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Table 3 Frequencies of the most common microsatellite alleles of the BRCA1 region in mutated probands and controls

From: Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy

  Markersa
D17S588 D17S806 D17S902 D17S855 D17S1328 D17S800 D17S250
48215496 45811789 41647103 41204744 41159779 39056258 37152091
136–160 136–182 137–173 143–157 247–267 166–178 145–163
c.116G > A Alleles b 156 170 149 149 247 170 149
  Cases (14)c 4 (0.29) 6 (0.43) 6 (0.43) 8 (0.57) 11 (0.79) 5 (0.36) 5 (0.36)
  Controls (140–180)c 52 (0.37) 30 (0.17) 32 (0.18) 28 (0.16) 146 (0.81) 80 (0.45) 45 (0.26)
  P valued n.s. <0.05 <0.05 <0.01 n.s. n.s. n.s.
c.181T > G Alleles b 148;156e 174 141 153 247 166 147
  Cases (14)c 4 (0.29);4 (0.29) 3 (0.21) 10 (0.71) 9 (0.64) 14 (1.0) 6 (0.43) 4 (0.29)
  Controls (140–180)c 33 (0.24);52 (0.37) 16 (0.09) 24(0.13) 24 (0.13) 146 (0.81) 16 (0.09) 23 (0.13)
  P valued n.s. n.s. <0.01 <0.01 n.s. <0.01 n.s.
c.676delT Alleles b 154 170 149 149 247 174 149
  Cases (18)c 10 (0.56) 10 (0.56) 10 (0.56) 9 (0.50) 16 (0.89) 10 (0.56) 5 (0.36)
  Controls (140–180)c 44 (0.31) 30 (0.17) 32 (0.18) 28 (0.16) 146 (0.81) 38 (0.21) 45 (0.26)
  P valued n.s. <0.01 <0.01 <0.01 n.s. <0.01 n.s.
c.1687C > T Alleles b 152 170 145 145 247 170 149
  Cases (14)c 5 (0.36) 7 (0.50) 8 (0.57) 7 (0.50) 12 (0.86) 9 (0.64) 4 (0.29)
  Controls (140–180)c 20 (0.14) 30 (0.17) 19 (0.11) 39 (0.22) 146 (0.81) 80 (0.45) 24 (0.14)
  P valued n.s. <0.01 <0.01 <0.05 n.s. n.s. n.s.
c.5266dupC Alleles b 154 170 141 151 247 170 153
  Cases (18)c 5 (0.28) 7 (0.39) 6 (0.33) 12 (0.67) 17 (0.94) 9 (0.50) 3 (0.17)
  Controls (140–180)c 44 (0.31) 30 (0.17) 24 (0.13) 42 (0.24) 146 (0.81) 80 (0.45) 24 (0.14)
  P valued n.s. n.s. <0.05 <0.01 n.s. n.s. n.s.
  1. aPhysical map positions on chromosome 17 based on Genome Reference Consortium Human Build 37 (GRCh37) [47] and allele size ranges are indicated for each locus
  2. bThe most frequent allele of the cases is reported for each locus. Alleles showing statistically significant association (corrected P value < 0.05) are underlined
  3. cTotal number of case and control chromosomes in parentheses. Number of chromosomes carrying the indicated alleles are reported for each locus, along with the allele frequency in parentheses
  4. dn.s. not significant
  5. eTwo common alleles with similar frequency were observed at this locus