Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

Breast Cancer Research

Table 1 Haplotype frequencies in BRCA2, tag SNPs and DAE distribution

HAPLOTYPE PATTERN	Freq (%) HapMap CEU	rs1799943	rs11571579	rs9534174	rs206070	rs144848	rs4942440	rs9567576	DAE	No DAE
hap1	27.5	G	T	A	C	G	G	T	29	12
hap2	24.2	A	C	G	C	T	G	G	10*	0*
hap3	18.8	G	T	A	T	T	G	T	4	4
hap4	11.7	G	T	G	C	T	A	T	10	7
hap5	5	G	C	G	C	T	G	G	5	1

* P-value = 0.031, Sign-Test. CEU, Utah residents with Northern and Western European ancestry from the CEPH collection; DAE, differential allelic expression; SNP, single nucleotide polymorphism.

ISSN: 1465-542X