Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants
Discovery of the genetic basis for the hereditary breast and ovarian cancer syndrome has led to great advances in treatment options together with possible risk reduction intervention. Mutation of the BRCA1/2 gene causes defective DNA repair, which increases the risk of these two cancers.
Now with the availability of genetic profiling for many cancer patients it is possible to determine the extent of the BRCA1/2 mutation for patients who have other cancers. In a retrospective review of more than 63000 cancer patients compared to more than 37000 patients without cancer the impact of the BRCA mutation on many different cancers can be measured.
It was already known that having the BRCA mutation increases the risk of developing cancer of the breast, ovary, prostate and pancreas. Data from this survey show additional increased likelihood of stomach, biliary and oesophageal cancer. This information needs to be included in the genetic counselling of patients found to be BRCA positive.
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