Abnormal tumor screening but no germline mutation

Publication

2 Somatic Mutations

1 Somatic Mutation + LOH

Somatic Mosaicism

Other

Sourrouille I, Fam Cancer 2013

3/18 (16.7%)

LOH not studied but 5/18 patients had 1 somatic mutation (27.8%)

1 /18 (5.5%)

1/18 missed germline mutation

Mesenkamp AR, Vogelaar IP, Gastroenterology 2014

5/25 (20%)

8/25 (32%)

Not assessed (Sanger sequencing)

Geurts-Giele WRR, J Pathol 2014

5/40 (13%)

16/40 (40%)

0/40 (0%) Not mentioned but probably assessed (Next-gen)

2 probable germline mutations seen in T&N

Haraldsdottir S, Gastroenterology 2014 in press

12/32 (37.5%)

9/32 (28.1%)

0/32 (0%)

6/32 had errors in tumor screening

Total

45-68%

0-5%