Resources & Documentation

In a pioneering study, Dr. Mohammad Sina and collaborators identified a novel frameshift pathogenic variant (MSH2 c.705dupA) in a multi-generational Iranian family meeting criteria for both Lynch syndrome and hereditary diffuse gastric cancer.

This variant, predicted to cause premature truncation of the MSH2 protein, was confirmed through segregation analysis across multiple generations.

What made this case extraordinary was the scale and success of cascade testing: out of 30 at-risk relatives tested, 12 carriers of the familial variant were identified — representing a 20-fold increase in testing uptake compared with typical regional studies.

This achievement reflects years of groundwork in community-based genetic counseling, sample coordination, and digital family-tracking workflows that later inspired the OmicsCare platform.