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Table 4 BRCA2 polymorphisms observed in Utah high-risk prostate cancer pedigrees

From: No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees

Exon
/Intron
Nucleotide change Amino Acid change Desc.
on
BIC1
# found in prostate cases
/total found
/# with valid results2
Pedigree segregation Literature observing same variant in other prostate cancer cases
2 203G>A 5' UTR P(14) 1/2/12 -- 11,19,21,22
10 1093A>C N289H M(9), UV(12) 2/3/123 9434307 11,19,21,22
10 1342A>C N372H M(9) 5/6/123 9990205 11,19,21,22
10 1593A>G S455S Syn(7) 2/3/123 9434307 11,19,21,22
11 2457T>C H743H Syn(4) 2/3/123 9434307 19,21,22
11 3199A>G N991D M(3) 2/3/123 9434307 19,21,22
11 3624A>G K1132K Syn(8) 1/2/12 -- 19,21,22
11 4035T>C V1269V Syn(3) 3/3/12 9445402 19,21,22
14 7470A>G S2414S Syn(10) 1/2/12 -- 11,19,21,22
15 7772C>T T2515I M(70) 1/1/10 -- 16
I17 IVS17
-14T>C
Intronic M(15) 5/7/123 9434307
9775803
21,22
  1. 1P = polymorphism, M = missense, UV = unclassified variant, Syn = synonymous. Value in parentheses represents the number of times there is an entry for the given mutation in the BIC database.
  2. 2Valid result requires that the sequencing reaction is of sufficient quality as to detect the polymorphism.
  3. 3One of the unaffected carriers of the variant was female who was diagnosed with rectal cancer at age 55 years.