The University of Southampton
University of Southampton Institutional Repository

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11
Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ? 1 × 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10(-8)) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10(-6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10(-9)), and with both ER-positive (OR = 1.09; P = 1.5 × 10(-5)) and ER-negative (OR = 1.16, P = 2.5 × 10(-7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.
5373-5384
Siddiq, A.
06a10809-b07f-48c9-8910-f651f612cea5
Couch, F.J.
cf80080b-6123-4085-99cd-e682f0823efe
Chen, G.K.
1d1cb871-54dc-44bf-901c-2b8d0aab144a
Lindstrom, S.
081c0190-b61e-4612-9501-f7165de43c2c
Eccles, D.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Millikan, R.C.
83cf19da-8108-4dcc-b4c6-302edc731fd6
Michailidou, K.
d87833ef-cad1-4d8c-9ea7-592075d93774
Stram, D.O.
d81fae0f-c343-4106-926a-d1be090ff5e0
Beckmann, L.
150e8a69-d93a-47a9-9bba-a89d152a5fa6
Rhie, S.K.
a9d2aabe-b7a1-4677-beaf-7887fe0795b6
Ambrosone, C.B.
60fadd6e-6bc2-41fc-a768-5b248c5bc111
Aittomaki, K.
e95aceed-a267-41d7-8e61-adcf48bcf4ef
Amiano, P.
82e7e6e4-c8c6-4f57-9495-7f5e998a12a9
Apicella, C.
cd20d4e9-1a92-4e89-bc85-57a4017d4506
Baglietto, L.
8fbc734a-b47b-4ee9-bee6-23210ae126dd
Bandera, E.V.
8486e0f9-b736-44b1-9584-03cbe153f700
Beckmann, M.W.
259c55a8-0ea1-42a9-abc2-514fc0a1ad25
Berg, C.D.
8b7cc257-77fa-43c9-ac82-7478f3d479ae
Bernstein, L.
d418c0aa-7260-4c6b-805b-5252f8d0da06
Blomqvist, C.
61aa59a2-9f7b-4f93-9984-8196c9a59384
Brauch, H.
7e94c1ce-69f5-4378-bff3-ad81f0bef189
Brinton, L.
dbd1c4c4-ad4e-4c0c-8d48-d0fdf66b23b6
Bui, Q.M.
d5aab4e6-1097-4031-9d54-b5b1c7b404be
Buring, J.E.
33ed58ec-3074-4478-8caa-02c0f308dffc
Buys, S.S.
f40da36f-d07f-4a9b-b115-993a87b4425c
Campa, D.
428fa14e-4304-4266-ae3e-bb396ac82746
Carpenter, J.E.
f93312e5-c5fc-4147-87cb-4cf28f0ea931
Chasman, D.I.
f960b71b-f13a-4176-9509-b6394cef455c
Chang-Claude, J.
148388a1-b116-4ebd-9d4a-190975ed0cfd
Chen, C.
ebea955a-5c35-4ccb-9431-9aafaa9fda78
Clavel-Chapelon, F.
fbcc4f41-7181-4db6-957a-dd9dcf293d68
Cox, A.
93ffb38c-ff07-4e67-9403-264a6f72265e
Cross, S.S.
cf8a6504-6a4c-4271-af29-f8cb6a3e27e5
Czene, K.
9b308876-2d09-4e8c-aa62-1be543a86b02
Deming, S.L.
03994d2a-5ac4-4405-b2c4-00b4f20222d6
Diasio, R.B.
e0e5b53b-2eef-4714-a723-b36df651d3fd
Diver, W.R.
56668cb9-249a-4f40-841b-c27e5dbd3804
Dunning, A.M.
1e319e8b-20d9-4032-ae08-cac48ff41786
Durcan, L.
bd059b41-9e77-4afe-b271-9ac4c91a05c6
Ekici, A.B.
44ca45c0-3a86-4a3d-9266-ef6c2b3007d3
Fasching, P.A.
27eebdb3-353a-435d-8859-c7d9002a0ef2
Feigelson, H.S.
cf1703b5-9e7f-4b25-8785-e901de9a218b
Fejerman, L.
cfe88069-9595-4e8e-87cd-bba3bbacfdc2
Figueroa, J.D.
496e68bc-fae0-4f74-b6ab-0af83eb8022c
Fletcher, O.
0219ba24-dbff-4dd1-8d5d-129e83e3d3a4
Flesch-Janys, D.
7ac33ddc-c333-49f5-91e7-cdbb3864854a
Gaudet, M.M.
b8c8f0fd-79c6-4e2e-8bb0-a5ac5081f137
Gerty, S.M.
b2013815-27c9-4a7d-ad42-071f60a8000f
Rodriguez-Gil, J.L.
4656d09c-cc1f-401e-a55a-53389d96fcf6
Giles, G.G.
0b0f152d-4def-473d-aa0f-6f1372f8b7a4
van Gils, C.H.
69fb9e9d-2a12-4f84-94c1-990b641483f0
Godwin, A.K.
7b6c036b-08f9-4447-8444-83e2a34e0fa2
Graham, N.
9b8ddc5c-19f9-400a-ba97-bb5afd7becac
Greco, D.
03179151-9551-4426-8f06-8f828f074640
Hall, P.
d94fc973-0aac-4c84-b8af-1601491aedf9
Hankinson, S.E.
8b92e475-f79e-45e9-8f6f-96752b858898
Hartmann, A.
761a0732-ad6a-4338-94b4-6ca9318bea3c
Hein, R.
a6d0a67b-b805-444f-93cf-3df365a2c198
Heinz, J.
efa54b6e-e361-4210-bbde-e4fb4ec0a60f
Hoover, R.N.
ca7535a5-ec09-4efb-92e2-2902eb6dd45f
Hopper, J.L.
4d03ec4a-627b-45e3-8c73-6bd2959ac47e
Hu, J.J.
f1ad7569-c5fb-4695-bacf-a88ab5af285b
Huntsman, S.
0988b3ac-52e9-4052-8ecd-4ef8b523daa6
Ingles, S.A.
bb1c2606-4871-47be-97e9-689bb30e7dbd
Irwanto, A.
32785563-740d-4b9a-83b2-1aadfc063dce
Isaacs, C.
e8a03aad-5b05-480e-96b3-d2e7dfb3e97e
Jacobs, K.B.
c433c325-aaae-465c-a226-7b5e69bddddd
John, E.M.
4d957667-9990-4e85-9537-8f406cdf11de
Justenhoven, C.
eaf3e7d2-fb81-4cb1-ba7a-41a0035cfe7c
Kaaks, R.
ed30975c-61f9-4ac2-9229-3975e4fc5c67
Kolonel, L.N.
3b89de15-767e-4abc-8920-3a46525885c9
Coetzee, G.A.
d0ce10a0-7b97-453c-9dbc-4ba0edfcc18f
Lathrop, M.
0f7b31bc-70e1-4121-ace6-0e676d4d8d5b
Le Marchand, L.
e02fe541-7847-474f-9e39-86bb63f2bb73
Lee, A.M.
b7a05220-1c96-4bf4-b1e2-8e03b1041823
Lee, I.-M.
58f3f877-8e4d-4a0e-868d-45982485d1a6
Lesnick, T.
b39911e1-f678-4729-abe5-3a7d4c35adae
Lichtner, P.
ffdf9416-d39b-40a0-abc4-1e409567ee8c
Liu, J.
516e902e-000e-4f9c-b9bc-bac18b1f5ade
Lund, E.
c663d217-9333-4b98-b59c-06c93cf4ba81
Makalic, E.
497c853c-3394-4adf-84b3-1bcf4f06ad55
Martin, N.G.
7a2b8289-2261-4da6-8b91-dd7b48981d1e
McLean, C.A.
cc4695b4-da35-4509-9e54-74df2ad9632a
Meijers-Heijboer, H.
49a7f98d-8d64-44d5-b1df-d6d28d442a2f
Meindl, A.
c4137854-f7f9-4726-92c8-c3e386ee363a
Miron, P.
812cc55f-46ba-409c-b153-7d7672720ff2
Monroe, K.R.
7c7da0c9-c0f7-4627-9e2f-7f879a6507e2
Montgomery, G.W.
c527c036-75e9-41f5-9b7d-ba85c0ec1f53
Muller-Myhsok, B.
8c0aad28-28a5-474d-9f40-b497ff033d29
Nickels, S.
f3b407da-f787-4d4d-a1c7-14a9d980dc9b
Nyante, S.J.
2dfecc81-7cbb-41da-aca0-0be5630e45f1
Olswold, C.
13661380-74ba-4086-8d63-afe9de269027
Overvad, K.
906a2697-0ee4-4afe-bf28-b8b131fae940
Palli, D.
63550cfd-9134-454b-8d2a-a2d5e6d6b1bc
Park, D.J.
effd56b4-ef78-4e67-8198-4059ecd26aae
Palmer, J.R.
d16c9cea-efeb-4641-b0f7-f2ba621a90a2
Pathak, H.
55e13f76-d56d-4fee-8598-a8d69b1a7cbf
Peto, J.
e6de4fa9-83fe-4cd8-8ade-00571799204d
Pharoah, P.
59a5f56d-1152-4b6d-8c1e-4007802e1bdb
Rahman, N.
6b59a4f8-b2c5-46a3-a660-66baab614029
Rivadeneira, F.
642dbd8d-88a9-469d-826c-b75280f5620d
Schmidt, D.F.
7945ef79-fbdd-491d-9909-6f599fa205d1
Schmutzler, R.K.
70d436d3-82ba-45dd-baaf-b97b8dda961f
Slager, S.
c0210a0d-cfc4-4094-bc21-0783e588b715
Southey, M.C.
8ec82634-3bcf-44e4-adb5-56b506a2607d
Stevens, K.N.
6e935135-d76b-4a9b-a756-79d6b5dee1a9
Sinn, H.-P.
f04fc77d-ddac-4133-8451-41e75f1e98b4
Press, M.F.
a7bd12de-8074-4d1e-8d40-8a3616de8ec8
Ross, E.
6ad7beff-bca3-4209-8a94-6c7b2a308a57
Riboli, E.
b23d8913-f6b0-49fc-8fcb-ef5d83d60741
Ridker, P.M.
21d0d00a-c22c-4707-8a22-f616fadd5676
Schumacher, F.R.
978e8dfd-fa24-46ee-985b-fc6263042d12
Severi, G.
d4b1d84e-10ef-4dd8-96a8-0b94d5215ad6
dos Santos Silva, I.
42f12121-59b8-4c3f-a429-ba7f8b6a5141
Stone, J.
4caf9f0c-2db1-44b5-97cd-eaaeb0668452
Sund, M.
f279c653-3662-4ed0-bda6-5009a259bf66
Tapper, W.J.
9d5ddc92-a8dd-4c78-ac67-c5867b62724c
Thun, M.J.
19a69e05-47f2-4303-9282-789603753552
Travis, R.C.
2ef08dda-9398-4f2e-a5f6-523aad00ce4b
Turnbull, C.
b24a936c-c216-44a3-83b8-1d1c54dfb1c6
Uitterlinden, A.G.
e15f45d4-cdaf-4d8e-9f77-38e4cddd3c5a
Waisfisz, Q.
a1665570-39ef-4c6f-99a4-0d1618ddb2eb
Wang, X.
43a1af58-225d-4b86-9026-0fecbc8daf03
Wang, Z.
8983928f-aca4-4b48-a71b-959646c6aa77
Weaver, J.
cabda2af-c893-4a90-a431-23d98288201e
Schulz-Wendtland, R.
51d1c613-3b84-432a-90f5-731f005d3495
Wilkens, L.R.
ae790795-3812-432a-a5d6-cf3732cf527a
Van Den Berg, D.
b9b6d7ba-2f9e-40d9-afcf-4e6eed094b05
Zheng, W.
1158fbd9-706d-4755-a934-e0300c538a2a
Ziegler, R.G.
fcad703c-1e34-4e5d-bffb-3ff995768ca1
Ziv, E.
3ea7dd31-cc26-4492-9100-d03aef7c3e66
Nevanlinna, H.
188d5d63-7183-49de-8721-242adee86703
Easton, D.F.
ef4b7694-86fa-4568-969f-d0ee512127fc
Hunter, D.J.
858ea3f1-f56d-4a1f-bac3-a82ca68e89e7
Henderson, B.E.
d48228ab-a5df-411f-9265-8d0086a2ede6
Chanock, S.J.
448f2ebe-33f1-4692-9c9f-92dc38e3612a
Garcia-Closas, M.
353b0a3c-e5dd-4a43-bd35-b22f6929cc58
Kraft, P.
b2c012f4-033b-4306-b07d-3d01746467ec
Haiman, C.A.
48ee70d8-7556-4bad-8d6a-3870a068fa0d
Vachon, C.M.
31f3ce8c-faac-44cf-972e-2c02aad99db4
Siddiq, A.
06a10809-b07f-48c9-8910-f651f612cea5
Couch, F.J.
cf80080b-6123-4085-99cd-e682f0823efe
Chen, G.K.
1d1cb871-54dc-44bf-901c-2b8d0aab144a
Lindstrom, S.
081c0190-b61e-4612-9501-f7165de43c2c
Eccles, D.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Millikan, R.C.
83cf19da-8108-4dcc-b4c6-302edc731fd6
Michailidou, K.
d87833ef-cad1-4d8c-9ea7-592075d93774
Stram, D.O.
d81fae0f-c343-4106-926a-d1be090ff5e0
Beckmann, L.
150e8a69-d93a-47a9-9bba-a89d152a5fa6
Rhie, S.K.
a9d2aabe-b7a1-4677-beaf-7887fe0795b6
Ambrosone, C.B.
60fadd6e-6bc2-41fc-a768-5b248c5bc111
Aittomaki, K.
e95aceed-a267-41d7-8e61-adcf48bcf4ef
Amiano, P.
82e7e6e4-c8c6-4f57-9495-7f5e998a12a9
Apicella, C.
cd20d4e9-1a92-4e89-bc85-57a4017d4506
Baglietto, L.
8fbc734a-b47b-4ee9-bee6-23210ae126dd
Bandera, E.V.
8486e0f9-b736-44b1-9584-03cbe153f700
Beckmann, M.W.
259c55a8-0ea1-42a9-abc2-514fc0a1ad25
Berg, C.D.
8b7cc257-77fa-43c9-ac82-7478f3d479ae
Bernstein, L.
d418c0aa-7260-4c6b-805b-5252f8d0da06
Blomqvist, C.
61aa59a2-9f7b-4f93-9984-8196c9a59384
Brauch, H.
7e94c1ce-69f5-4378-bff3-ad81f0bef189
Brinton, L.
dbd1c4c4-ad4e-4c0c-8d48-d0fdf66b23b6
Bui, Q.M.
d5aab4e6-1097-4031-9d54-b5b1c7b404be
Buring, J.E.
33ed58ec-3074-4478-8caa-02c0f308dffc
Buys, S.S.
f40da36f-d07f-4a9b-b115-993a87b4425c
Campa, D.
428fa14e-4304-4266-ae3e-bb396ac82746
Carpenter, J.E.
f93312e5-c5fc-4147-87cb-4cf28f0ea931
Chasman, D.I.
f960b71b-f13a-4176-9509-b6394cef455c
Chang-Claude, J.
148388a1-b116-4ebd-9d4a-190975ed0cfd
Chen, C.
ebea955a-5c35-4ccb-9431-9aafaa9fda78
Clavel-Chapelon, F.
fbcc4f41-7181-4db6-957a-dd9dcf293d68
Cox, A.
93ffb38c-ff07-4e67-9403-264a6f72265e
Cross, S.S.
cf8a6504-6a4c-4271-af29-f8cb6a3e27e5
Czene, K.
9b308876-2d09-4e8c-aa62-1be543a86b02
Deming, S.L.
03994d2a-5ac4-4405-b2c4-00b4f20222d6
Diasio, R.B.
e0e5b53b-2eef-4714-a723-b36df651d3fd
Diver, W.R.
56668cb9-249a-4f40-841b-c27e5dbd3804
Dunning, A.M.
1e319e8b-20d9-4032-ae08-cac48ff41786
Durcan, L.
bd059b41-9e77-4afe-b271-9ac4c91a05c6
Ekici, A.B.
44ca45c0-3a86-4a3d-9266-ef6c2b3007d3
Fasching, P.A.
27eebdb3-353a-435d-8859-c7d9002a0ef2
Feigelson, H.S.
cf1703b5-9e7f-4b25-8785-e901de9a218b
Fejerman, L.
cfe88069-9595-4e8e-87cd-bba3bbacfdc2
Figueroa, J.D.
496e68bc-fae0-4f74-b6ab-0af83eb8022c
Fletcher, O.
0219ba24-dbff-4dd1-8d5d-129e83e3d3a4
Flesch-Janys, D.
7ac33ddc-c333-49f5-91e7-cdbb3864854a
Gaudet, M.M.
b8c8f0fd-79c6-4e2e-8bb0-a5ac5081f137
Gerty, S.M.
b2013815-27c9-4a7d-ad42-071f60a8000f
Rodriguez-Gil, J.L.
4656d09c-cc1f-401e-a55a-53389d96fcf6
Giles, G.G.
0b0f152d-4def-473d-aa0f-6f1372f8b7a4
van Gils, C.H.
69fb9e9d-2a12-4f84-94c1-990b641483f0
Godwin, A.K.
7b6c036b-08f9-4447-8444-83e2a34e0fa2
Graham, N.
9b8ddc5c-19f9-400a-ba97-bb5afd7becac
Greco, D.
03179151-9551-4426-8f06-8f828f074640
Hall, P.
d94fc973-0aac-4c84-b8af-1601491aedf9
Hankinson, S.E.
8b92e475-f79e-45e9-8f6f-96752b858898
Hartmann, A.
761a0732-ad6a-4338-94b4-6ca9318bea3c
Hein, R.
a6d0a67b-b805-444f-93cf-3df365a2c198
Heinz, J.
efa54b6e-e361-4210-bbde-e4fb4ec0a60f
Hoover, R.N.
ca7535a5-ec09-4efb-92e2-2902eb6dd45f
Hopper, J.L.
4d03ec4a-627b-45e3-8c73-6bd2959ac47e
Hu, J.J.
f1ad7569-c5fb-4695-bacf-a88ab5af285b
Huntsman, S.
0988b3ac-52e9-4052-8ecd-4ef8b523daa6
Ingles, S.A.
bb1c2606-4871-47be-97e9-689bb30e7dbd
Irwanto, A.
32785563-740d-4b9a-83b2-1aadfc063dce
Isaacs, C.
e8a03aad-5b05-480e-96b3-d2e7dfb3e97e
Jacobs, K.B.
c433c325-aaae-465c-a226-7b5e69bddddd
John, E.M.
4d957667-9990-4e85-9537-8f406cdf11de
Justenhoven, C.
eaf3e7d2-fb81-4cb1-ba7a-41a0035cfe7c
Kaaks, R.
ed30975c-61f9-4ac2-9229-3975e4fc5c67
Kolonel, L.N.
3b89de15-767e-4abc-8920-3a46525885c9
Coetzee, G.A.
d0ce10a0-7b97-453c-9dbc-4ba0edfcc18f
Lathrop, M.
0f7b31bc-70e1-4121-ace6-0e676d4d8d5b
Le Marchand, L.
e02fe541-7847-474f-9e39-86bb63f2bb73
Lee, A.M.
b7a05220-1c96-4bf4-b1e2-8e03b1041823
Lee, I.-M.
58f3f877-8e4d-4a0e-868d-45982485d1a6
Lesnick, T.
b39911e1-f678-4729-abe5-3a7d4c35adae
Lichtner, P.
ffdf9416-d39b-40a0-abc4-1e409567ee8c
Liu, J.
516e902e-000e-4f9c-b9bc-bac18b1f5ade
Lund, E.
c663d217-9333-4b98-b59c-06c93cf4ba81
Makalic, E.
497c853c-3394-4adf-84b3-1bcf4f06ad55
Martin, N.G.
7a2b8289-2261-4da6-8b91-dd7b48981d1e
McLean, C.A.
cc4695b4-da35-4509-9e54-74df2ad9632a
Meijers-Heijboer, H.
49a7f98d-8d64-44d5-b1df-d6d28d442a2f
Meindl, A.
c4137854-f7f9-4726-92c8-c3e386ee363a
Miron, P.
812cc55f-46ba-409c-b153-7d7672720ff2
Monroe, K.R.
7c7da0c9-c0f7-4627-9e2f-7f879a6507e2
Montgomery, G.W.
c527c036-75e9-41f5-9b7d-ba85c0ec1f53
Muller-Myhsok, B.
8c0aad28-28a5-474d-9f40-b497ff033d29
Nickels, S.
f3b407da-f787-4d4d-a1c7-14a9d980dc9b
Nyante, S.J.
2dfecc81-7cbb-41da-aca0-0be5630e45f1
Olswold, C.
13661380-74ba-4086-8d63-afe9de269027
Overvad, K.
906a2697-0ee4-4afe-bf28-b8b131fae940
Palli, D.
63550cfd-9134-454b-8d2a-a2d5e6d6b1bc
Park, D.J.
effd56b4-ef78-4e67-8198-4059ecd26aae
Palmer, J.R.
d16c9cea-efeb-4641-b0f7-f2ba621a90a2
Pathak, H.
55e13f76-d56d-4fee-8598-a8d69b1a7cbf
Peto, J.
e6de4fa9-83fe-4cd8-8ade-00571799204d
Pharoah, P.
59a5f56d-1152-4b6d-8c1e-4007802e1bdb
Rahman, N.
6b59a4f8-b2c5-46a3-a660-66baab614029
Rivadeneira, F.
642dbd8d-88a9-469d-826c-b75280f5620d
Schmidt, D.F.
7945ef79-fbdd-491d-9909-6f599fa205d1
Schmutzler, R.K.
70d436d3-82ba-45dd-baaf-b97b8dda961f
Slager, S.
c0210a0d-cfc4-4094-bc21-0783e588b715
Southey, M.C.
8ec82634-3bcf-44e4-adb5-56b506a2607d
Stevens, K.N.
6e935135-d76b-4a9b-a756-79d6b5dee1a9
Sinn, H.-P.
f04fc77d-ddac-4133-8451-41e75f1e98b4
Press, M.F.
a7bd12de-8074-4d1e-8d40-8a3616de8ec8
Ross, E.
6ad7beff-bca3-4209-8a94-6c7b2a308a57
Riboli, E.
b23d8913-f6b0-49fc-8fcb-ef5d83d60741
Ridker, P.M.
21d0d00a-c22c-4707-8a22-f616fadd5676
Schumacher, F.R.
978e8dfd-fa24-46ee-985b-fc6263042d12
Severi, G.
d4b1d84e-10ef-4dd8-96a8-0b94d5215ad6
dos Santos Silva, I.
42f12121-59b8-4c3f-a429-ba7f8b6a5141
Stone, J.
4caf9f0c-2db1-44b5-97cd-eaaeb0668452
Sund, M.
f279c653-3662-4ed0-bda6-5009a259bf66
Tapper, W.J.
9d5ddc92-a8dd-4c78-ac67-c5867b62724c
Thun, M.J.
19a69e05-47f2-4303-9282-789603753552
Travis, R.C.
2ef08dda-9398-4f2e-a5f6-523aad00ce4b
Turnbull, C.
b24a936c-c216-44a3-83b8-1d1c54dfb1c6
Uitterlinden, A.G.
e15f45d4-cdaf-4d8e-9f77-38e4cddd3c5a
Waisfisz, Q.
a1665570-39ef-4c6f-99a4-0d1618ddb2eb
Wang, X.
43a1af58-225d-4b86-9026-0fecbc8daf03
Wang, Z.
8983928f-aca4-4b48-a71b-959646c6aa77
Weaver, J.
cabda2af-c893-4a90-a431-23d98288201e
Schulz-Wendtland, R.
51d1c613-3b84-432a-90f5-731f005d3495
Wilkens, L.R.
ae790795-3812-432a-a5d6-cf3732cf527a
Van Den Berg, D.
b9b6d7ba-2f9e-40d9-afcf-4e6eed094b05
Zheng, W.
1158fbd9-706d-4755-a934-e0300c538a2a
Ziegler, R.G.
fcad703c-1e34-4e5d-bffb-3ff995768ca1
Ziv, E.
3ea7dd31-cc26-4492-9100-d03aef7c3e66
Nevanlinna, H.
188d5d63-7183-49de-8721-242adee86703
Easton, D.F.
ef4b7694-86fa-4568-969f-d0ee512127fc
Hunter, D.J.
858ea3f1-f56d-4a1f-bac3-a82ca68e89e7
Henderson, B.E.
d48228ab-a5df-411f-9265-8d0086a2ede6
Chanock, S.J.
448f2ebe-33f1-4692-9c9f-92dc38e3612a
Garcia-Closas, M.
353b0a3c-e5dd-4a43-bd35-b22f6929cc58
Kraft, P.
b2c012f4-033b-4306-b07d-3d01746467ec
Haiman, C.A.
48ee70d8-7556-4bad-8d6a-3870a068fa0d
Vachon, C.M.
31f3ce8c-faac-44cf-972e-2c02aad99db4

Siddiq, A., Couch, F.J., Chen, G.K., Lindstrom, S., Eccles, D., Millikan, R.C., Michailidou, K., Stram, D.O., Beckmann, L., Rhie, S.K., Ambrosone, C.B., Aittomaki, K., Amiano, P., Apicella, C., Baglietto, L., Bandera, E.V., Beckmann, M.W., Berg, C.D., Bernstein, L., Blomqvist, C., Brauch, H., Brinton, L., Bui, Q.M., Buring, J.E., Buys, S.S., Campa, D., Carpenter, J.E., Chasman, D.I., Chang-Claude, J., Chen, C., Clavel-Chapelon, F., Cox, A., Cross, S.S., Czene, K., Deming, S.L., Diasio, R.B., Diver, W.R., Dunning, A.M., Durcan, L., Ekici, A.B., Fasching, P.A., Feigelson, H.S., Fejerman, L., Figueroa, J.D., Fletcher, O., Flesch-Janys, D., Gaudet, M.M., Gerty, S.M., Rodriguez-Gil, J.L., Giles, G.G., van Gils, C.H., Godwin, A.K., Graham, N., Greco, D., Hall, P., Hankinson, S.E., Hartmann, A., Hein, R., Heinz, J., Hoover, R.N., Hopper, J.L., Hu, J.J., Huntsman, S., Ingles, S.A., Irwanto, A., Isaacs, C., Jacobs, K.B., John, E.M., Justenhoven, C., Kaaks, R., Kolonel, L.N., Coetzee, G.A., Lathrop, M., Le Marchand, L., Lee, A.M., Lee, I.-M., Lesnick, T., Lichtner, P., Liu, J., Lund, E., Makalic, E., Martin, N.G., McLean, C.A., Meijers-Heijboer, H., Meindl, A., Miron, P., Monroe, K.R., Montgomery, G.W., Muller-Myhsok, B., Nickels, S., Nyante, S.J., Olswold, C., Overvad, K., Palli, D., Park, D.J., Palmer, J.R., Pathak, H., Peto, J., Pharoah, P., Rahman, N., Rivadeneira, F., Schmidt, D.F., Schmutzler, R.K., Slager, S., Southey, M.C., Stevens, K.N., Sinn, H.-P., Press, M.F., Ross, E., Riboli, E., Ridker, P.M., Schumacher, F.R., Severi, G., dos Santos Silva, I., Stone, J., Sund, M., Tapper, W.J., Thun, M.J., Travis, R.C., Turnbull, C., Uitterlinden, A.G., Waisfisz, Q., Wang, X., Wang, Z., Weaver, J., Schulz-Wendtland, R., Wilkens, L.R., Van Den Berg, D., Zheng, W., Ziegler, R.G., Ziv, E., Nevanlinna, H., Easton, D.F., Hunter, D.J., Henderson, B.E., Chanock, S.J., Garcia-Closas, M., Kraft, P., Haiman, C.A. and Vachon, C.M. (2012) A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Human Molecular Genetics, 21 (24), 5373-5384. (doi:10.1093/hmg/dds381). (PMID:22976474)

Record type: Article

Abstract

Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ? 1 × 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10(-8)) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10(-6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10(-9)), and with both ER-positive (OR = 1.09; P = 1.5 × 10(-5)) and ER-negative (OR = 1.16, P = 2.5 × 10(-7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.

Full text not available from this repository.

More information

Published date: 15 December 2012
Organisations: Cancer Sciences, Human Development & Health

Identifiers

Local EPrints ID: 352314
URI: https://eprints.soton.ac.uk/id/eprint/352314
PURE UUID: fb94571a-8a7c-40ea-8988-b6830b45169d

Catalogue record

Date deposited: 09 May 2013 11:47
Last modified: 16 Jul 2019 21:34

Export record

Altmetrics

Contributors

Author: A. Siddiq
Author: F.J. Couch
Author: G.K. Chen
Author: S. Lindstrom
Author: D. Eccles
Author: R.C. Millikan
Author: K. Michailidou
Author: D.O. Stram
Author: L. Beckmann
Author: S.K. Rhie
Author: C.B. Ambrosone
Author: K. Aittomaki
Author: P. Amiano
Author: C. Apicella
Author: L. Baglietto
Author: E.V. Bandera
Author: M.W. Beckmann
Author: C.D. Berg
Author: L. Bernstein
Author: C. Blomqvist
Author: H. Brauch
Author: L. Brinton
Author: Q.M. Bui
Author: J.E. Buring
Author: S.S. Buys
Author: D. Campa
Author: J.E. Carpenter
Author: D.I. Chasman
Author: J. Chang-Claude
Author: C. Chen
Author: F. Clavel-Chapelon
Author: A. Cox
Author: S.S. Cross
Author: K. Czene
Author: S.L. Deming
Author: R.B. Diasio
Author: W.R. Diver
Author: A.M. Dunning
Author: L. Durcan
Author: A.B. Ekici
Author: P.A. Fasching
Author: H.S. Feigelson
Author: L. Fejerman
Author: J.D. Figueroa
Author: O. Fletcher
Author: D. Flesch-Janys
Author: M.M. Gaudet
Author: S.M. Gerty
Author: J.L. Rodriguez-Gil
Author: G.G. Giles
Author: C.H. van Gils
Author: A.K. Godwin
Author: N. Graham
Author: D. Greco
Author: P. Hall
Author: S.E. Hankinson
Author: A. Hartmann
Author: R. Hein
Author: J. Heinz
Author: R.N. Hoover
Author: J.L. Hopper
Author: J.J. Hu
Author: S. Huntsman
Author: S.A. Ingles
Author: A. Irwanto
Author: C. Isaacs
Author: K.B. Jacobs
Author: E.M. John
Author: C. Justenhoven
Author: R. Kaaks
Author: L.N. Kolonel
Author: G.A. Coetzee
Author: M. Lathrop
Author: L. Le Marchand
Author: A.M. Lee
Author: I.-M. Lee
Author: T. Lesnick
Author: P. Lichtner
Author: J. Liu
Author: E. Lund
Author: E. Makalic
Author: N.G. Martin
Author: C.A. McLean
Author: H. Meijers-Heijboer
Author: A. Meindl
Author: P. Miron
Author: K.R. Monroe
Author: G.W. Montgomery
Author: B. Muller-Myhsok
Author: S. Nickels
Author: S.J. Nyante
Author: C. Olswold
Author: K. Overvad
Author: D. Palli
Author: D.J. Park
Author: J.R. Palmer
Author: H. Pathak
Author: J. Peto
Author: P. Pharoah
Author: N. Rahman
Author: F. Rivadeneira
Author: D.F. Schmidt
Author: R.K. Schmutzler
Author: S. Slager
Author: M.C. Southey
Author: K.N. Stevens
Author: H.-P. Sinn
Author: M.F. Press
Author: E. Ross
Author: E. Riboli
Author: P.M. Ridker
Author: F.R. Schumacher
Author: G. Severi
Author: I. dos Santos Silva
Author: J. Stone
Author: M. Sund
Author: W.J. Tapper
Author: M.J. Thun
Author: R.C. Travis
Author: C. Turnbull
Author: A.G. Uitterlinden
Author: Q. Waisfisz
Author: X. Wang
Author: Z. Wang
Author: J. Weaver
Author: R. Schulz-Wendtland
Author: L.R. Wilkens
Author: D. Van Den Berg
Author: W. Zheng
Author: R.G. Ziegler
Author: E. Ziv
Author: H. Nevanlinna
Author: D.F. Easton
Author: D.J. Hunter
Author: B.E. Henderson
Author: S.J. Chanock
Author: M. Garcia-Closas
Author: P. Kraft
Author: C.A. Haiman
Author: C.M. Vachon

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of https://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×