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Table 3 BRCA2 variants of unknown significance 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

No. found in prostate cases

/total found

/no. with valid results2

Pedigree segregation

11

5972C>T

M1915T

UV(7)

0/1/12

--3

I14

IVS14-62A>G

Intronic

NA

1/1/12

--

  1. 1UV = unclassified variant. 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. 3This variant was previously reported to be present in prostate cancer cases by others.21