Scientists from Columbia University in the US have found two more genetic mutations that increase the risk of breast cancer – up to two times in people under the age of 60. “They should be added to the list of genes that should be tested if there was breast cancer in the patient’s family, informs the magazine” – the researchers sensitized.
These are the MSH6 and PMS2 genes. So far, they have been known to be associated with an increased risk of Lynch syndrome, i.e. a hereditary cancer predisposition syndrome – especially of the large intestine, but also of the endometrium, ovaries and urinary system. It is estimated that this team is responsible for about 3 percent. diagnosed with colorectal cancers, and the genetic variants causing Lynch syndrome have 1 in 440 Americans.
Scientists analyzed data on more than 50. women who in 2013-2015 underwent genetic tests for an increased risk of cancer. 423 women in this group had mutations in one of the four genes causing Lynch syndrome: MLH1, MSH2, MSH6 and PMS2. Further analysis showed that women with mutations in the MSH6 or PMS2 gene were twice as likely to develop breast cancer as women in the general population.
– These studies suggest that MSH6 and PMS2 should be added to the list of genes to be tested if there is a family history of breast cancer. Testing for mutations in these genes would also provide important information for patients’ families. People with mutations should also increase the frequency of colonoscopy, notes the author of the analysis, Dr. Wendy Chung.
Breast cancer is the most common malignant neoplasm in women (about 20% of cases of malignant neoplasms). About 30 percent. cases of breast and ovarian cancers arises as a result of a strong genetic predisposition, which means that the cause of the disease are mutations in genes.