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

BMC Research Notes

Table 4 BRCA2 polymorphisms observed in 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

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.
²Valid result requires that the sequencing reaction is of sufficient quality as to detect the polymorphism.
³One of the unaffected carriers of the variant was female who was diagnosed with rectal cancer at age 55 years.

ISSN: 1756-0500