From Special & Exclusive Desk : Eastern Chronicle 24×7, The 8th January, 2025.
Scientists has characterized the role of thousands of mutations in the BRCA2 cancer gene, finding that may help reassure worried Patients about their cancer risk or guide Doctors towards better, more targeted treatments , according to a Study. Which published Wednesday.
Harmful mutations in BRCA2 – a gene responsible for repairing damaged DNA – significantly increase the risk of breast, ovarian, prostate & pancreatic cancers.
About 45% of women who inherit a harmful BRCA2 mutations will develop breast cancer by the age of 70. But not all mutations in the general are harmful , and many are so rare that Doctors don’t know weather they pose a risk or not.
A new findings, published in the journal Nature, may provide answers or a measure of relief for many people left wondering weather their mutation could prove deadly or warrant preemptive intervention, such as mastectomy.
For their study, the researchers focused on thousands of so called “variants of uncertain significants ” or VUS, which show up the genetic tests but have yet to be characterized, leaving Patients & Doctors uncertain about their Risk and what to do next.
Because the BRCA2 gene is so large, Researchers focussed on all possible variants within a key part of the gene responsible for recognizing and binding to DNA. In all, they examined 7,000 variants.
In addition to giving patients a better idea of their cancer risk, doctors may be able to use of findings to determine weather some patients with BRCA2 – driven cancers might benefit from targeted therapies such as PARP inhibitors , which work well in BRCA2 mutation carriers.
