Table 3. Genetic association of rs148972953 with tumour characteristics (oestrogen and progesterone receptor status and metastases).

		Oestrogen receptor		Progesterone receptor
Study population	rs148972953	positive	negative	positive	negative
Sequencing +	Wild-type (GG)	266	41	234	73
RPBCMS	Carrier (AG or AA)	9	5	6	8
Combined	p-value	0.035		0.006
(n = 321)	OR (95% CI)	1	3.60 (1.15–11.28)	1	4.27 (1.43–12.72)
MARIE cases	Wild-type (GG)	1919	504	1610	809
(n = 2,499)	Carrier (AG or AA)	58	18	51	25
	p-value	0.543		0.920
	OR (95% CI)		1.18 (0.69–2.02)	1	0.97 (0.60–1.58)

Notes:

Due to the low minor allele frequency of rs148972953, heterozygous and homozygous mutation allele carriers were assessed combined in comparison to wild-type allele carriers assuming a dominant mode of inheritance.

For this analysis, only samples with complete information on ER, PR and an rs148972953 genotype were taken into consideration.

OR … odds ratio.

95% CI … 95% confidence interval.

RPBCMS… Risk Prediction of Breast Cancer Metastasis Study.