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Table 1 Variants identified in the BRCA1 and BRCA2 genes during this study.

From: Characterization of a novel large deletion and single point mutations in the BRCA1gene in a Greek cohort of families with suspected hereditary breast cancer

Mutation
Family No Total No of CaBr1 No of CaOv2 cases Exon Nucleotide Effect Other cancers (age at onset)
A 4 - 20 5382ins C Fs3 -
B 7 - 20 5331 G > A G1738R Colorectal (50)
C 4 1 23 5586G > A Splicing Larynx Lungs Genitalia
D 5 - 20 Deletion of the entire exon Protein missing 20 a.a. of the BRCT-linker domain Colorectal
E 3 - 20 5382ins C Fs3 -
Benign polymorphisms
  Exon Codon Nucleotide Change Consequences No of families
BRCA1 IVS 4 IVS4-19 C > A - 1
  IVS 7 IVS7-34 C > T - 2
  11 693 2196G > A Asp > Asn 2
   694 2201C > T Ser > Ser 5
   771 2430T > C Leu > Leu 6
   871 2731C > T Pro > Leu 3
   1038 3232A > G Glu > Gly 7
   1040 3238G > A Ser > Asn 1
   1145 4 3544T > C Val > Val 1
   1150 3567C > T Pro > Ser 1
   1183 3667A > G Lys > Arg 7
  13 1436 4427T > C Ser > Ser 4
  16 1613 4956A > G Ser > Gly 1
  24 1829 5606G > A Glu > Glu 2
BRCA2 10 372 1342A > C Asn > His 1
  11 1132 3624A > G Lys > Lys 2
   1269 4053T > C Val > Val 1
  14 2414 7470A > G Ser > Ser 1
  1. 1 CaBr = Breast Cancer
  2. 2 CaOv = Ovarian Cancer
  3. 3 fs = frame-shift mutation
  4. 4 novel polymorphism identified in this study
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BMC Cancer

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