Table 5

Polymorphisms in either of the major MMR genes.

Gene

Location

Nucleotide change

Protein effect

Families with the variant


MLH1

Intron 6

c.545+72T > A

N.A

2

Exon 8

c.655A > G

p.Ile219Val

12*

Intron 14

c.1668-19A > G

N.A

6*

MSH2

Intron 1

c.211+8G > C

N.A

2

Intron 1

c.211+9C > G

N.A

4

Intron 3

c.646-46delC

N.A

1

Exon 6

c.965G > A

p.Gly322Asp

6

Intron 10

c.1661+12G > A

N.A

14*

Intron 12

c.2006-6T > C

N.A

9*

MSH6

Intron 1

c.261-36 A > G

N.A.

2

Exon 1

c.116 G > A

p.Gly39Glu

2

Exon 1

c.186 C > A

p. Arg62Arg

2*

Exon 2

c.276 A > G

p.Pro92Pro

4*

Exon 3

c.540 T > C

p.Asp180Asp

4*

Intron 4

c.3173-101 C > G

N.A.

1

Exon 5

c.3438+14 A > T

N.A.

8*

Intron 7

c.3646+29_3646+32delCTAT

N.A.

3*

Intron 8

c.3802-40 C > G

N.A.

8*

Exon 8

c.3678 A > G

p.Ala1226Ala

1


Thodi et al. BMC Cancer 2010 10:544   doi:10.1186/1471-2407-10-544

Open Data