Skip to main content
. Author manuscript; available in PMC: 2021 Sep 1.
Published in final edited form as: Clin Cancer Res. 2020 Nov 16;27(5):1429–1437. doi: 10.1158/1078-0432.CCR-20-2892

Figure 2. Distribution of MMR gene mutations in MMR-D SBA.

Figure 2.

Mismatch repair genes (MMR) listed on the x-axis. Percentage of mutations per gene indicated on the y-axis. 50% (5/10) of germline mutations were found in the MLH1 gene. 30% (3/10) of germline mutations found in MSH2, and 20% (2/10) in PMS2. There were no underlying MSH6 or EPCAM germline mutations. Abbreviations: MMR: mismatch repair proficient **One patient with germline MSH2 mutation also found to harbor germline NTHL1 mutation.