Table 2 Comparison of founder germline pathogenic variants frequencies for the variants studied between cases with tumors (CRC and CO-p series) and cases without tumors from our series (CO-c) and from the literature, limited to the Ashkenazi Jewish population.

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

 

Positive Cases (CPC+CO-p)

Negative Cases

 
 

APC Zauber - 2008 Valle - 2023 (18,24)

BLM Zauber – 2008 (18)

GREM1 Laitman – 2015 (20)

MSH2 Foulkes - 2002 Zauber – 2008 (10,18)

MSH6del Raskin – 2011 (12)

MSH6dup Raskin – 2011 (12)

 

(n=600)

(n=13238)

(n=293)

(n=312)

(n=859)

(n=3475)

(n=3475)

(p-value)

Gene

Variant

Frequency

 

APC

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

86

14,33%

939

7,09%

          

(< 0.00001)

BLM

c.2207_2212delinsTAGATTC, p.(Tyr736Leufs*5)

5

0,83%

  

0

0,00%

        

(0.1785)

GREM

40kb upstream duplication

2

0,33%

    

0

0,00%

      

(0.5494)

MSH2

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

4

0,67%

      

1

0,12%

    

(0.0284)

MSH6

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

1

0,17%

        

1

0,03%

  

(0.2728)

MSH6

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

0

0,00%

          

1

0,03%

(1)

  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.
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