Potential Effects of Thousands of Mutations in BRCA1 Gene Analyzed by Researchers

Potential Effects of Thousands of Mutations in BRCA1 Gene Analyzed by Researchers
Researchers have analyzed the effects of nearly 4,000 mutations deliberately induced into the BRCA1 gene, one of the genes that increases the likelihood of developing breast cancer and ovarian cancer when mutated. Their findings may help guide the interpretation of genetic testing results regarding this gene and allow more informed and better clinical decisions. The study, “Accurate classification of BRCA1 variants with saturation genome editing,” was published in the journal Nature. BRCA1 is a key tumor suppressor protein, essential for one of the main DNA-repair pathways. Certain mutations (also called variants or changes) in the BRCA1 gene can cause an increase in unrepaired DNA, increasing the chance of cells developing additional genetic alterations that can lead to the development of cancer. Women with hereditary BRCA1 mutations have an increased risk of developing breast and ovarian cancers at a younger age than women who don't have these variants, and to have more more aggressive types of breast cancer. So the early detection of harmful BRCA1 mutations has great relevance for future clinical decisions. However, most currently known BRCA1 mutations are classified as variants of uncertain significance, meaning their implications in BRCA1 function and cancer risk are still unknown. (While there is no report linking these mutations with cancer, it does not mean they cannot cause it.) Therefore, there is a chance that women who carry harmful
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