Wheat from the chaff

A new study conducted by the international ENIGMA consortium analyzed more than 20,000 variants of BRCA1 and BRCA2 oncogenes, and found that 94 of them increase the risk of ovarian, breast, prostate and pancreatic cancer, and 447 were identified as harmless. These variants have already been discovered before, but it was not known whether they increase the risk of cancer or have no effect.

The study involved more than 200 scientists and doctors from 114 institutions around the world. Studies and clinical data of a large number of BRCA1 and BRCA2 genetic variants of unknown clinical significance were compared. The information was received from patients from 15 countries. To date, this is the single largest study of this type.

The findings will help identify those at risk and choose the best treatment for people who carry dangerous variants of BRCA1 or BRCA2. Doctors will be able to advise patients on the necessary frequency of early screening, such as, for example, ultrasound scanning of the mammary glands; preventive measures (surgery or taking medications that reduce the risk); and even personalized treatment with specific medications (PARP inhibitors). The information can also be used to decide whether to check on close relatives in order to prevent or detect the disease at an early stage.

Article by Parsons et al. Large scale multifactorial similarity quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification is published in the journal Human Mutation.

Elena Panasyuk, portal "Eternal youth" http://vechnayamolodost.ru / based on the materials of QIMR Berghofer Medical Research Institute: More genetic evidence of what puts people at risk of breast and other cancers.