The University of Southampton
University of Southampton Institutional Repository

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

19p13.1 is a triple-negative-specific breast cancer susceptibility locus
19p13.1 is a triple-negative-specific breast cancer susceptibility locus
The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with the risk of ovarian cancer. Here, we investigated 19p13.1 variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05-1.15; P = 3.49 × 10(-5)] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13-1.31; P = 2.22 × 10(-7)). However, rs8170 was no longer associated with ER-negative breast cancer risk when triple-negative cases were excluded (OR, 0.98; 95% CI, 0.89-1.07; P = 0.62). In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18-1.33; P = 3.31 × 10(-13)]. Thus, 19p13.1 is the first triple-negative-specific breast cancer risk locus and the first locus specific to a histologic subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple-negative tumors and other subtypes likely arise through distinct etiologic pathways.
0008-5472
1795-1803
Stevens, K.N.
6e935135-d76b-4a9b-a756-79d6b5dee1a9
Fredericksen, Z.
eedd5682-8474-4db3-84c0-5c0d1b5df67d
Vachon, C.M.
31f3ce8c-faac-44cf-972e-2c02aad99db4
Wang, X.
43a1af58-225d-4b86-9026-0fecbc8daf03
Margolin, S.
dd1ba168-32de-49ca-88d1-5115d1e4a54e
Lindblom, A.
2b1d013c-5269-41e7-8a4d-42bfe63c2122
Nevanlinna, H.
188d5d63-7183-49de-8721-242adee86703
Greco, D.
03179151-9551-4426-8f06-8f828f074640
Aittomaki, K.
e95aceed-a267-41d7-8e61-adcf48bcf4ef
Blomqvist, C.
61aa59a2-9f7b-4f93-9984-8196c9a59384
Chang-Claude, J.
148388a1-b116-4ebd-9d4a-190975ed0cfd
Vrieling, A.
63bc0970-0da6-4a5a-ab08-b18cf10c7f0d
Flesch-Janys, D.
7ac33ddc-c333-49f5-91e7-cdbb3864854a
Sinn, H.-P.
f04fc77d-ddac-4133-8451-41e75f1e98b4
Wang-Gohrke, S.
6a847f11-ff76-418f-9f46-fd526a22c5a9
Nickels, S.
f3b407da-f787-4d4d-a1c7-14a9d980dc9b
Brauch, H.
7e94c1ce-69f5-4378-bff3-ad81f0bef189
Ko, Y.-D.
a15f61cd-faf2-49e3-aa33-4993a53841e5
Fischer, H.-P.
a898c345-0100-4ecb-999c-f3eb33bef9cd
Schmutzler, R.K.
70d436d3-82ba-45dd-baaf-b97b8dda961f
Meindl, A.
c4137854-f7f9-4726-92c8-c3e386ee363a
Bartram, C.R.
9e3f1b3c-3ae5-4118-af7a-ddcdc71bb6e7
Schott, S.
39a328ca-3839-4c07-93a0-106b517dd520
Engel, C.
5f9dc6a3-d1b7-4838-b18b-4a10062e25a9
Godwin, A.K.
7b6c036b-08f9-4447-8444-83e2a34e0fa2
Weaver, J.
cabda2af-c893-4a90-a431-23d98288201e
Pathak, H.B.
c4595291-f4c7-4214-a656-dfed3f6118c2
Sharma, P.
d5d7eb8e-e0f4-4538-89ec-fc57d76dab84
Brenner, H.
78d3df9b-bace-4b92-a9ec-6844b9ce0eaf
Muller, H.
ff4a9eb3-3362-43b2-99a7-5d9d3738103e
Arndt, V.
bc329164-4a27-4b88-a7ae-2a1cdf4b65fb
Stegmaier, C.
dee0abb5-f421-4109-81e0-bd0002b29b71
Miron, P.
812cc55f-46ba-409c-b153-7d7672720ff2
Yannoukakos, D.
f86310e3-d071-4e68-b2ea-3ca2a5142486
Stavropoulou, A.
79e26863-ab09-4365-9c7d-96fffd60f384
Fountzilas, G.
b02708f3-ea36-4aee-a7c7-7672ffed5a6c
Gogas, H. J.
41b4a705-2b7d-496e-b588-d873df14b1d1
Swann, R.
1e0adb56-24f2-4657-9bf3-44df2d687d04
Dwek, M.
8810a055-e42e-43aa-bcc0-76c3bb4f3598
Perkins, A.
1344e066-17d4-45a2-bb6f-5634eb95515b
Milne, R. L.
63dce265-60b2-4981-b87e-8bbdd4ebc44e
Benitez, J.
35bcb543-a973-4ac7-87b6-d77e1e1b5750
Zamora, M. P.
67b578e8-ae40-4859-998a-4e3b5a584978
Perez, J. I. A.
2a4eb259-6229-4ac0-8dcc-c5d54bbb4c86
Bojesen, S. E.
feb20583-e6f9-4ab0-a04f-1e100d55022b
Nielsen, S. F.
f54b51a2-90c6-4247-b6f5-f3f3f192487a
Nordestgaard, B. G.
388d2052-711b-4339-be9e-c3140f5b9624
Flyger, H.
430415fc-8adf-4240-a4d1-0c20f24596b1
Guenel, P.
3318c8b2-dc6b-4234-81ca-5f07dc2e4d68
Truong, T.
994ebd46-0c38-4f1b-a4c5-2cdd486f893c
Menegaux, F.
c96d96a1-17a6-4e24-a089-679d8ef10912
Cordina-Duverger, E.
8c9325cd-3459-478e-ae92-959a2da330aa
Burwinkel, B.
1b5e10f0-9f84-4bd4-939b-1d8531776cd0
Marme, F.
63f33b09-0947-4e7a-bb8d-76908354a722
Schneeweiss, A.
816b1cc9-b97f-4696-8458-4f8cfca7b0ea
Sohn, C.
1b26b095-866a-41de-84f6-817494fd9cd0
Sawyer, E.
e3ad320a-b2c4-4abf-802f-744ab07a65bc
Tomlinson, I.
5e8c5461-1b79-42f8-b0ab-14453f114efb
Kerin, M. J.
be318953-d872-44f1-9074-21cdd0b3ad94
Peto, J.
e6de4fa9-83fe-4cd8-8ade-00571799204d
Johnson, N.
257d69be-33a5-4967-bdc9-3a5e46f2ba26
Fletcher, O.
0219ba24-dbff-4dd1-8d5d-129e83e3d3a4
dos Santos Silva, I.
42f12121-59b8-4c3f-a429-ba7f8b6a5141
Fasching, P. A.
d54b8862-9519-436d-bcdb-13bab87ebb69
Beckmann, M. W.
b5aa1926-561f-4966-8bf2-257fdacb3dc4
Hartmann, A.
761a0732-ad6a-4338-94b4-6ca9318bea3c
Ekici, A. B.
44ca45c0-3a86-4a3d-9266-ef6c2b3007d3
Lophatananon, A.
aefa71ee-2411-4a9a-9cf7-f9ebb2c54163
Muir, K.
a3be1170-ce70-43b9-b162-c3a6d055f2c2
Puttawibul, P.
13ace978-6a73-4eb8-bd0a-5ddf6413eea0
Wiangnon, S.
bb837241-6378-488f-a108-ab32aa0f896b
Schmidt, M. K.
c4564613-88ce-48b2-bb1a-23635c519278
Broeks, A.
dda256be-4779-41c6-8b70-529486489812
Braaf, L. M.
511866c0-41ee-463d-99b0-063b35f2ea40
Rosenberg, E. H.
d397a846-a7c3-4182-ba1d-6c3065897a4f
Hopper, J. L.
ce499d41-c83f-45ef-87a4-4c12ce2361bc
Apicella, C.
cd20d4e9-1a92-4e89-bc85-57a4017d4506
Park, D. J.
fd4f6143-cbdf-44c4-8bc0-9869e59fce8d
Southey, M. C.
a958b7e8-67a3-4b31-92f8-47afe4270f30
Swerdlow, A. J.
b32fe09f-d5e3-444f-a731-ae82eed2f281
Ashworth, A.
298ff6ed-9870-42da-8e6d-d9980308296d
Orr, N.
3457326f-252f-46f4-9337-bdad72244646
Schoemaker, M. J.
76f8e2cb-53fd-452e-bd15-f5f80ede5e62
Anton-Culver, H.
1345d981-57f4-410d-ae28-19a994468b3b
Ziogas, A.
807fa7a0-ed7a-4305-be9b-9c46a33cefa9
Bernstein, L.
d418c0aa-7260-4c6b-805b-5252f8d0da06
Dur, C. C.
261ee3d0-342e-4335-b777-2fab8461886f
Shen, C.-Y.
47dd6f73-efb1-46f5-8a4a-8d629cf5ac31
Yu, J.-C.
e4803c94-be65-4023-a32d-af526b97abc4
Hsu, H.-M.
f5eff1ed-0a53-4885-b601-77468ec3cc63
Hsiung, C.-N.
0b24cffa-5b61-4723-a7da-30a4958946a0
Hamann, U.
de046fb2-54f3-48b8-9971-0b64c4bbdf69
Dunnebier, T.
d7954ddc-0e95-4bcc-9812-23fa4f623569
Rudiger, T.
d0c821e5-ac8e-4571-9945-c55c2dcaf431
Ulmer, H. U.
3ad6ee71-5091-4844-9c7f-54d5648a16e0
Pharoah, P. P.
92525639-23b2-4cfc-9cf4-25dcff2c887d
Dunning, A. M.
4e0c56ee-bef0-481d-8fe8-69a8381b53fc
Humphreys, M. K.
fbb09e18-cb13-410a-b039-9d16b6d39818
Wang, Q.
55f8a112-bd52-4444-a5ba-88f920bd9a75
Cox, A.
93ffb38c-ff07-4e67-9403-264a6f72265e
Cross, S. S.
5d7f85e3-ca83-4732-8cef-5c3ef2ce043b
Reed, M. W.
6bc2148d-7f20-4986-b17c-b1749dcf46de
Hall, P.
d94fc973-0aac-4c84-b8af-1601491aedf9
Czene, K.
9b308876-2d09-4e8c-aa62-1be543a86b02
Ambrosone, C. B.
91555721-45ae-46e0-a9fb-811afdb381f8
Ademuyiwa, F.
1346cd06-6dd1-415b-8d85-43a71ad7467b
Hwang, H.
c5465c65-2884-432f-9e02-660768358403
Eccles, D. M.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Garcia-Closas, M.
353b0a3c-e5dd-4a43-bd35-b22f6929cc58
Figueroa, J. D.
b1a6a972-a16b-4d7b-8a6c-9e767bbe360c
Sherman, M. E.
8032e5ac-d652-4f5a-8aee-e3d44fc152ca
Lissowska, J.
9030ebc1-d64f-4fc3-ad57-eac21fc66826
Devilee, P.
ff9a4cb2-909d-4493-8116-919e285112a3
Seynaeve, C.
a41d8db1-dc88-483d-b182-41280d97b080
Tollenaar, R. A. E. M.
f04e62eb-3ff7-4625-aa0f-727b039f077e
Hooning, M. J.
47a0cc98-79fd-486d-aaff-8bede63842c6
Andrulis, I. L.
927bda20-b6a1-445f-a681-6b533482b2c9
Knight, J. A.
bcd2446c-e42d-41a7-b4c5-2f9cf10fe9e0
Glendon, G.
82c646d3-18eb-4662-b6e2-6db2e521922f
Mulligan, A. M.
5fd6a62f-27cd-4b97-a5c6-a0532fea13ae
Winqvist, R.
8a2923e0-14b2-4add-b2e8-4c8d1a561ec4
Pylkas, K.
9ca67806-e695-4375-af97-fdc5c71c75eb
Jukkola-Vuorinen, A.
558291a6-0a8c-4882-abc3-6de9cc8b64f5
Grip, M.
0497bb5b-c102-4dcf-ba95-75fe30781e47
John, E. M.
73e9eaed-2b31-42eb-9d31-2a5518d04cb6
Miron, A.
d383a52c-5f48-477e-a901-337c3e615b79
Alnaes, G. G.
04acc295-9372-44a9-9dfd-f13bbec408a8
Kristensen, V.
9bc706ef-a3f1-4718-8013-0a09cbd7fb98
Borresen-Dale, A.-L.
e43ced24-fb47-4eea-8d8e-bc9ebd959acf
Giles, G. G.
5c512097-d461-4c69-b2fb-cd64a278695d
Baglietto, L.
8fbc734a-b47b-4ee9-bee6-23210ae126dd
McLean, C. A.
6fef8a40-1702-4cca-8461-baf507b4851c
Severi, G.
d4b1d84e-10ef-4dd8-96a8-0b94d5215ad6
Kosel, M. L.
14160606-a188-4b9b-a6ee-b78a42d1e356
Pankratz, V. S.
0faf1351-f6c1-45ea-940a-8394e6dfe9ab
Slager, S.
c0210a0d-cfc4-4094-bc21-0783e588b715
Olson, J. E.
b8b1da20-fcd3-4232-a214-aa4eae2c92d4
Radice, P.
a7f1a7a5-ba5f-4c21-8fa7-b394a5b5d8b9
Peterlongo, P.
12acdcae-0baa-495d-946e-cd88cfc9117b
Manoukian, S.
811c6f96-2a85-4318-a752-cc3b7ec3d2fd
Barile, M.
ad115714-f579-49a5-b522-dfe7be9e6d56
Lambrechts, D.
0f6f53b4-8e06-4003-946f-23a7c1794d54
Hatse, S.
5cd088c1-04ea-49c9-a829-6c1a0daa1aed
Dieudonne, A.-S.
c4673972-6cf0-4729-8a78-58b3e58ed358
Christiaens, M.-R.
407b6a0a-73d8-4720-bb6b-628506182fb8
Chenevix-Trench, G.
e90da721-7c34-4695-902f-34496a53526f
Beesley, J.
655108ba-3fe1-4282-956c-517e5c00d484
Chen, X.
85aae54c-5fcc-444c-9024-d4587aa2c4eb
Mannermaa, A.
2992b34b-25b9-42e9-b45e-cf3adf51ea02
Kosma, V.-M.
0b046d38-4ae5-4994-8d31-a00a7cc6a912
Hartikainen, J. M.
835a5e33-b6b1-4036-b969-e5fce0d9ea96
Soini, Y.
c08ebe03-80bb-4d84-b6e8-60bf64098b15
Easton, D. F.
28e13aa5-f607-473b-8ed7-b0d33424fdbb
Couch, F. J.
06b38866-1225-44d9-a835-93d11ca4ab88
Stevens, K.N.
6e935135-d76b-4a9b-a756-79d6b5dee1a9
Fredericksen, Z.
eedd5682-8474-4db3-84c0-5c0d1b5df67d
Vachon, C.M.
31f3ce8c-faac-44cf-972e-2c02aad99db4
Wang, X.
43a1af58-225d-4b86-9026-0fecbc8daf03
Margolin, S.
dd1ba168-32de-49ca-88d1-5115d1e4a54e
Lindblom, A.
2b1d013c-5269-41e7-8a4d-42bfe63c2122
Nevanlinna, H.
188d5d63-7183-49de-8721-242adee86703
Greco, D.
03179151-9551-4426-8f06-8f828f074640
Aittomaki, K.
e95aceed-a267-41d7-8e61-adcf48bcf4ef
Blomqvist, C.
61aa59a2-9f7b-4f93-9984-8196c9a59384
Chang-Claude, J.
148388a1-b116-4ebd-9d4a-190975ed0cfd
Vrieling, A.
63bc0970-0da6-4a5a-ab08-b18cf10c7f0d
Flesch-Janys, D.
7ac33ddc-c333-49f5-91e7-cdbb3864854a
Sinn, H.-P.
f04fc77d-ddac-4133-8451-41e75f1e98b4
Wang-Gohrke, S.
6a847f11-ff76-418f-9f46-fd526a22c5a9
Nickels, S.
f3b407da-f787-4d4d-a1c7-14a9d980dc9b
Brauch, H.
7e94c1ce-69f5-4378-bff3-ad81f0bef189
Ko, Y.-D.
a15f61cd-faf2-49e3-aa33-4993a53841e5
Fischer, H.-P.
a898c345-0100-4ecb-999c-f3eb33bef9cd
Schmutzler, R.K.
70d436d3-82ba-45dd-baaf-b97b8dda961f
Meindl, A.
c4137854-f7f9-4726-92c8-c3e386ee363a
Bartram, C.R.
9e3f1b3c-3ae5-4118-af7a-ddcdc71bb6e7
Schott, S.
39a328ca-3839-4c07-93a0-106b517dd520
Engel, C.
5f9dc6a3-d1b7-4838-b18b-4a10062e25a9
Godwin, A.K.
7b6c036b-08f9-4447-8444-83e2a34e0fa2
Weaver, J.
cabda2af-c893-4a90-a431-23d98288201e
Pathak, H.B.
c4595291-f4c7-4214-a656-dfed3f6118c2
Sharma, P.
d5d7eb8e-e0f4-4538-89ec-fc57d76dab84
Brenner, H.
78d3df9b-bace-4b92-a9ec-6844b9ce0eaf
Muller, H.
ff4a9eb3-3362-43b2-99a7-5d9d3738103e
Arndt, V.
bc329164-4a27-4b88-a7ae-2a1cdf4b65fb
Stegmaier, C.
dee0abb5-f421-4109-81e0-bd0002b29b71
Miron, P.
812cc55f-46ba-409c-b153-7d7672720ff2
Yannoukakos, D.
f86310e3-d071-4e68-b2ea-3ca2a5142486
Stavropoulou, A.
79e26863-ab09-4365-9c7d-96fffd60f384
Fountzilas, G.
b02708f3-ea36-4aee-a7c7-7672ffed5a6c
Gogas, H. J.
41b4a705-2b7d-496e-b588-d873df14b1d1
Swann, R.
1e0adb56-24f2-4657-9bf3-44df2d687d04
Dwek, M.
8810a055-e42e-43aa-bcc0-76c3bb4f3598
Perkins, A.
1344e066-17d4-45a2-bb6f-5634eb95515b
Milne, R. L.
63dce265-60b2-4981-b87e-8bbdd4ebc44e
Benitez, J.
35bcb543-a973-4ac7-87b6-d77e1e1b5750
Zamora, M. P.
67b578e8-ae40-4859-998a-4e3b5a584978
Perez, J. I. A.
2a4eb259-6229-4ac0-8dcc-c5d54bbb4c86
Bojesen, S. E.
feb20583-e6f9-4ab0-a04f-1e100d55022b
Nielsen, S. F.
f54b51a2-90c6-4247-b6f5-f3f3f192487a
Nordestgaard, B. G.
388d2052-711b-4339-be9e-c3140f5b9624
Flyger, H.
430415fc-8adf-4240-a4d1-0c20f24596b1
Guenel, P.
3318c8b2-dc6b-4234-81ca-5f07dc2e4d68
Truong, T.
994ebd46-0c38-4f1b-a4c5-2cdd486f893c
Menegaux, F.
c96d96a1-17a6-4e24-a089-679d8ef10912
Cordina-Duverger, E.
8c9325cd-3459-478e-ae92-959a2da330aa
Burwinkel, B.
1b5e10f0-9f84-4bd4-939b-1d8531776cd0
Marme, F.
63f33b09-0947-4e7a-bb8d-76908354a722
Schneeweiss, A.
816b1cc9-b97f-4696-8458-4f8cfca7b0ea
Sohn, C.
1b26b095-866a-41de-84f6-817494fd9cd0
Sawyer, E.
e3ad320a-b2c4-4abf-802f-744ab07a65bc
Tomlinson, I.
5e8c5461-1b79-42f8-b0ab-14453f114efb
Kerin, M. J.
be318953-d872-44f1-9074-21cdd0b3ad94
Peto, J.
e6de4fa9-83fe-4cd8-8ade-00571799204d
Johnson, N.
257d69be-33a5-4967-bdc9-3a5e46f2ba26
Fletcher, O.
0219ba24-dbff-4dd1-8d5d-129e83e3d3a4
dos Santos Silva, I.
42f12121-59b8-4c3f-a429-ba7f8b6a5141
Fasching, P. A.
d54b8862-9519-436d-bcdb-13bab87ebb69
Beckmann, M. W.
b5aa1926-561f-4966-8bf2-257fdacb3dc4
Hartmann, A.
761a0732-ad6a-4338-94b4-6ca9318bea3c
Ekici, A. B.
44ca45c0-3a86-4a3d-9266-ef6c2b3007d3
Lophatananon, A.
aefa71ee-2411-4a9a-9cf7-f9ebb2c54163
Muir, K.
a3be1170-ce70-43b9-b162-c3a6d055f2c2
Puttawibul, P.
13ace978-6a73-4eb8-bd0a-5ddf6413eea0
Wiangnon, S.
bb837241-6378-488f-a108-ab32aa0f896b
Schmidt, M. K.
c4564613-88ce-48b2-bb1a-23635c519278
Broeks, A.
dda256be-4779-41c6-8b70-529486489812
Braaf, L. M.
511866c0-41ee-463d-99b0-063b35f2ea40
Rosenberg, E. H.
d397a846-a7c3-4182-ba1d-6c3065897a4f
Hopper, J. L.
ce499d41-c83f-45ef-87a4-4c12ce2361bc
Apicella, C.
cd20d4e9-1a92-4e89-bc85-57a4017d4506
Park, D. J.
fd4f6143-cbdf-44c4-8bc0-9869e59fce8d
Southey, M. C.
a958b7e8-67a3-4b31-92f8-47afe4270f30
Swerdlow, A. J.
b32fe09f-d5e3-444f-a731-ae82eed2f281
Ashworth, A.
298ff6ed-9870-42da-8e6d-d9980308296d
Orr, N.
3457326f-252f-46f4-9337-bdad72244646
Schoemaker, M. J.
76f8e2cb-53fd-452e-bd15-f5f80ede5e62
Anton-Culver, H.
1345d981-57f4-410d-ae28-19a994468b3b
Ziogas, A.
807fa7a0-ed7a-4305-be9b-9c46a33cefa9
Bernstein, L.
d418c0aa-7260-4c6b-805b-5252f8d0da06
Dur, C. C.
261ee3d0-342e-4335-b777-2fab8461886f
Shen, C.-Y.
47dd6f73-efb1-46f5-8a4a-8d629cf5ac31
Yu, J.-C.
e4803c94-be65-4023-a32d-af526b97abc4
Hsu, H.-M.
f5eff1ed-0a53-4885-b601-77468ec3cc63
Hsiung, C.-N.
0b24cffa-5b61-4723-a7da-30a4958946a0
Hamann, U.
de046fb2-54f3-48b8-9971-0b64c4bbdf69
Dunnebier, T.
d7954ddc-0e95-4bcc-9812-23fa4f623569
Rudiger, T.
d0c821e5-ac8e-4571-9945-c55c2dcaf431
Ulmer, H. U.
3ad6ee71-5091-4844-9c7f-54d5648a16e0
Pharoah, P. P.
92525639-23b2-4cfc-9cf4-25dcff2c887d
Dunning, A. M.
4e0c56ee-bef0-481d-8fe8-69a8381b53fc
Humphreys, M. K.
fbb09e18-cb13-410a-b039-9d16b6d39818
Wang, Q.
55f8a112-bd52-4444-a5ba-88f920bd9a75
Cox, A.
93ffb38c-ff07-4e67-9403-264a6f72265e
Cross, S. S.
5d7f85e3-ca83-4732-8cef-5c3ef2ce043b
Reed, M. W.
6bc2148d-7f20-4986-b17c-b1749dcf46de
Hall, P.
d94fc973-0aac-4c84-b8af-1601491aedf9
Czene, K.
9b308876-2d09-4e8c-aa62-1be543a86b02
Ambrosone, C. B.
91555721-45ae-46e0-a9fb-811afdb381f8
Ademuyiwa, F.
1346cd06-6dd1-415b-8d85-43a71ad7467b
Hwang, H.
c5465c65-2884-432f-9e02-660768358403
Eccles, D. M.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Garcia-Closas, M.
353b0a3c-e5dd-4a43-bd35-b22f6929cc58
Figueroa, J. D.
b1a6a972-a16b-4d7b-8a6c-9e767bbe360c
Sherman, M. E.
8032e5ac-d652-4f5a-8aee-e3d44fc152ca
Lissowska, J.
9030ebc1-d64f-4fc3-ad57-eac21fc66826
Devilee, P.
ff9a4cb2-909d-4493-8116-919e285112a3
Seynaeve, C.
a41d8db1-dc88-483d-b182-41280d97b080
Tollenaar, R. A. E. M.
f04e62eb-3ff7-4625-aa0f-727b039f077e
Hooning, M. J.
47a0cc98-79fd-486d-aaff-8bede63842c6
Andrulis, I. L.
927bda20-b6a1-445f-a681-6b533482b2c9
Knight, J. A.
bcd2446c-e42d-41a7-b4c5-2f9cf10fe9e0
Glendon, G.
82c646d3-18eb-4662-b6e2-6db2e521922f
Mulligan, A. M.
5fd6a62f-27cd-4b97-a5c6-a0532fea13ae
Winqvist, R.
8a2923e0-14b2-4add-b2e8-4c8d1a561ec4
Pylkas, K.
9ca67806-e695-4375-af97-fdc5c71c75eb
Jukkola-Vuorinen, A.
558291a6-0a8c-4882-abc3-6de9cc8b64f5
Grip, M.
0497bb5b-c102-4dcf-ba95-75fe30781e47
John, E. M.
73e9eaed-2b31-42eb-9d31-2a5518d04cb6
Miron, A.
d383a52c-5f48-477e-a901-337c3e615b79
Alnaes, G. G.
04acc295-9372-44a9-9dfd-f13bbec408a8
Kristensen, V.
9bc706ef-a3f1-4718-8013-0a09cbd7fb98
Borresen-Dale, A.-L.
e43ced24-fb47-4eea-8d8e-bc9ebd959acf
Giles, G. G.
5c512097-d461-4c69-b2fb-cd64a278695d
Baglietto, L.
8fbc734a-b47b-4ee9-bee6-23210ae126dd
McLean, C. A.
6fef8a40-1702-4cca-8461-baf507b4851c
Severi, G.
d4b1d84e-10ef-4dd8-96a8-0b94d5215ad6
Kosel, M. L.
14160606-a188-4b9b-a6ee-b78a42d1e356
Pankratz, V. S.
0faf1351-f6c1-45ea-940a-8394e6dfe9ab
Slager, S.
c0210a0d-cfc4-4094-bc21-0783e588b715
Olson, J. E.
b8b1da20-fcd3-4232-a214-aa4eae2c92d4
Radice, P.
a7f1a7a5-ba5f-4c21-8fa7-b394a5b5d8b9
Peterlongo, P.
12acdcae-0baa-495d-946e-cd88cfc9117b
Manoukian, S.
811c6f96-2a85-4318-a752-cc3b7ec3d2fd
Barile, M.
ad115714-f579-49a5-b522-dfe7be9e6d56
Lambrechts, D.
0f6f53b4-8e06-4003-946f-23a7c1794d54
Hatse, S.
5cd088c1-04ea-49c9-a829-6c1a0daa1aed
Dieudonne, A.-S.
c4673972-6cf0-4729-8a78-58b3e58ed358
Christiaens, M.-R.
407b6a0a-73d8-4720-bb6b-628506182fb8
Chenevix-Trench, G.
e90da721-7c34-4695-902f-34496a53526f
Beesley, J.
655108ba-3fe1-4282-956c-517e5c00d484
Chen, X.
85aae54c-5fcc-444c-9024-d4587aa2c4eb
Mannermaa, A.
2992b34b-25b9-42e9-b45e-cf3adf51ea02
Kosma, V.-M.
0b046d38-4ae5-4994-8d31-a00a7cc6a912
Hartikainen, J. M.
835a5e33-b6b1-4036-b969-e5fce0d9ea96
Soini, Y.
c08ebe03-80bb-4d84-b6e8-60bf64098b15
Easton, D. F.
28e13aa5-f607-473b-8ed7-b0d33424fdbb
Couch, F. J.
06b38866-1225-44d9-a835-93d11ca4ab88

Stevens, K.N., Fredericksen, Z. and Vachon, C.M. et al. (2012) 19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Research, 72 (7), 1795-1803. (doi:10.1158/0008-5472.CAN-11-3364). (PMID:22331459)

Record type: Article

Abstract

The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with the risk of ovarian cancer. Here, we investigated 19p13.1 variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05-1.15; P = 3.49 × 10(-5)] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13-1.31; P = 2.22 × 10(-7)). However, rs8170 was no longer associated with ER-negative breast cancer risk when triple-negative cases were excluded (OR, 0.98; 95% CI, 0.89-1.07; P = 0.62). In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18-1.33; P = 3.31 × 10(-13)]. Thus, 19p13.1 is the first triple-negative-specific breast cancer risk locus and the first locus specific to a histologic subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple-negative tumors and other subtypes likely arise through distinct etiologic pathways.

Full text not available from this repository.

More information

Accepted/In Press date: 19 January 2012
e-pub ahead of print date: 13 February 2012
Published date: 1 April 2012
Organisations: Cancer Sciences

Identifiers

Local EPrints ID: 383030
URI: https://eprints.soton.ac.uk/id/eprint/383030
ISSN: 0008-5472
PURE UUID: 2efde8a0-9a11-45c4-9f71-4e9ffd2fa926

Catalogue record

Date deposited: 19 Oct 2015 09:38
Last modified: 04 Dec 2017 17:31

Export record

Altmetrics

Contributors

Author: K.N. Stevens
Author: Z. Fredericksen
Author: C.M. Vachon
Author: X. Wang
Author: S. Margolin
Author: A. Lindblom
Author: H. Nevanlinna
Author: D. Greco
Author: K. Aittomaki
Author: C. Blomqvist
Author: J. Chang-Claude
Author: A. Vrieling
Author: D. Flesch-Janys
Author: H.-P. Sinn
Author: S. Wang-Gohrke
Author: S. Nickels
Author: H. Brauch
Author: Y.-D. Ko
Author: H.-P. Fischer
Author: R.K. Schmutzler
Author: A. Meindl
Author: C.R. Bartram
Author: S. Schott
Author: C. Engel
Author: A.K. Godwin
Author: J. Weaver
Author: H.B. Pathak
Author: P. Sharma
Author: H. Brenner
Author: H. Muller
Author: V. Arndt
Author: C. Stegmaier
Author: P. Miron
Author: D. Yannoukakos
Author: A. Stavropoulou
Author: G. Fountzilas
Author: H. J. Gogas
Author: R. Swann
Author: M. Dwek
Author: A. Perkins
Author: R. L. Milne
Author: J. Benitez
Author: M. P. Zamora
Author: J. I. A. Perez
Author: S. E. Bojesen
Author: S. F. Nielsen
Author: B. G. Nordestgaard
Author: H. Flyger
Author: P. Guenel
Author: T. Truong
Author: F. Menegaux
Author: E. Cordina-Duverger
Author: B. Burwinkel
Author: F. Marme
Author: A. Schneeweiss
Author: C. Sohn
Author: E. Sawyer
Author: I. Tomlinson
Author: M. J. Kerin
Author: J. Peto
Author: N. Johnson
Author: O. Fletcher
Author: I. dos Santos Silva
Author: P. A. Fasching
Author: M. W. Beckmann
Author: A. Hartmann
Author: A. B. Ekici
Author: A. Lophatananon
Author: K. Muir
Author: P. Puttawibul
Author: S. Wiangnon
Author: M. K. Schmidt
Author: A. Broeks
Author: L. M. Braaf
Author: E. H. Rosenberg
Author: J. L. Hopper
Author: C. Apicella
Author: D. J. Park
Author: M. C. Southey
Author: A. J. Swerdlow
Author: A. Ashworth
Author: N. Orr
Author: M. J. Schoemaker
Author: H. Anton-Culver
Author: A. Ziogas
Author: L. Bernstein
Author: C. C. Dur
Author: C.-Y. Shen
Author: J.-C. Yu
Author: H.-M. Hsu
Author: C.-N. Hsiung
Author: U. Hamann
Author: T. Dunnebier
Author: T. Rudiger
Author: H. U. Ulmer
Author: P. P. Pharoah
Author: A. M. Dunning
Author: M. K. Humphreys
Author: Q. Wang
Author: A. Cox
Author: S. S. Cross
Author: M. W. Reed
Author: P. Hall
Author: K. Czene
Author: C. B. Ambrosone
Author: F. Ademuyiwa
Author: H. Hwang
Author: D. M. Eccles
Author: M. Garcia-Closas
Author: J. D. Figueroa
Author: M. E. Sherman
Author: J. Lissowska
Author: P. Devilee
Author: C. Seynaeve
Author: R. A. E. M. Tollenaar
Author: M. J. Hooning
Author: I. L. Andrulis
Author: J. A. Knight
Author: G. Glendon
Author: A. M. Mulligan
Author: R. Winqvist
Author: K. Pylkas
Author: A. Jukkola-Vuorinen
Author: M. Grip
Author: E. M. John
Author: A. Miron
Author: G. G. Alnaes
Author: V. Kristensen
Author: A.-L. Borresen-Dale
Author: G. G. Giles
Author: L. Baglietto
Author: C. A. McLean
Author: G. Severi
Author: M. L. Kosel
Author: V. S. Pankratz
Author: S. Slager
Author: J. E. Olson
Author: P. Radice
Author: P. Peterlongo
Author: S. Manoukian
Author: M. Barile
Author: D. Lambrechts
Author: S. Hatse
Author: A.-S. Dieudonne
Author: M.-R. Christiaens
Author: G. Chenevix-Trench
Author: J. Beesley
Author: X. Chen
Author: A. Mannermaa
Author: V.-M. Kosma
Author: J. M. Hartikainen
Author: Y. Soini
Author: D. F. Easton
Author: F. J. Couch

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.

×