Genetic risk variants associated with in situ breast cancer

Campa, Daniele; Barrdahl, Myrto; Gaudet, Mia M.; Black, Amanda; Chanock, Stephen J.; Diver, W. Ryan; Gapstur, Susan M.; Haiman, Christopher; Hankinson, Susan; Hazra, Aditi; Henderson, Brian; Hoover, Robert N.; Hunter, David J.; Joshi, Amit D.; Kraft, Peter; Le Marchand, Loic; Lindström, Sara; Willett, Walter; Travis, Ruth C.; Amiano, Pilar; Siddiq, Afshan; Trichopoulos, Dimitrios; Sund, Malin; Tjønneland, Anne; Weiderpass, Elisabete; Peeters, Petra H.; Panico, Salvatore; Dossus, Laure; Ziegler, Regina G.; Canzian, Federico; Kaaks, Rudolf

doi:10.1186/s13058-015-0596-x

Breast Cancer Research

Table 2 Association between the selected SNPs and risk of developing breast cancer in situ

From: Genetic risk variants associated with in situ breast cancer

SNP	Gene	Alleles^a		Cases			Controls			OR (95 % CI)	Ptrend	Reference
SNP	Gene	Alleles^a		MM	Mm	mm^b	MM	Mm	mm^b	OR (95 % CI)	Ptrend	Reference
rs11249433	NOTCH2	T	G	412	588	228	4757	5523	1892	1.10 (1.01-1.20)	0.022993	[34, 35]
rs10931936	CASP8	G	T	595	479	82	5705	4499	840	0.99 (0.90-1.09)	0.876814	[36]
rs1045485	CASP8	G	G	629	163	15	6653	1839	133	0.94 (0.80-1.11)	0.481823	[37]
rs13387042	Intergenic	A	G	369	590	258	3452	5942	2847	0.88 (0.81-0.96)	0.004138	[18]
rs4973768	SLC4A7	G	T	300	617	307	3482	6000	2728	1.07 (0.98-1.17)	0.11062	[38]
rs4415084^c	Intergenic	G	T	384	620	218	4133	5847	2217	1.11 (1.01-1.21)	0.023783	[19]
rs10941679	Intergenic	A	G	610	478	88	6626	4601	854	1.18 (1.07-1.30)	0.001069	[19]
rs10069690	TERT	G	T	665	467	87	6199	4136	774	1.03 (0.93-1.13)	0.573721	[39]
rs889312	MAP3K1	A	G	603	506	130	6113	5020	1135	1.16 (1.06-1.27)	0.001841	[17]
rs17530068	Intergenic	T	G	727	425	86	6642	4137	648	1.01 (0.91-1.11)	0.879429	[35]
rs13437553	Intergenic	T	G	340	181	41	4628	2761	414	1.00 (0.86-1.15)	0.953341	[35]
rs1917063^d	Intergenic	G	T	741	424	74	6933	3949	571	1.03 (0.94-1.14)	0.502161	[35]
rs9344191^e	Intergenic	T	G	680	447	100	6365	4280	735	1.04 (0.95-1.15)	0.40587	[35]
rs2180341^f	RNF146	A	G	685	458	81	6395	4084	650	1.06 (0.96-1.17)	0.250858	[40]
rs3757318	Intergenic	G	A	1019	197	8	9641	1631	54	1.19 (1.02-1.39)	0.02862	[26]
rs9383938	Intergenic	G	T	1013	212	12	9530	1820	85	1.13 (0.97-1.30)	0.108581	[35, 41]
rs2046210	Intergenic	G	T	501	565	163	5216	5494	1535	1.09 (0.99-1.19)	0.071176	[42, 43]
rs13281615	Intergenic	A	G	419	582	210	4068	5818	2232	1.00 (0.92-1.10)	0.915006	[38]
rs1562430	Intergenic	T	G	419	595	222	3821	5594	2023	1.00 (0.92-1.09)	0.992865	[26]
rs1011970	CDKN2BAS	G	T	793	396	42	7977	3099	319	1.24 (1.11-1.38)	0.000127	[44]
rs865686	Intergenic	T	G	481	599	157	4511	5257	1673	0.96 (0.88-1.04)	0.328473	[44]
rs2380205	Intergenic	G	T	402	597	239	3502	5637	2272	0.98 (0.90-1.06)	0.579359	[44]
rs10995190	ZNF365	G	A	943	277	18	8224	2923	238	0.82 (0.72-0.93)	0.001998	[44, 45]
rs16917302	ZNF365	A	G	1006	220	12	9313	2041	102	1.01 (0.88-1.17)	0.849328	[45, 46]
rs1250003^g	ZMIZ1	A	G	444	567	227	4369	5309	1742	1.13 (1.04-1.24)	0.004096	[44, 47]
rs3750817	FGFR2	G	T	503	552	178	3989	5362	1804	0.86 (0.79-0.94)	0.00101	[48]
rs2981582	FGFR2	G	T	385	608	241	4591	5793	1847	1.23 (1.13-1.34)	0.00000283	[38]
rs3817198	LSP1	T	G	550	540	138	5807	5185	1178	1.03 (0.94-1.13)	0.467045	[17]
rs909116	LSP1	T	G	357	608	269	3125	5656	2640	0.96 (0.88-1.04)	0.309715	[26]
rs614367	Intergenic	G	T	548	188	19	5783	1909	186	1.04 (0.89-1.21)	0.63419	[49]
rs999737^h	RAD51L1	G	T	751	418	58	6575	3927	656	0.89 (0.80-0.99)	0.025235	[34]
rs3803662	TNRC9	G	T	572	514	116	6132	4896	1070	1.20 (1.09-1.32)	0.00015	[17, 18]
rs2075555	COL1A1	G	A	939	265	13	8348	2582	211	0.88 (0.77-1.01)	0.062916	[50]
rs6504950	COX11	G	A	653	499	85	6586	4772	911	0.96 (0.88-1.06)	0.444627	[38]
rs12982178	USHBP1	T	G	790	391	58	7458	3649	476	1.02 (0.92-1.14)	0.667534	[35]
rs8170	C19Orf62	G	A	816	372	50	7699	3446	420	1.02 (0.91-1.13)	0.736771	[35]
rs2284378ⁱ	RALY	G	T	504	455	107	4955	4625	1079	0.95 (0.86-1.05)	0.298392	[35]
rs4911414	Intergenic	G	T	549	545	135	5083	5000	1295	0.95 (0.87-1.04)	0.26966	[35]
rs311499^j	GMEB2	G	T	1049	169	14	9878	1491	68	1.17 (1.00-1.37)	0.04566

SNP single nucleotide polymorphism, OR, odds ratio, CI confidence interval
^aThe first allele is the major, the second is the minor allele
^bM = Major allele; m = minor allele
^c5p12-rs4415084 or surrogate 5p12-rs920329
^d6q14-rs1917063 or surrogate 6q14-rs9344208
^e6q14-rs9344191 or surrogate 6q14-rs9449341
^f ECHDC1R, NF146-rs2180341 or surrogate ECHDC1R, NF146-rs9398840
^g ZMIZ1-rs1250003 or surrogate ZMIZ1-rs704010
^h RAD51L1-rs999737 or surrogate RAD51L1-rs10483813
ⁱ RALY-rs2284378 or surrogate RALY-rs6059651, RALY-rs8119937
^j GMEB2-rs311499 or surrogate GMEB2-rs311498

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