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Table 4 Studies on the ATM IVS10-6T→G variant in breast cancer

From: Frequency of the ATM IVS10-6T→G variant in Australian multiple-case breast cancer families

Reference (year) Location Frequency of cases with mutation Frequency of controls with mutation Comments
[22] (2000) The Netherlands 3/82 (3.7%) 2/268 (0.7%) Cases aged less than 45 years
[29] (2001) Germany 7/1000 (0.7%) 3/500 (0.6%) Unselected cases
[32] (2002) USA 0/43 1/43 (2.3%) Unselected cases
[19] (2002) Australia and New Zealand 2/76 (2.6%)
4/144 (2.8%)a
0/68 Strong FHx, non-BRCA1/2, male breast cancer excluded
[20] (2002) Sweden and Czech Republic 2/768 (0.3%) 5/557 (0.2%) Unselected cases and FHx (non-BRCA1/2)
[30] (2003) The Netherlands 3/193 (1.6%)
3/233 (1.3%)
2/268 (0.7%) FHx, non-BRCA1/2
Cases aged less than 45 years
[23] (2003) USA and Denmark 1/511 (0.2%) 8/638 (1.3%) Bilateral versus unilateral breast cancer (control group) unselected for FHx
[21] (2004) The Netherlands and Austria 8/961 (0.8%)
1/211 (0.5%)
4/543 (0.7%) Non-BRCA1/2 families
BRCA1/2 families
This study Australia 7/495 (1.4%) 6/725 (0.8%) [28]  
  1. a2 of 76 non-BRCA1/BRCA2 families reported. A manuscript note added in proof reported an additional 2 families of a further 68 non-BRCA1/BRCA2 families. FHx, family history