Table 1.

Priority regions of BRCA1/2 genes for screening.

Region of Interest	Hg19 Coordinates	Length	Comments
BRCA1 promoter	chr17: 41,277,500–41,278,500	1000 bases	Comprises 1 kb upstream on transcription start site
BRCA1 5′UTR (exon 1A)	chr17: 41,277,287–41,277,500	223 bases	Exon 1A
BRCA1 5′UTR (exon 1B)	chr17: 41,277,340–41,277,197	145 bases	Exon 1B
BRCA1 5′UTR + ATG (exon 2 to ATG)	chr17: 41,276,110–41,276,133	22 bases	5′ end of Exon 2
BRCA1 intron 2	chr17: 41,271,250–41,272,100	850 bases	Includes validated enhancer and repressor elements that participate in gene looping and are conserved. Also contains sequences that UCSC/ENCODE indicates this region contains transcription factor binding sites, DnaseHS sites
BRCA1 intron 12 (region 1)	chr17: 41,237,500–41,237,850	350 bases	UCSC/ENCODE indicates this region contains transcription factor binding sites, DnaseHS sites and is conserved.
BRCA1 intron 12 (region 2)	chr17: 41,236,600–41,236,960	360 bases	UCSC/ENCODE indicates this region contains transcription factor binding sites, DnaseHS sites and is conserved.
BRCA1 intron 16	Chr17: 41,220,900–41,221,250	350 bases	UCSC/ENCODE indicates this region contains transcription factor binding sites, DnaseHS sites
BRCA1 3′UTR (exon 24)	chr17: 41,196,311–41,197,698	1387 bases	From and including stop codon
BRCA2 promoter	chr13: 32,888,616–32,889,616	1000 bases	Comprises 1 kb upstream on transcription start site
BRCA2 5′UTR (exon 1)	chr13: 32,889,616–32,889,805	189 bases	Exon 1 (Refseq)
BRCA2 5′UTR (exon 2 to ATG)	chr13: 32,890,558–32,890,600	42 bases	Includes translation start codon
BRCA2 3′UTR	chr13: 32,972,904–32,973,809	905 bases	From and including stop codon