Table 3 Comparison of studied germline pathogenic variants frequencies between patients with only polyps and patients with both polyps and cancer from the series we studied.

From: Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy

  

CPC series

 

CO-p series

 

CPC+CO-p series

 
  

Polyps Only

Cancer & Polyps

 

Polyps Only

Cancer & Polyps

 

Polyps Only

Cancer & Polyps

 
  

357

77

(p value)

136

26

(p value)

493

103

(p-value)

Gene

Variant

Frequency

 

APC

c.3920T>A, p.(Ile1307Lys)

41

11,48%

13

16,88%

(0.2526)

25

18,38%

5

19,23%

NA

66

13,39%

18

17,48%

(0.2779)

BLM

c.2207_2212deinsTAGATTC, p.(Tyr736Leufs*5)

4

1,12%

0

0,00%

NA

1

0,74%

0

0,00%

NA

5

1,01%

0

0,00%

(0.59)

GREM

40kb upstream duplication

2

0,56%

0

0,00%

NA

0

0,00%

0

0,00%

NA

2

0,41%

0

0,00%

NA

MSH2

c.1906G>C, p.(Ala636Pro)

0

0,00%

3

3,90%

(0.0059)

1

0,74%

0

0,00%

NA

1

0,20%

3

2,91%

(0.0176)

MSH6

c.3956_3959delAAGC, p.(Ala1320Glufs*6)

0

0,00%

0

0,00%

NA

0

0,00%

1

3,85%

(0.1667)

0

0,00%

1

0,97%

(0.1728)

MSH6

c.3984_3987dupGTCA, p.(Leu1330Valfs*12)

0

0,00%

0

0,00%

NA

0

0,00%

0

0,00%

NA

0

0,00%

0

0,00%

NA

  1. CPC Colorectal and Polyps Cancer series, CO-p patient from Colonoscopy series, CO-c control from Colonoscopy series. Statistical test used is Fisher’s exact test. NA - not applicable.
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