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Table 3 Prevalence of identified variants in patients with pancreatic cancer and control subjects

From: Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study

 

PanC (No. 47)

CS (No. 51)

Pathogenic-likely pathogenic

 ATM*

1 (2.1%)

0

 BRCA2*

4 (8.5%)

0

 CFTR*

5 (10.6%)

1 (2.0%)

 CHEK2

1 (2.1%)

0

 MUTYH

0

1 (2.0%)

 No. of variants

10

2

 No. of individuals with variant(s)

8

2

Pathogenic-likely pathogenic/VUS

 ATM

0

1 (2.0%)

 CFTR*

3 (6.4%)

5 (9.8%)

 No. of variants

3

5

 No. of individuals with variant(s)

3

6

VUS

 APC*

1 (2.1%)

4 (7.8%)

 ATM*

2 (4.3%)

5 (9.8%)

 BRCA1*

0

2 (3.9%)

 CDKN2A

1 (2.1%)

0

 CFTR*

3 (6.4%)

5 (9.8%)

 CHEK2*

1 (2.1%)

1 (2.0%)

 ERBB2

1 (2.1%)

0

 FANCC*

0

2 (3.9%)

 FANCG

0

1 (2.0%)

 MLH1

0

1 (2.0%)

 MSH3

1 (2.1%)

0

 MSH6

1 (2.1%)

0

 MUTYH*

1 (2.1%)

3 (5.9%)

 PMS2*

0

1 (2.0%)

 POLD1*

2 (4.3%)

0

 POLE

1 (2.1%)

2 (3.9%)

 TP53

1 (2.1%)

0

 No. of variants

15

31

 No. of individuals with variant(s)

15

25

Undefined

 ERBB2

0

3 (5.9%)

 MSH3

0

1 (2.1%)

 ATM

0

1 (2.1%)

 CFTR

0

1 (2.1%)

 FANCC

1 (2.1%)

0

 CHEK2

1 (2.1%)

0

 POLD1

1 (2.1%)

0

 RNF43

0

1 (2.1%)

 No. of variants

3

7

 No. of individuals with variant(s)

3

7

  1. *Genes with mutations found in more than one subject, in subjects with more than one variant in different genes, or in subjects with different variants in the same genes. PanC: pancreatic cancer; CS: control subjects
  2. Bold values indicate the subclasses of variants identified in the study