Page 40 - PCC08
P. 40
40
Selfish clone in the testis of 64 yo individual
Non-synonymous & stop-gain mutations not present in constitutional DNA
292
11
0 328
FGFR2 WT
FGFR3 c.742C>T (p.R248C)
N
FGFR3 p.R248C
Testis from 75 yo individual
Page 34 of 102
Germline
Thanatophoric dysplasia type I
Somatic
COSMIC v70
Bladder cancer Skin (SK)
FGFR3 WT
PCRs on non-WGA DNA
N
0
FGFR2 p.Y340C
Distinct clones can occur in close proximity
N
FGFR3 p.R248C
386
FGFR2 c.1019A>G (p.Y340C) Pfeiffer syndrome type II
N
FGFR3 p.R248C
Khonsari et al AJMG (2012)
Maher et al, PNAS 2016
S20_MAGEA4
Maher et al, PNAS 2016
