The ascending-colon tumors carry the exon-5 frameshift mutation in sampled patients, transverse tumors in , and descending and sigmoid tumors in each. Grouping these gives proximal tumors versus distal tumors with the repeat alteration, suggesting proximal enrichment of this molecular subtype. The matched samples show a one-allele alteration in the adjacent tissue of patients 1 and 7, whereas patients 5 and 9 have tumor-associated alterations without a detected alteration in their matched normal sample.
This is a small case series, and all ten patients already have tumors. It cannot determine whether a region has a higher absolute risk of transformation, nor establish defective DNA mismatch repair from one altered repeat alone. Larger location-matched series, population denominators, testing of additional microsatellites and direct assessment of DNA mismatch repair components are needed to support those stronger claims.