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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

ISSN: 1471-2407

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