Skip to main content

Table 1 Polymorphisms found in the BRCA1 and BRCA2 genes by exon resequencing

From: BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families

Gene Nucleotide change Effect on protein NCBI SNP Clinical significance1 Case n=30
BRCA1 c.2311T>C L771L rs16940 No 3
c.3113A>G E1038G rs16941 No 2
c.4308T>C S1436S rs1060915 No 4
c.4675+1G>A INV15+1 rs80358044 Yes 1
c.4837A>G S1613G rs1799966 No 1
BRCA2 c.-41A>G 5'UTL - Unkown 1
c.-26G>A 5'UTL rs1799943 No 20
c.658delGT V220 (223stop) rs80359604 Yes 1
c.1114A>C N372H rs144848 No 1
c.3396A>G K1132K rs1801406 No 10
c.3807T>C V1269V rs543304 No 2
c.4258G>T D1420Y rs28897727 No 2
c.4563A>G L1521L rs206075 No 2
c.5244delC S1748 (1748stop) - Yes 1
c.5744C>T T1915M rs4987117 minor 2
c.7242A>G S2414S rs1799955 No 4
  c.7316delG G2439 (2468stop) - Yes 1
  1. 1 As clinically significant were considered nonsense, frameshift and splice site mutations, as well as missense ones which are considered as such in Breast Cancer Information Core database [16].