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% |