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Table 5 Loss of heterozygosity in tumor tissue

From: Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

  LOH in breast tumor LOH in ovarian tumor
Case Diagnosis Tissue studied BRCA1 mutation BRCA2 mutation Micro-satellite Data Sequence data Inference Micro-satellite data Sequence data Inference
1 DCIS DCIS c.5136G > A c.4965delC BRCA1, BRCA2 No No LOH    
2 Breast Inv Br c.1793 T > A c.8537_8538delAG BRCA2 BRCA1 No LOH    
3 Invasive breast Inv Br c.68_69delAG c.5946delT BRCA1 No No LOH    
5 Invasive breast DCISb c.181 T > G c.1318_1319dupCT No BRCA2 No LOH    
6 L Bilateral breast DCISb c.5251C > T c.6753_6754delTT No No No LOHd    
6R Bilateral breast DCISb c.5251C > T c.6753_6754delTT BRCA1 No No LOHd    
7 Invasive breast DCISb c.5266dupC c.8364G > A No BRCA1 No LOH    
8 Invasive breast DCISb c.3700_3704del5 c.681 + 1G > A BRCA1, BRCA2 BRCA1 BRCA1 LOH    
9 Invasive breast DCISb c.68_69delAG c.5946delT BRCA2 BRCA1, BRCA2 BRCA2 LOH    
10 Invasive breast Inv Br c.68_69delAG c.5946delT BRCA1, BRCA2 Failed Failedc    
11a Invasive breast Inv Br c.3770_3771delAG c.5946delT a a BRCA2 LOH    
12a Breast Inv Br c.68_69delAG c.5946delT a a No LOH    
2 Ovary Ov c.1793 T > A c.8537_8538delAG     BRCA1 BRCA1 BRCA1 LOH
4 Ovary Ov c.68_69delAG c.5946delT     No No No LOH
12a Ovary Ov c.68_69delAG c.5946delT a a No a a No LOH
  1. See also Additional file 1 (Table S5)
  2. aPreviously published, bwith micro-invasion, ccase failed due to no PCR amplification in the sequencing, dno LOH in either the right or left breast tumor
  3. DCIS ductal carcinoma in situ, Inv Br invasive breast cancer, LOH loss of heterozygosity, Ov ovarian cancer