Table 2

Germline mutations detected in either of the MMR genes.

Family

ID

Gene

Location

Nucleotide change

Protein effect

Method used


F1376

MLH1

Exon 1

c.116+5G > C

c.116_117ins227nt

Sequencing

F656

MLH1

Exon 1

c.116+5G > C

c.116_117ins227nt

Sequencing

F263

MLH1

Exon 6

deletion of exon 6

p.Glu153[33]fsX8

MLPA/long range PCR

F33

MLH1

Intron 9

c.790+1G > A

skipping of exons 9 and 10

Sequencing

F41

MLH1

Intron 9

c.790+1G > A

skipping of exons 9 and 10

Sequencing

F74

MSH2

Exon 5

c.940C > T

p.Gln314X

Sequencing

F84

MSH2

Exon 7

c.1237C > T

p.Gln413X

Sequencing

F68

MSH2

Exon 7

c.1276G > C

partial skipping of exon 8

Sequencing

F1278

MSH2

Exon 13

c.2089T > C

p.Cys697Arg

Sequencing

F39

MSH2

Exon 13

c.2131C > T

p.Arg711X

Sequencing

1SRB

MSH2

Exon 13

c.2132G > C

p.Arg711Pro

Sequencing

F150

MSH6

Exon 5

c.3202 C > T

p.Arg1068X

Sequencing

F111

MSH2

Exon 12

possible duplication of exon 12

?

MLPA


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

Open Data