Researchers Jay Shendure and Lea Starita have analyzed nearly 4,000 variants associated with breast and ovarian cancers. To do this they used the information obtained from the genetic tests of patients who died of cancer. The results will improve the early detection of tumors and will help to develop new treatments.
The study focused on variants of BRCA genes, notoriously related to ovarian and breast cancer. According to doctors, some variants increase the risk and danger of tumors. Others would be harmless. Most, however, have unknown consequences and leave patients in doubt. For this reason, the researchers examined the effects of these latter variants to understand their role.
There are about 2500 variants of the BRCA1 gene whose consequences we do not know. The two geneticists then analyzed the tumor cells of some dead patients. The patients all showed abnormal functioning of the BRCA1 protein responsible for DNA repair. They used the CRISPRCas9 genetic editing technique to modify the gene and analyzed the consequences.
The genetic screening carried out have covered every possible variation within the gene. For each variation, the researchers analyzed cell behavior and their survival. In cases where clinical data were available regarding the variation, they combined them with the results of their tests.
Ideally, the collected data should be combined with other genetic information. Not always, however, there is enough data about a certain genetic variant. In any case, the study has clarified a large number of previously dubious variants.