Table 3 Somatic mutations.

From: Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing

IDP†

IDS‡

HIST§

GENE

CHANGE

TRIPLET

CHANGE (HGVS)

% ALT

MET††

83

AD5

LDTA

APC

C > C/T

GCG > GTG

c.4348C > T p.(Arg1450*)

5.7

TST

APC

C > C/A

TCA > TAA

c.4381G > T p.(Glu1461*)

6.6

TST

CTNNB1

C > C/T

TCT > TTT

c.134C > T p.(Ser45Phe)

12.9

TST

AD4

LDTA

ARID1A

C > C/T

ACA > ATA

c.514C > T p.(Gln172*)

26

MIP

APC

C > C/T

GCG > GTG

c.2626C > T p.(Arg876*)

8

MIP/TST

APC

AAG > AAG/A

 

c.3924_3925delAG p.(Glu1309Lysfs*5)

8.8

MIP/TST

APC

GA > GA/G

 

c.3926delA p.(Lys1310Argfs*11)

21

MIP/TST

AC1

ACH0

APC

C > C/A

TCT > TAT

c.3916G > T p.(Glu1306*)

32

MIP/TST

RNF43

C > C/T

CCA > CTA

c.745C > T p.(Gln249*)

12

MIP

NRAS

C > C/T

ACC > ATC

c.38G > A p.(Gly13Asp)

4.5

TST

AD1

LDTA

APC

C > C/T

GCG > GTG

c.1660C > T p.(Arg554*)

15

MIP

APC

C > C/A

TCA > TAA

c.4189G > T p.(Glu1397*)

13

MIP

AD3

LDTA

APC

C > C/A

TCT > TAT

c.3916G > T p.(Glu1306*)

34.8

TST

35

AD1

LDTA

APC

CC > CC/TA

 

c.4479_4480delGGinsAT p.(Glu1494*)

18.3

TST

LDTA

MAP2K1

C > C/A

GCT > GAT

c.171G > T p.(Lys57Asn)

16.8

TST

LDTA

TP53

C > C/A

TCT > TAT

c.859G > T p.(Glu287*)

19.1

TST

AD2

LDTA

APC

C > C/A

GCA > GAA

c.4230C > A p.(Cys1410*)

7.6

TST

LDTA

APC

C > C/T

GCG > GTG

c.2626C > T p.(Arg876*)

6.8

TST

LDTA

KRAS

C > C/A

CCA > CAA

c.37G > T p.(Gly13Cys)

6.7

TST

37

AD1

LDTA

APC

C > C/−

 

c.3955delC p.(Pro1319Leufs*2)

15.7

TST

LDTA

TP53

C > C/T

GCG > GTG

c.524G > A p.(Arg175His)

11.5

TST

38

AD1

TA LDTA LD

MAP2K1

C > C/A

GCT > GAT

c.171G > T p.(Lys57Asn)

4.6

TST

AD2

HDTVA

APC

T > T/−

 

c.4233delT p.(Ser1411Argfs*4)

37.1

TST

61

AD1

LDTA

CDH1

−>−/A

 

c.1885_1886insA p.(Leu630Thrfs*33)

7.2

TST

LDTA

CTNNB1

T > T/C

GTA > GCA

c.121A > G p.(Thr41Ala)

12.1

TST

LDTA

NRAS

C > C/T

GCA > GTA

c.360G > A p.(Leu120 = )

50.6

TST

99

AD1

LDTA

APC

C > C/T

GCG > GGG

c.4348C > T p.(Arg1450*)

35.7

TST

LDTA

FBXW7

C > C/T

TCG > TTG

c.1436G > A p.(Arg479Gln)

35.5

TST

LDTA

KRAS

C > C/T

CCA > CTA

c.34G > A p.(Gly12Ser)

45.6

TST

89

AD1

LDTA

KRAS

C > C/A

CCA > ACA

c.34C > A p.(Gly12Cis)

>1.5

TH-K

AD2

LDTA

KRAS

C > C/A

CCA > ACA

c.34C > A p.(Gly12Cis)

>1.5

TH-K

  1. Somatic mutations detected in adenomas analyzed. †IDP = Pacient ID; ‡IDS = Sample ID: AD = adenoma AC = adenocarcinoma; §HIST = Histology: LDTA = Low grade dysplastic tubular adenoma, ACH0 = Adenocarcinoma arising from adenoma Haggitt 0, HDTVA = High grade dysplastic tubulovillous adenoma; % ALT = percentage of altered allele; ††MET = Method: TST = TruSight Tumor 26 panel (Illumina); MIP = single molecule Molecular Inversion Probe; TH-K = Therascreen®KRAS. Reference sequences: APC: NM_000038, NP_000029; CTNNB1: NM_001098210, NP_001091680; ARID1A: NM_006015, NP_006006; RNF43: NM_017763, NP_060233; NRAS: NM_002524, NP_002515; MAP2K1: NM_002755, NP_002746; TP53: NM_000546, NP_000537; KRAS: NM_033360, NP_203524; CDH1: NM_004360, NP_004351; FBXW7: NM_033632, NP_361014.
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