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Table 3 Haplotype estimation for five high frequency BRCA1 SNVs found in the HBOC cohort

From: Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

Hpp.Pro871Leup.Glu1038Glyp.Lys1183Argp.Ser1613Glyc.*421G > THap.ControlHBOCp-value
(CCG→CTG)(GAA→GGA)(AAA→AGA)(AGT→GGT)(G → T)freq.(n = 136)(n = 119)
1ProGluLysSerG0.5460.5330.5630.532
2LeuGlyArgGlyT0.2480.2920.1990.020
3LeuGluLysSerG0.1360.1290.1430.633
4ProGluLysSerT0.0280.0170.0380.172
5LeuGlyLysGlyT0.0280.0170.0380.172
6LeuGlyLysSerT0.0080.0070.007NA
7LeuGlyLysGlyG0.0040.0040.424NA
8LeuGluArgGlyG0.0030.0030.000000002NA
9LeuGlyArgGlyG0.0020.000000020.004NA
  1. Hp Estimated haplotypes, Hap. freq. General haplotype frequency found for all samples, Control Haplotype frequency found for the 136 elderly control samples, HBOC Haplotype frequency found for the 119 HBOC samples, p-value Haplotype score statistic p-value calculated by Haplo.stats, and considered significant when p>0.05 (in bold, the p-value considered as significant), NA When the haplotype score statistic p-value could not be calculated