Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies
Table 2
New changes in cDNA of TCO candidate genes on 19p13.2.
PCR product
Change in cDNA
Type of aa change
Het frequency in TCO patients (%)
Het frequency in controls (%)
TIMM44x4
G344A C925A
silent P308Q
12.5 12.5
na 0 0 na na
TIMM44x9
G1274A G509A
silent silent
12.5 12.5
na na 22.5 3.0
TIMM44x13
T971C G868T
silent UTR
12.5 12.5 8.0
na na na na
ELAVL1x3
C591A G1111C
silent R219P
42.9 13.0 25.0 14.2
na na na na
ELAVL1x5
(CTTCCACTTCA
UTR UTR
12.5 12.5
na na na na
CCL25x5
AC) bp1267-1280
T289M
37.5 50.0 37.5 50.0
na na 7.3 na na
LASS1x3
C182T A866T
K1266N
37.5 37.5
MARCH2x5
A3798C C4996T
silent Y1897D
37.5 12.5 37.5 37.5
MARCH2x5
T5692G G9569C
S3189T
12.5 50.0
GRIM19x1
A21814G T21858A
I7271V silent
12.5
EDG5x2
G26790A C25572T
silent silent
MUC16x1
T25638G A27791C
D8546E
MUC16x1
C31905T G31721A
N9263T
MUC16x1
G36955A G39400A
silent R10573H
MUC16x2
C41705T
E12318L
MUC16x3
V13133M
MUC163x
P13901L
MUC16x3
MUC16x3
MUC16x3
MUC16x3
MUC16x5
MUC16x5
MUC16x15
MUC16x39
MUC16x63
na= not available. The changes cosegregating are reported. Only for TIMM44 missense change, the variant was not found in a large group of controls. The other genes screened so far but with no new changes identified are NDUFA7, PPAN, FBLX12, ICAM1, ICAM4, LASS1, LASS4, SMARCA4, DNM2, and ANGPL4; RAB11B; ADAMTS10; PIN1; UBL5; and KEAP1.
