Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes

Table 2 Polymorphic variant frequencies among breast cancer cases (probands) from the US Radiologic Technologist Health Study

Gene	Polymorphism*	Total** number	Common homozygote frequency		Heterozygote frequency		Rare homozygote frequency
			n	%	n	%	n	%
Base Excision Repair Genes
XRCC1	R194W(rs1799782)	748	664	88.8	82	11.0	2	0.3
XRCC1	R280H(rs25489)	748	676	90.4	71	9.5	1	0.1
XRCC1	R399Q(rs25478)	748	321	42.9	335	44.8	92	12.3
APEX	Q51H(rs1048945)	746	687	92.1	58	7.8	1	0.1
APEX	D148E(rs1130409)	745	219	29.4	387	51.9	139	18.7
POLD1	R119H(rs1726801)	748	650	86.9	92	12.3	6	0.8
BRCA1 interacting proteins
BRCA2	N289H(rs2421655)	748	698	93.3	50	6.7	0	0.0
BRCA2	N372H(rs144848)***	747	405	54.2	274	36.7	68	9.1
BRCA2	T1915I(rs4987717)	748	713	95.3	35	4.7	0	0.0
BRIP1	-64 G>A(rs2048718)	748	211	28.2	370	49.5	167	22.3
BRIP1	P919S(rs4986764)	745	268	36.0	355	47.7	122	16.4
ZBRK1	L66P(rs2278420)	744	535	71.9	190	25.5	19	2.6
ZBRK1	S472P(rs4986771)	748	694	92.8	52	7.0	2	0.3
ZBRK1	R501S(rs2278415)	746	576	77.2	154	20.6	16	2.1
ZBRK1	1845 C>T (rs4986770)***	747	640	85.7	107	14.3	0	0.0
Growth factor genes
TGFß1	L10P(rs1982073)	745	263	35.3	357	47.9	125	16.8
TGFß1	P25R(rs1800471)	745	629	84.4	109	14.6	7	0.9
TGFß1	T263I(rs1800472)	748	709	94.8	39	5.2	0	0
IGFΒP3	-202A>C(rs2854744)	746	194	26.0	360	48.3	192	25.7

* 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. dbSNP reference sequence number in parentheses. ** Numbers vary because not all the cases could be genotyped due to technical issues with the sample. Also some genotyped cases were dropped from kin-cohort analyses because telephone interviews had not been completed at the time of blood collection. *** Test for significant deviation from Hardy Weinberg Equilibrium, p = 0.05

ISSN: 1471-2407