Studies by Marsh et al. | Our study (PTEN-positive patients) | |||||||
---|---|---|---|---|---|---|---|---|
Cowden syndrome and BRRS combined10 | BRRS*9 | Cowden syndrome/BRRS overlap9 | ||||||
Proportion | % | Proportion | % | Proportion | % | Proportion | % | |
Ins/del, insertion/deletion. | ||||||||
*Excluding one patient with a cytogenetically visible deletion on chromosome 10q23.2q24.1 [46,XY,del(10)(q23.2q24.1)] and one patient with an apparently balanced translocation [46,XY,t(10;13)(q23.2;q33)]. | ||||||||
Exon | ||||||||
5 | 10/30 | 33 | 5/16 | 31 | 4/8 | 50 | 8/26 | 31 |
5; core motif | 4/10 | 40 | 1/5 | 20 | 2/4 | 50 | 4/8 | 50 |
6 | 4/30 | 13 | 1/16 | 6 | 0/8 | 0 | 6/26 | 23 |
7 | 6/30 | 20 | 3/16 | 19 | 0/8 | 0 | 1/26 | 4 |
8 | 4/30 | 13 | 2/16 | 13 | 2/8 | 25 | 4/26 | 15 |
5, 6 | 14/30 | 47 | 6/16 | 38 | 4/8 | 50 | 14/26 | 54 |
7, 8 | 10/30 | 33 | 5/16 | 31 | 2/8 | 25 | 5/26 | 19 |
5, 7, 8 | 20/30 | 67 | 10/16 | 63 | 6/8 | 75 | 13/26 | 50 |
Types of mutation | ||||||||
Nonsense | 9/30 | 30 | 3/16 | 19 | 4/8 | 50 | 7/26 | 27 |
Missense | 6/30 | 20 | 6/16 | 38 | 0/8 | 0 | 7/26 | 27 |
Ins/del | 12/30 | 40 | 4/16 | 25 | 2/8 | 25 | 8/26 | 31 |
Splice site | 3/30 | 10 | 3/16 | 19 | 2/8 | 25 | 4/26 | 15 |