Two large-scale studies have revealed a much clearer picture of inherited genes, which are linked to an increased risk of breast cancer in women without a family history of the dreaded disease. These studies have shown that how common these faulty mutations are in the general population. We all know that genetic inheritance impacts the probability of being diagnosed with breast cancer. Some genes are already known to shoot up the risk of cancer, whereas some are known to be involved in the process. It is important to understand which genes play a crucial role in increasing the risk of breast cancer, which will help health professionals to come up with more personalized follow-up and screening programs. The findings of the study have been released in the New England Journal of Medicine. The new study has reported that certain mutations in specific genes significantly increase the risk of breast cancer. Experts have said that the lives of many women can be saved if they get to know whether they carry these mutations in these genes before they are diagnosed with breast cancer. The American Cancer Society has revealed that last year, nearly 276000 cases of breast cancer have been reported in the US. The study has found that around 13800 of them have occurred in women with inherited gene mutations that shoot up the risk of developing the disease.
Earlier, experts have thought that inherited risk of breast cancer majorly comes from a family history of the disease or from unusual conditions such as getting it at a very young age. Specific mutations in these genes have not been well researched to find out how much each mutation affects the odds of developing the disease. However, the new studies have been able to fill some of those cracks. The first study has been led by pathologist Fergus Couch. This study has included experts from the National Institutes of Health (NIH). The NIH has sponsored the study along with the Breast Cancer Research Foundation. Experts have observed 12 genes, which are linked to a higher risk of breast cancer in nearly 64000 women. Half of the participants of the study have been diagnosed with the disease and half of them have been healthy. Experts have said that five percent of women with cancer have been identified with the deadly mutations and 1.63 percent of women in the control group have been found to have these risky mutations. The lead author of the study has claimed that nearly 2 percent of women in the United States have these deadly mutations. As per the study, there has been no difference in the odds of having these genes among ethnic groups. However, some gene mutations have been quite common among certain racial groups. Black women have been found to have genes linked to triple-negative cancers.
This study has found a mutation in a gene, which is known as BRCA1. Experts have said that this mutation increases the risk of breast cancer by eightfold. They have found this mutation in another gene called BRCA2, which shoots up the risk of developing breast cancer more than fivefold. The study provided more precise estimates of the risk, which will be beneficial for people to take further actions on it such as frequent mammograms, having family members tested for breast cancer, and removal of breasts and ovaries. The second study has been done by experts from the University of Cambridge in England. They have looked at 34 genes in women across the UK, Europe, Australia, and Asia. The study has included around 60000 women with breast cancer and 53000 women with similar genes but without the disease. This study as well has revealed that certain genes are responsible for an increased risk of breast cancer and these genes are prevalent in the general population as well.