Frequent BRCA2 somatic mutations in colorectal cancer patients with mircrosatellite instability (MSI)


Safoora Deihimi, Avital Lev, Elena Shagisultanova, Joanne Xiu, Michael Slifker, Qifang Xu, Eric Ross, Roland Dunbrack, Wafik S. El-Deiry

Microsatellite instability (MSI) is a hallmark of mismatch repair (MMR)-deficient cancers including colorectal cancer (CRC). MSI represents 15% of CRCs as a result of either epigenetic silencing of MLH1 or mutations in one of the MMR
genes: MLH1, MSH2, MSH6 and PMS2. MSI tumors have a better prognosis than microsatellite stable (MSS) tumors while responding differently to treatments, including relative resistance to 5-FU and high clinical benefit from
immune checkpoint therapy. Deficient MMR can lead to deficient DNA doublestrand-break repair

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