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Table 1 Mutations detected at next-generation and Sanger sequencing

From: Next-generation sequencing for genetic testing of familial colorectal cancer syndromes

Sample

APC

MUTYH

MLH1

MSH2

MSH6

FAP1

c.3433G > T p.E1145*

    

FAP2

     

FAP3

c.2805C > A p.Y935*

    

FAP4

c.834 + 2 T > C

    

FAP5

    

c.663A > C p.E221Da

FAP6

     

FAP7

c.3920 T > A p.I1307K

c.536A > G p.Y179C

   

FAP8

c.694C > T p.R232*

    

HNPCC1

  

c.677G > A p.R226Q

 

c.998C > T p.T333Ia

HNPCC2

  

c.432A > G p.T82A

  

HNPCC3

  

c.1731G > A p.S577S

  

HNPCC4

   

c.1386 + 1G > T

 

HNPCC5

   

c.1216C > T p.R406*

 

HNPCC6

   

c.119delG p.G40Afs*24

 

HNPCC7

   

c.840_841delAT p.L280Ffs*3 b

 

HNPCC8

   

c.1046C > G p.P349R

 
  1. a variants with uncertain pathogenic potential
  2. b variant detected only by Sanger sequencing