Table 3.

Cumulative breast cancer risk ratios to age 50 and to age 70 by genotype among 2430 first degree female relatives of breast cancer cases (probands), 190 of whom were reported to have breast cancer

	Rare allele frequency	To age 50				To age 70
Polymorphism*		N**	RR	95% CI	p-value	N**	RR	95% CI	p-value
Base excision repair genes
XRCC1 R194W	0.06
RR		51	1.0	---		125	1.0	---
RW or WW		6	1.4	0.4–4.2	0.408	22	2.3	1.3–3.8	0.004
XRCC1 R280H	0.03
RR		52	1.0	---		134	1.0	---
RH or HH		5	0.7	0.0–2.4	0.736	13	1.2	0.5–2.5	0.522
XRCC1 R399Q	0.37
RR		21	1.0	---		59	1.0	---
RQ		22	0.7	0.1–2.0	0.444	64	1.1	0.4–1.6	0.636
QQ		14	3.4	1.3–9.3	0.014	24	1.9	1.1–3.9	0.010
APEX Q51H	0.04
QQ		49	1.0	---		134	1.0	---
QH or HH		7	3.0	0.5–6.7	0.216	12	1.7	0.7–3.1	0.236
APEX D148E	0.49
DD		20	1.0	---		49	1.0	---
DE		27	0.2	0.1–0.8	0.028	65	0.2	0.1–0.5	<0.001
EE		9	0.8	0.2–1.9	0.546	32	1.0	0.6–1.7	0.860
POLD1 R119H	0.06
RR		44	1.0	---		123	1.0	---
RH or HH		13	2.5	0.8–5.0	0.106	24	1.8	1.0–2.9	0.058
BRCA1 interacting proteins
BRCA2 N289H	0.03
MM		57	1.0	---		141	1.0	---
NH or HH		0	0	---	----	6	1.6	0.5–2.9	0.370
BRCA2 N372H	0.32
NN		30	1.0	---		89	1.0	---
NH		23	0.4	0.1–1.3	0.140	42	0.2	0.1–0.5	<0.001
HH		4	1.5	0.4–4.4	0.322	16	1.3	0.8–2.4	0.232
BRCA2 T1915M	0.05
TT		53	1.0	---		139	1.0	---
TM or MM		4	1.7	0.0–4.0	0.664	8	2.1	0.6–3.6	0.215
BRIP1 -64 G>A	0.46
GG		17	1.0	---		42	1.0	---
GA		24	0.4	0.1–1.2	0.126	70	0.7	0.2–1.2	0.112
AA		16	1.5	0.5–4.3	0.424	35	1.6	0.8–2.8	0.218
BRIP1 P919S	0.43
PP		10	1.0	---		52	1.0	---
PS		34	4.5	0.8–12.2	0.096	69	0.6	0.3–1.2	0.134
SS		12	6.9	1.6–29.3	0.018	25	1.3	0.8–2.8	0.220
ZBRK1 L66P	0.15
LL		43	1.0	---		108	1.0	---
LP or PP		14	0.9	0.3–2.0	0.712	38	1.2	0.7–1.9	0.304
ZBRK1 S472P	0.12
SS		55	1.0	---		137	1.0	---
SP or PP		2	0.8	0.0–2.2	0.614	10	1.6	0.6–2.9	0.312
ZBRK1 R501S	0.12
RR		46	1.0	---		116	1.0	---
RS or SS		11	0.8	0.2–1.8	0.534	31	1.2	0.7–2.1	0.434
ZBRK1 1845 C>T	0.06
CC		45	1.0	---		121	1.0	---
CT or TT		12	2.2	0.5–4.3	0.218	25	1.6	0.8–2.8	0.162
Growth factor genes
TGFß1 L10P	0.38
LL		25	1.0	---		54	1.0	---
LP or PP		31	0.5	0.2–1.2	0.148	92	0.8	0.5–1.5	0.536
TGFß1 P25R	0.10
PP		48	1.0	---		126	1.0	---
PR or RR		8	1.0	0.1–3.1	0.952	20	1.2	0.6–2.1	0.554
TGFß1 T263I	0.04
TT		54	1.0	---		138	1.0	---
TI or II		3	2.1	0.0–4.9	0.492	9	1.7	0.6–3.1	0.312
IGFBP3 -202 A>C	0.53***
AA		11	1.0	---		36	1.0	---
AC or CC		45	1.0	0.3–3.5	0.848	110	0.7	0.4–1.3	0.228

* Amino acids and their symbols: R: Arginine, W: Tryptophan, H: Histidine, Q: Glutamine, D: Aspartic Acid, E: Glutamic Acid, N: Asparagine, P: Proline, S: Serine, L: Leucine, I: Isoleucine, T: Threonine. ** Numbers represent those first degree female relatives who had breast cancer up to age 50 or 70 by the genotype of the case (index proband). The numbers are not the probabilistic assignment of the kin-cohort calculation to a specific genotype. *** Represents the frequency of the C allele, although not technically "rare".