Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Garcia-Closas M., Couch F.J., Lindstrom S., Michailidou K., Schmidt M.K., Brook M.N., Orr N., Rhie S.K., Riboli E., Feigelson H.S., Le Marchand L., Buring J.E., Eccles D., Miron P., Fasching P.A., Brauch H., Chang-Claude J., Carpenter J., Godwin A.K., Nevanlinna H., Giles G.G., Cox A., Hopper J.L., Bolla M.K., Wang Q., Dennis J., Dicks E., Howat W.J., Schoof N., Bojesen S.E., Lambrechts D., Broeks A., Andrulis I.L., Guenel P., Burwinkel B., Sawyer E.J., Hollestelle A., Fletcher O., Winqvist R., Brenner H., Mannermaa A., Hamann U., Meindl A., Lindblom A., Zheng W., Devillee P., Goldberg M.S., Lubinski J., Kristensen V., Swerdlow A., Anton-Culver H., Dork T., Muir K., Matsuo K., Wu A.H., Radice P., Teo S.H., Shu X.-O., Blot W., Kang D., Hartman M., Sangrajrang S., Shen C.-Y., Southey M.C., Park D.J., Hammet F., Stone J., Veer L.J.V., Rutgers E.J., Lophatananon A., Stewart-Brown S., Siriwanarangsan P., Peto J., Schrauder M.G., Ekici A.B., Beckmann M.W., Dos Santos Silva I., Johnson N., Warren H., Tomlinson I., Kerin M.J., Miller N., Marme F., Schneeweiss A., Sohn C., Truong T., Laurent-Puig P., Kerbrat P., Nordestgaard Bo.G., Nielsen S.F., Flyger H., Milne R.L., Perez J.I.A., Menendez P., Muller H., Arndt V., Stegmaier C., Lichtner P., Lochmann M., Justenhoven C., Ko Y.-D., Muranen T.A., Aittomaki K., Blomqvist C., Greco D., Heikkinen T., Ito H., Iwata H., Yatabe Y., Antonenkova N.N., Margolin S., Kataja V., Kosma V.-M., Hartikainen J.M., Balleine R., Tseng C.-C., Berg D.V.D., Stram D.O., Neven P., Dieudonne A.-S., Leunen K., Rudolph A., Nickels S., Flesch-Janys D., Peterlongo P., Peissel B., Bernard L., Olson J.E., Wang X., Stevens K., Severi G., Baglietto L., McLean C., Coetzee G.A., Feng Y., Henderson B.E., Schumacher F., Bogdanova N.V., Labreche F., Dumont M., Yip C.H., Taib N.A.M., Cheng C.-Y., Shrubsole M., Long J., Pylkas K., Jukkola-Vuorinen A., Kauppila S., Knight J.A., Glendon G., Mulligan A.M., Tollenaar R.A.E.M., Seynaeve C.M., Kriege M., Hooning M.J., Van Den Ouweland A.M.W., Van Deurzen C.H.M., Lu W., Gao Y.-T., Cai H., Balasubramanian S.P., Cross S.S., Reed M.W.R., Signorello L., Cai Q., Shah M., Miao H., Chan C.W., Chia K.S., Jakubowska A., Jaworska K., Durda K., Hsiung C.-N., Wu P.-E., Yu J.-C., Ashworth A., Jones M., Tessier D.C., Gonzalez-Neira A., Pita G., Alonso M.R., Vincent D., Bacot F., Ambrosone C.B., Bandera E.V., John E.M., Chen G.K., Hu J.J., Rodriguez-Gil J.L., Bernstein L., Press M.F., Ziegler R.G., Millikan R.M., Deming-Halverson S.L., Nyante S., Ingles S.A., Waisfisz Q., Tsimiklis H., Makalic E., Schmidt D., Bui M., Gibson L., Muller-Myhsok B., Schmutzler R.K., Hein R., Dahmen N., Beckmann L., Aaltonen K., Czene K., Irwanto A., Liu J., Turnbull C., Rahman N., Meijers-Heijboer H., Uitterlinden A.G., Rivadeneira F., Olswold C., Slager S., Pilarski R., Ademuyiwa F., Konstantopoulou I., Martin N.G., Montgomery G.W., Slamon D.J., Rauh C., Lux M.P., Jud S.M., Bruning T., Weaver J., Sharma P., Pathak H., Tapper W., Gerty S., Durcan L., Trichopoulos D., Tumino R., Peeters P.H., Kaaks R., Campa D., Canzian F., Weiderpass E., Johansson M., Khaw K.-T., Travis R., Clavel-Chapelon F., Kolonel L.N., Chen C., Beck A., Hankinson S.E., Berg C.D., Hoover R.N., Lissowska J., Figueroa J.D., Chasman D.I., Gaudet M.M., Diver W.R., Willett W.C., Hunter D.J., Simard J., Benitez J., Dunning A.M., Sherman M.E., Chenevix-Trench G., Chanock S.J., Hall P., Pharoah P.D.P., Vachon C., Easton D.F., Haiman C.A. and Kraft P. (2013) Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nature Genetics, 45 4: 392-398. doi:10.1038/ng.2561

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Author Garcia-Closas M.
Couch F.J.
Lindstrom S.
Michailidou K.
Schmidt M.K.
Brook M.N.
Orr N.
Rhie S.K.
Riboli E.
Feigelson H.S.
Le Marchand L.
Buring J.E.
Eccles D.
Miron P.
Fasching P.A.
Brauch H.
Chang-Claude J.
Carpenter J.
Godwin A.K.
Nevanlinna H.
Giles G.G.
Cox A.
Hopper J.L.
Bolla M.K.
Wang Q.
Dennis J.
Dicks E.
Howat W.J.
Schoof N.
Bojesen S.E.
Lambrechts D.
Broeks A.
Andrulis I.L.
Guenel P.
Burwinkel B.
Sawyer E.J.
Hollestelle A.
Fletcher O.
Winqvist R.
Brenner H.
Mannermaa A.
Hamann U.
Meindl A.
Lindblom A.
Zheng W.
Devillee P.
Goldberg M.S.
Lubinski J.
Kristensen V.
Swerdlow A.
Anton-Culver H.
Dork T.
Muir K.
Matsuo K.
Wu A.H.
Radice P.
Teo S.H.
Shu X.-O.
Blot W.
Kang D.
Hartman M.
Sangrajrang S.
Shen C.-Y.
Southey M.C.
Park D.J.
Hammet F.
Stone J.
Veer L.J.V.
Rutgers E.J.
Lophatananon A.
Stewart-Brown S.
Siriwanarangsan P.
Peto J.
Schrauder M.G.
Ekici A.B.
Beckmann M.W.
Dos Santos Silva I.
Johnson N.
Warren H.
Tomlinson I.
Kerin M.J.
Miller N.
Marme F.
Schneeweiss A.
Sohn C.
Truong T.
Laurent-Puig P.
Kerbrat P.
Nordestgaard Bo.G.
Nielsen S.F.
Flyger H.
Milne R.L.
Perez J.I.A.
Menendez P.
Muller H.
Arndt V.
Stegmaier C.
Lichtner P.
Lochmann M.
Justenhoven C.
Ko Y.-D.
Muranen T.A.
Aittomaki K.
Blomqvist C.
Greco D.
Heikkinen T.
Ito H.
Iwata H.
Yatabe Y.
Antonenkova N.N.
Margolin S.
Kataja V.
Kosma V.-M.
Hartikainen J.M.
Balleine R.
Tseng C.-C.
Berg D.V.D.
Stram D.O.
Neven P.
Dieudonne A.-S.
Leunen K.
Rudolph A.
Nickels S.
Flesch-Janys D.
Peterlongo P.
Peissel B.
Bernard L.
Olson J.E.
Wang X.
Stevens K.
Severi G.
Baglietto L.
McLean C.
Coetzee G.A.
Feng Y.
Henderson B.E.
Schumacher F.
Bogdanova N.V.
Labreche F.
Dumont M.
Yip C.H.
Taib N.A.M.
Cheng C.-Y.
Shrubsole M.
Long J.
Pylkas K.
Jukkola-Vuorinen A.
Kauppila S.
Knight J.A.
Glendon G.
Mulligan A.M.
Tollenaar R.A.E.M.
Seynaeve C.M.
Kriege M.
Hooning M.J.
Van Den Ouweland A.M.W.
Van Deurzen C.H.M.
Lu W.
Gao Y.-T.
Cai H.
Balasubramanian S.P.
Cross S.S.
Reed M.W.R.
Signorello L.
Cai Q.
Shah M.
Miao H.
Chan C.W.
Chia K.S.
Jakubowska A.
Jaworska K.
Durda K.
Hsiung C.-N.
Wu P.-E.
Yu J.-C.
Ashworth A.
Jones M.
Tessier D.C.
Gonzalez-Neira A.
Pita G.
Alonso M.R.
Vincent D.
Bacot F.
Ambrosone C.B.
Bandera E.V.
John E.M.
Chen G.K.
Hu J.J.
Rodriguez-Gil J.L.
Bernstein L.
Press M.F.
Ziegler R.G.
Millikan R.M.
Deming-Halverson S.L.
Nyante S.
Ingles S.A.
Waisfisz Q.
Tsimiklis H.
Makalic E.
Schmidt D.
Bui M.
Gibson L.
Muller-Myhsok B.
Schmutzler R.K.
Hein R.
Dahmen N.
Beckmann L.
Aaltonen K.
Czene K.
Irwanto A.
Liu J.
Turnbull C.
Rahman N.
Meijers-Heijboer H.
Uitterlinden A.G.
Rivadeneira F.
Olswold C.
Slager S.
Pilarski R.
Ademuyiwa F.
Konstantopoulou I.
Martin N.G.
Montgomery G.W.
Slamon D.J.
Rauh C.
Lux M.P.
Jud S.M.
Bruning T.
Weaver J.
Sharma P.
Pathak H.
Tapper W.
Gerty S.
Durcan L.
Trichopoulos D.
Tumino R.
Peeters P.H.
Kaaks R.
Campa D.
Canzian F.
Weiderpass E.
Johansson M.
Khaw K.-T.
Travis R.
Clavel-Chapelon F.
Kolonel L.N.
Chen C.
Beck A.
Hankinson S.E.
Berg C.D.
Hoover R.N.
Lissowska J.
Figueroa J.D.
Chasman D.I.
Gaudet M.M.
Diver W.R.
Willett W.C.
Hunter D.J.
Simard J.
Benitez J.
Dunning A.M.
Sherman M.E.
Chenevix-Trench G.
Chanock S.J.
Hall P.
Pharoah P.D.P.
Vachon C.
Easton D.F.
Haiman C.A.
Kraft P.
Title Genome-wide association studies identify four ER negative-specific breast cancer risk loci
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
1546-1718
Publication date 2013-01-01
Year available 2013
Sub-type Article (original research)
DOI 10.1038/ng.2561
Open Access Status Not yet assessed
Volume 45
Issue 4
Start page 392
End page 398
Total pages 7
Place of publication New York, NY, U.S.A.
Publisher Nature Publishing Group
Language eng
Subject 1311 Genetics
Abstract Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P= 2.1 x 10(-12) and LGR6, P = 1.4 x 10(-8)), 2p24.1 (P = 4.6 x 10(-8)) and 16q12.2 (FTO, P = 4.0 x 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P> 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.
Keyword Genetics & Heredity
Genetics & Heredity
GENETICS & HEREDITY
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID C1287/A10118
223175
BM0606
U01-CA98233
CA122340
HEALTH-F2-2009223175
PSR-SIIRI701
U19 CA 148065-01
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
Official 2014 Collection
School of Medicine Publications
 
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Created: Sun, 23 Feb 2014, 19:33:08 EST by Matthew Lamb on behalf of School of Medicine