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Table 4 Haplotype analysis of intragenic BRCA2 polymorphisms associated with the 9106C>T BRCA2 mutation.

From: Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy

Polymorphisms

Family 25

Isolated cases

Position

Nucleotide change

BR22

BR23

BR99

BR100

BR101

BR102

BR103

BR175

BR342

TBL 38

  

M

w.t.

w.t.

M

M

M

w.t.

M

M

M

EX2

203G>A

G>A

G-G

G>A

A-A

A-A

A-A

G-G

G>A

G>A

G>A

INTR8

IVS8+56C>T

C-C

C-C

C>T

C>T

C-C

C-C

C-C

C>T

C-C

C>T

EX10B

1342A>C

A>C

C-C

A-A

A-A

A-A

A-A

C-C

A-A

A-A

A-A

EX11-J

3624A>G

A>G

A-A

A>G

G-G

G-G

G-G

A-A

A>G

A>G

A>G

EX11K

4035T>C

T-T

T-T

T>C

T-T

T-T

T-T

T-T

T-T

T>C

T-T

INTR11Q

IVS11+80del4

-4/4

4/4

-4/4

-4/-4

-4/4

-4/-4

4/4

-4/4

-4/4

-4/4

EX14A

7470A>G

A>G

A-A

A>G

G-G

G-G

G-G

A-A

A>G

A>G

A>G

INTR17

IVS16-14T>C

T>C

T>C

T>C

C-C

C-C

C-C

T>C

C-C

T>C

T>C

  1. M: mutated; w.t.: wild-type; numbers in bold indicate the shared allele.
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BMC Cancer

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