Noteworthy is in our series, over half (18 out of 32, 56.2%) of our patients with MSS tumors had germline mutations, in which 27.8% (5 out of 18) were pathogenic mutations, including a founder mutation (MSH2, c.1457-1460delAATG) in Hong Kong [34]. Here, MSH2 is linked to Marinesco-Sjogren syndrome.