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Table 2

Germ-line BRCA1 variants identified in hereditary prostate cancer families from the University of Michigan Prostate Cancer Genetics Project

Exon/ intronNo. of familiesRace
Deleterious mutations    
3829delT Exon 11 White 
    
Missense variants    
Q356R Exon 11 White 
H448Y* Exon 11 Black 
D693N Exon 11 White 
N723D Exon 11 Black 
M1008V Exon 11 Black 
E1038G Exon 11 White 
S1040N Exon 11 White 
K1183R Exon 11 Black 
Q1200H Exon 11 Black 
R1203Q Exon 11 1 White/ 1 Black 
E1214K Exon 11 White 
R1347G Exon 11 White 
S1512I Exon 15 White 
S1613G Exon 16 White 
M1625I Exon 16 White 
I1858T* Exon 24 Black 
    
Unclassified variants    
561–34 C→T Intron 7 White 
667–79T→C* Intron 8 Black 
667–58 delT Intron 8 White 
2201C→T Exon11 10 9 White/ 1 Black 
2430T→C Exon 11 10 9 White/ 1 Black 
5194–53C→T* Intron 17 White 
5271 + 66G→A Intron 18 White 
5271 + 85delT* Intron 18 White 
5396 + 60insGTATTCCACTCC Intron 20 White 
5526 + 8T→C Intron 22 Black 
5711 + 36C→G Exon 24 Black 
Exon/ intronNo. of familiesRace
Deleterious mutations    
3829delT Exon 11 White 
    
Missense variants    
Q356R Exon 11 White 
H448Y* Exon 11 Black 
D693N Exon 11 White 
N723D Exon 11 Black 
M1008V Exon 11 Black 
E1038G Exon 11 White 
S1040N Exon 11 White 
K1183R Exon 11 Black 
Q1200H Exon 11 Black 
R1203Q Exon 11 1 White/ 1 Black 
E1214K Exon 11 White 
R1347G Exon 11 White 
S1512I Exon 15 White 
S1613G Exon 16 White 
M1625I Exon 16 White 
I1858T* Exon 24 Black 
    
Unclassified variants    
561–34 C→T Intron 7 White 
667–79T→C* Intron 8 Black 
667–58 delT Intron 8 White 
2201C→T Exon11 10 9 White/ 1 Black 
2430T→C Exon 11 10 9 White/ 1 Black 
5194–53C→T* Intron 17 White 
5271 + 66G→A Intron 18 White 
5271 + 85delT* Intron 18 White 
5396 + 60insGTATTCCACTCC Intron 20 White 
5526 + 8T→C Intron 22 Black 
5711 + 36C→G Exon 24 Black 
*

Germ-line variants that have not been reported previously.

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