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Table 3 Characteristics of affected individuals in PJS families with cancer history

From: The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome

Family

Individual

Sex

Ageb

Cause of death

Mutation

Prediction

P53 activity

MP

D

F

C

P

PolyPhen

SIFT

PJS03

I:1

M

NR

NR

NR

60

60

Colon cancer

c.250A > T/

p.K84a

NA

NA

Decreased

II:1a

F

5

31

27

27

33

Colon cancer

II:2

M

6

19

26

–

28

–

PJS06

II:1

F

NR

NR

NR

NR

40

Lung cancer

c.843insC/

p.P281Pfsa4

NA

NA

Decreased

II:2

M

NR

NR

NR

NR

39

Lymphoma

II:3a

M

3

21

21

39

45

Colon cancer

II:4

F

3

20

20

–

39

–

III:1

F

3

11

18

–

30

–

PJS09

II:1

F

NR

55

NR

65

65

Stomach cancer

c.911G > C/

p.R304P

Probable damaging

Tolerated

Normal

III:1a

M

7

30

30

–

51

–

PJS11

Indexa

M

6

37

37

47

47

Colon cancer

c.962_963delCC/

p.P321Hfsa38

NA

NA

Normal

PJS12

II:1

M

NR

43

43

48

52

Colon cancer

c.1062C > G/

p.F354 L

Benign

Tolerated

Normal

III:1

F

4

15

–

–

16

Bowel obstruction

III:2a

F

4

12

12

–

29

–

  1. a Probands. b MP, melanin pigmentation; D, diagnosis; F, first polypectomy or laparotomy; C, canceration; P, present. If a patient is dead, the present age with a underline refers to the age of death. M = male, F = female. NA = not applicable. NR = not reported