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Table 1 Founder mutations in Russian ovarian cancer cases

From: High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients

 

St.-Petersburg (n = 290)

Krasnodar (n = 64)

BRCA1 5382insC

28 (9.7%)

11 (17.2%)*

BRCA1 4153delA

2 (0.7%)

-

BRCA1 185delAG

3 (1.0%)

1 (1.6%)

BRCA1 300T>G

-

-

BRCA2 6174delT

1 (0.3%)

-

CHEK2 1100delC

2 (0.7%)

-

CHEK2 IVS2+1G>A

-

-

NBS1 657del5

-

1 (1.6%)*

Total carriers

36 (12.4%)

12 (18.8%)*

  1. *1 patient from Krasnodar carried both BRCA1 5382insC and NBS1 657del5 mutations.
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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287