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Table 2 Results of molecular screening on tumor specimen and mutational analysis

From: Early-onset colorectal cancer patients without family history are “at very low risk” for lynch syndrome

Patients Immunohistochemistry (lack of expression) MSI status Germline mutational analysis
Group A 1 PMS2 1 MSI-H No deleterious mutation§
No family history 1 PMS2 1 MSI-H No deleterious mutation*
3 MLH1, PMS2 3 MSS No deleterious mutation
1 normal 1 MSI-H No deleterious mutation*
Group B with Am.II Criteria 8 MLH1 8 MSI-H 7 MLH1 deleterious mutation
   1 missense VUS**
7 MSH2 7 MSI-H 7 MSH2 deleterious mutation
1 MSH2*** 1 MSI-H 1 MLH1 deleterious mutation
1 PMS2 1 MSI-H 1 MLH1 deleterious mutation
2 Normal 2 MSI-H 2 MSH2 deleterious mutation
1 NE**** 1 MSI-H 1 MSH2 deleterious mutation
1 MSH2, MSH6 1 MSI-H No deleterious mutation
4 MLH1 4 MSS No deleterious mutation
1 MLH1, PMS2 1 MSS No deleterious mutation
1 MSH2, MSH6 1 MSS No deleterious mutation
Group C 7 normal 7 MSS  
Family history without Amsterdam II Criteria
  1. §MLH1 promoter hypermethylation.
  2. *polymorphism MSH6 gene (c.116G > A) associated with slight increased risk of CRC in males.
  3. **VUS: variant of uncertain clinical significance.
  4. ***confirmed after repeating the test.
  5. ****NE: not evaluable.