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Table 2 Nature of SMAD4 MCR region mutations in 86 colorectal carcinoma patients from Kashmir valley

From: SMAD4 - Molecular gladiator of the TGF-β signaling is trampled upon by mutational insufficiency in colorectal carcinoma of Kashmiri population: an analysis with relation to KRASproto-oncogene

Patient ID

Age/Sex a

Dwelling b

Duke's Stage c

Smoking Status d

Node Status e

Site f

Nature g

Pesticide Exposure

SMAD4 Exon

Mutation h

Amino Acid Change

Affected Codon

Effect i

KRAS Status/Affected Codon

X01

55/M

R

A

NSk

N

C

LS

Y

2

TGT > CGT

Cys > Arg

115

MS

M; 12 Gly > Asp

X06

28/M

R

C

Sk

Y

R

S

Y

8

CGC > AGC

Arg > Ser

361

MS

W

X12

65/F

R

C

Sk

Y

C

S

Y

10

CAG > TAG

Gln > Stop

442

NS

W

X16

62/F

U

C

Sk

Y

C

S

N

8

CGC > CAC

Arg > His

361

MS

W

X17

67/F

R

D

Sk

Y

R

S

Y

8

TTT>TTG

Phe > Leu

362

MS

M; 12 Gly > Asp

X30

44/F

R

D

Sk

Y

C

S

Y

8

TGT > AGT

Cys > Ser

363

MS

M; 12 Gly > Asp

X31

64/M

R

C

Sk

Y

C

FAP

Y

8

GGT > GAT

Gly > Asp

341

MS

W

X43

80/F

U

D

Sk

Y

R

S

Y

10

GCT>GCC

Ala >Ala

456

S

W

X47

60/F

R

B

Sk

N

C

S

Y

11

AAAGGC > AATTGC

Lys > Asn; Gly > Cys

507/8

MS

M; 13 Gly > Cys

X51

58/M

R

C

Sk

Y

C

S

Y

11

GGC > AGC

Gly > Ser

508

MS

M; 12 Gly > Ser

X56

45/M

U

D

Sk

Y

R

S

Y

9

TGG > GGG

Trp > Gly

419

MS

M; 19 Leu > Phe

X57

40/M

R

D

Sk

Y

C

FAP

N

9

AGACAGAG > AGAG

Deletion

415/16 <<

FS

M; 16 Lys > Stop

X65

43/M

R

C

NSk

Y

C

S

Y

8

CGC > CAC

Arg > His

361

MS

M; 19 Leu > Phe

X75

55/F

R

C

NSk

Y

C

S

Y

11

AAA > CAA

Lys > Gln

507

MS

M; 13 Gly > Arg

X85

38/M

U

C

Sk

Y

C

S

N

9

AGA > AAA

Arg > Lys

415

MS

M; 16 Lys > Stop

X86

60/M

R

D

Sk

Y

C

S

Y

10

CGA > TGA

Arg > Stop

445

NS

M; 12 Gly > Ala

  1. a Age/Sex: M = Male, F = Female; b Dwelling: R = Rural, U = Urban; c Duke's stage: A - Tumor confined to the intestinal wall; B - Tumor invading through the intestinal wall; C - With lymph node(s) involvement; D - With distant metastasis; d Smoking Status: Sk: Smokers; NSk: Non Smokers; e Node Status: N = Negative, P = Positive; f Site of tumor: C = Colon, R = Rectum; g Nature of tumor: S: Sporadic; LS: Lynch Syndrome; FAP: Familial Adenomatous Polyposis; h Mutation: Mutated or inserted nucleotide underlined; h Mutation Effect: MS: Missense mutation; NS: Nonsense mutation; S: Silent mutation; FS: Frameshift mutation.
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BMC Cancer

ISSN: 1471-2407

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