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Table 2 Genotypes of an index case from 3398delAAAAG mutation carrier families.

From: Haplotype analysis suggest common founders in carriers of the recurrent BRCA2mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families

Family Number

Index case (mutation carrier)

Alleles

  

D13S260

D13S1699

D13S1698

D13S1697

D13S1701

D13S171

D13S1695

636* t

N2254

7 9

3 1

9 6

3 2

4 4

7 9

5 3

762* t

S359

7 7

3 4

9 9

3 2

5 3

7 2

5 5

859* t

N2865

7,4

3,6

9,8

3,1

4,6

7,2

5,4

937* t

S386-2

7 7

3,4

9,11

3,2

4,6

7,2

5 5

1450 t

S1376

7 5

3 4

9,11

3,2

4,2

7 2

5 3

1448 t

S1054

7,3

3 4

9 9

3 2

4 3

7,2

5 4

1429

N5445

7,4

3 3

9,11

3,2

4,3

7 7

5,2

1430

N5446

7 7

3,4

9 9

3,2

2,3

7,5

5 5

1441 t

S1908

7 7

3 4

9 9

3,2

4 3

7 2

5 9

1454 t

S922

7 8

3 3

9 3

3 3

4 4

7 9

5 5

1458 t

S2160

7 7

3 4

9 3

3 2

4 2

7 9

5 3

Mutation carriers

Deduced haplotype

3398delAAAAG

7

3

9

3

3,4

7

5

8765delAG

4

3

11

2

4

9

-

  1. Families reported previously [10] (*). The 3398delAAAAG associated alleles are in boldface type, haplotypes not segregating with the BRCA2 mutant alleles are in italics, and genotypes of unphased alleles are separated by a comma. Phase was established by comparing genotypes of two to nine family members per family where additional members were available for analysist. Alleles common in the French Canadian population reported previously [6]. The physical distance between D13S260 to D13S1695 is about 3.5 Mb [15]; BRCA2 is located between D13S1697 and D13S701 [11] The intermarker distances are D13S260 – 1.0 cM – D13S1699 – 0.7 cM – D13S1698 – 0.6 cM – D13S1697 – 0.2 cM – BRCA2 – 0.5 cM – D13S1701 – 0.6 cM – D13S171 – 0.3 cM – D13S1695 [12].