Table 2 Types and locations of mutation in MED12 detected in fibroadenomas and phyllodes tumours.

Missense

c.103 G > A

p. E35K

0

1

c.107 T > G

p. L36P

0

1

c.128 A > C

p. Q43P

2*

0

c.130 G > A

p. G44S

4

6*

c.130 G > C

p. G44R

1

0

c.130 G > T

p. G44C

1

1

c.131 G > A

p. G44D

2

2

c.131 G > C

p. G44A

0

2

c.131 G > T

p. G44V

1

4

Deletion

c.112–144del33

p. A38_Q48del

1

0

c.113_149del37

p. A38Vfs*47

0

2*

c.114–155del42

p. L39_S52del

0

1

c.117–134del18

p. L39_G44del

1

0

c.118 A > C, c.123–158del36

p. N40H, pK42_G53del

1

0

c.122–154del33

p. V41_V51del

1

0

c.122–160del39

p. V41_G53del

1

0

c.125–154del30

p. K42_V51del

1

0

c.141–167del27

p. Q48_H56del

1

0

Indel

c.100–11_136del48insC

Loss of splice acceptor

0

1

c.137–161del25insC

p. N46_D54 > T

1

0

Total

19

21