Skip to main content

Table 4 Frequencies of the most common microsatellite alleles of the BRCA2 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

D13S220

D13S267

D13S171

D13S1701

D13S1698

D13S260

D13S290

D13S1246

35169554

34264119

33253912

33144530

32704522

32436758

31429174

31105437

187–203

144–160

226–242

283–311

151–179

154–172

174–192

191–211

c.5682C > G

Alleles b

189

156

226

299

155

162

174

201

 

Cases (10)c

5 (0.5)

3 (0.3)

5 (0.5)

6 (0.6)

6 (0.6)

5 (0.5)

7 (0.7)

4 (0.4)

 

Controls (142–182)c

59 (0.42)

38 (0.22)

40 (0.22)

51 (0.29)

46 (0.25)

19 (0.11)

105 (0.6)

26 (0.14)

 

P valued

n.s.

n.s.

n.s.

n.s.

<0.05

<0.01

n.s.

n.s.

c.7806-2A > G

Alleles b

199

144

230

299

155

160

174

205

 

Cases (26)c

10 (0.38)

19 (0.73)

18 (0.69)

16 (0.62)

16 (0.62)

14 (0.54)

20 (0.77)

9 (0.35)

 

Controls (142–182)c

34 (0.24)

68 (0.40)

73 (0.41)

51 (0.29)

46 (0.25)

28 (0.16)

105 (0.6)

60 (0.33)

 

P valued

n.s.

<0.01

<0.02

<0.01

<0.01

<0.01

n.s.

n.s.

c.8878C > T

Alleles b

189

144

240

287

173

168

174

199

 

Cases (10)c

4 (0.4)

5 (0.5)

7 (0.7)

5 (0.5)

5 (0.5)

4 (0.4)

8 (0.8)

4 (0.4)

 

Controls (142–182)c

34 (0.24)

68 (0.4)

61 (0.34)

22 (0.12)

4 (0.02)

28 (0.16)

105 (0.6)

32 (0.18)

 

P valued

n.s.

n.s.

<0.05

<0.01

<0.01

n.s.

n.s.

n.s.

  1. aPhysical map positions on chromosome 13 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