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Table 2 APC mutation spectrum in Hispanic patients

From: Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines

   

APC a

Study

Population

n

Exons

Mutation

Protein Change

Cruz-Correa et al. 2013 [43]

Puerto Rico

31

15

c.3183_3187delACAAA

p.Gln1062*

  

15

c.4612_4613delGA

p.Glu1538Ilefs*5

  

15

c.3149delC

p.Ala1050Glufs*6

  

15

c.3927_3931delAAAGA

p.Glu1309Aspfs*4

  

14

c.1873C > T

p.Gln625*

  

15

c.4012C > T

p.Gln1338*

Tardin-Torrezan G et al. 2013 [40]

Brazil

23

 

del 5q21.3-q22.3

 
  

8

c.856_859dupCATG

p.Glu287Alafs*2

  

4

c.447dupC

p.Lys150Glnfs*18

  

15

c.4097dupC

p.Gln1367Serfs*8

  

8

c.904C > T

p.Arg302*

  

15

c.4348C > T

p.Arg1450*

  

15

c.3880-3881delCA

p.Gln1294Glyfs*6

  

8

c.847C > T

p.Arg283*

  

15

c.4099C > T

p.Gln1367*

  

15

c.3050-3053delATGA

p.Asn1017Metfs*4

  

15

c.3927-3931delAAAGA

p.Glu1309Aspfs*4

  

15

c.4393-4394delAG

p.Ser1465Trpfs*3

Zeichner S et al. 2012 [41]

Hispanic

1

15

c.3927_3931delAAAGA

p.Glu1309Aspfs*4

Ricker C et al. 2010 [42]

Mexico, Guatemala, Honduras

9

15

c.3184C > T

p.Gln1062*

  

15

c.3709delCA (MX)

p.Gln1237Glufs*2

   

g.89926-?_141606 + ?del (GU)

 
  

15

c.3927_3931delAAAGA (MX)

p.Glu1309Aspfs*4

  

15

c.3803_3815del1 (HO)

p.Pro1268Glufs*16

  

15

c.3183_3187delACAAA (MX)

p.Gln1062*

InSIGHT [53]

Argentina

 

15

c.3920 T > A (missense)

p.Ile1307Lys

Portugal

 

15

c.4687dup

p.Leu1563Profs*4

  

15

c.5826_5829delCAGA

p.Asp1942Glufs*27

Spain

 

5

c.637C > T

p.Arg213*

  

6

c.707delA

p.Gln236Argfs*57

  

7

c.730_731delAG

p.Arg244Valfs*7

  

7

c.802G > T

p.Glu268*

  

8

c.858delT

p.His286Glnfs*7

  

8

c.904C > T

p.Arg302*

  

11

c.1412delG

p.Gly471Aspfs*27

  

13

c.1682dupA

p.Thr562Aspfs*19

  

13

c.1690C > T

p.Arg564*

  

14

c.1787C > G

p.Ser596*

  

14

c.1946_1947insG

p.Asn649Lysfs*2

  

15A

c.1993_1994delTT

p.Leu665Ilefs*9

  

15

c.2310delA

p.Glu771Lysfs*6

  

15B

c.2413C > T

p.Arg805*

  

15C

c.2496delC

p.Ser833Alafs*9

  

15D

c.2838_2839delAT

p.Cys947Phefs*15

  

15D

c.2977A > T

p.Lys993*

  

15D

c.2980_2990del11

p.Phe994Trpfs*10

  

15E

c.3224dupA

p.Tyr1075*

  

15E

c.3251_3252dupAT

p.Lys1085Ilefs*42

  

15G

c.3921_3924delAAAA

p.Ile1307Metfs*13

  

15G

c.3927_3931delAAAGA

p.Glu1309Aspfs*4

  

15

c.4260_4261delCA

p.Ser1421*

  1. aMissense mutations pathogenicity status was verified as pathogenic or likely pathogenic by the following databases: ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) and Invitae (http://clinvitae.invitae.com/)