention of the disease.  

          The genetic variants have some clear patterns in them that help us understand why some women are predisposed to breast cancer, and which genes and mechanisms are involved. Genetic studies related to this case look for loci, loci are regions of DNA that increase the risk of disease. It may contain rogue genes, or DNA sequence that do not contain instructions for making proteins but control gene activity. OncoArray scientists were able to make predictions about many target genes, a first step towards designing some new treatments, but pinpointing specific genes is difficult. Using data from genomic studies, combined with information on other known risk factors, will allow better breast cancer risk assessment, therefore helping to identify a small but significant amount of women at high risk of breast cancer.   

References:

Association, P. (2017, October 23). Breast cancer study uncovers new genetic variants for increased risk. Retrieved October 25, 2017, from https://www.theguardian.com/society/2017/oct/23/breast-cancer-breakthrough-as-study-uncovers-new-genetic-variants-that-increase-risk

Griffin, A. (2017, October 23). Scientists find some of the genetic variants responsible for increasing women’s’ chance of breast cancer. Retrieved October 26, 2017. http://www.independent.co.uk/news/science/breast-cancer-genetics-vartiants-discovery-find-research-latest-cure-screening-a8015881.html