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Table 4 Loss of heterozygosity in breast tumors from carriers of putative breast cancer-associated ATM variants

From: Rare variants in the ATMgene and risk of breast cancer

Nucleotide change Effect Site Identifier LOH
c.170G > A Protein truncating Ontario 43115 No LOH
c.442_446 delGACAT Protein truncating kConFab 62558 LOH of variant
c.1924G > T Protein truncating Ontario 91015 No LOH
c.3802delG Protein truncating kConFab 81253 LOH of variant
c.3802delG Protein truncating Ontario 43147 No LOH
c.5623C > T Protein truncating kConFab 31015 LOH of variant
c.7271T > G Align GVGD C65 kConFab 40012 No LOH
c.7271T > G Align GVGD C65 kConFab 40032 LOH of wild type
c.7271T > G Align GVGD C65 kConFab 40034 No LOH
c.7271T > G Align GVGD C65 kConFab 70246 No LOH
c.7271T > G Align GVGD C65 kConFab 60567 No LOH
c.7271T > G Align GVGD C65 kConFab 20723 No LOH
c.7271T > G Align GVGD C65 kConFab 51297 50% LOH of variant
c.7271T > G Align GVGD C65 kConFab 00574 No LOH
c.7638_7646del9 Align GVGD C65 Ontario 91494 No LOH
c.7886_7890delTATTA Protein truncating kConFab 31277 LOH of variant
c.8734A > G Align GVGD C65 Ontario 62131 LOH of variant
  1. ATM, ataxia telangiectasia mutated; kConFab, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; LOH, loss of heterozygosity.