Researchers link for the first time mutations in the FANCI gene to the risk of developing ovarian cancer
Montreal - Ovarian cancer affects approximately 3000 women per year in Canada. Although most cases are sporadic, there are hereditary forms of ovarian cancer that are largely attributed to mutations in the BRCA1 and BRCA2 genes, which are also involved in breast cancer. However, some families with no known cancer predisposing genes develop multiple cases of ovarian cancer, suggesting that mutations in unknown genes remain to be discovered.
A single genetic test can identify the presence and cause of mismatch repair deficiency
Researchers have developed a new integrated genetic/epigenetic DNA-sequencing protocol known as MultiMMR that can identify the presence and cause of mismatch repair (MMR) deficiency in a single test from a small sample of DNA in colon, endometrial, and other cancers. This alternative to complex, multi-step testing workflows can also determine causes of MMR deficiency often missed by current clinical tests. Their results are presented in the
Journal of Molecular Diagnostics, published by Elsevier.
MMR genes monitor and repair errors that can occur in normal cell replication and recombination. In some inherited and acquired cancers, one or more of the MMR genes are deactivated. The impact of MultiMMR is broad. Tumors with MMR deficiency respond well to new cancer immunotherapies, explains lead investigator Trevor J. Pugh, PhD, Department of Medical Biophysics, University of Toronto; Princess M
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IMAGE: Researchers have developed a new integrated genetic/epigenetic DNA-sequencing protocol known as MultiMMR that can identify the presence and cause of mismatch repair (MMR) deficiency in a single test from a. view more
Credit: Trevor J. Pugh
Philadelphia, January 21, 2021 - Researchers have developed a new integrated genetic/epigenetic DNA-sequencing protocol known as MultiMMR that can identify the presence and cause of mismatch repair (MMR) deficiency in a single test from a small sample of DNA in colon, endometrial, and other cancers. This alternative to complex, multi-step testing workflows can also determine causes of MMR deficiency often missed by current clinical tests. Their results are presented in the