The role of genetic breast cancer susceptibility variants as prognostic factors

Peter A. Fasching, Paul D P Pharoah, Angela Cox, Heli Nevanlinna, Stig E. Bojesen, Thomas Karn, Annegien Broeks, Flora E. Van Leeuwen, Laura J. Van't Veer, Renate Udo, Alison M. Dunning, Dario Greco, Kristiina Aittomäki, Carl Blomqvist, Mitul Shah, Børge G. Nordestgaard, Henrik Flyger, John L. Hopper, Melissa C. Southey, Carmel ApicellaMontserrat Garcia-Closas, Mark Sherman, Jolanta Lissowska, Caroline Seynaeve, Petra E A Huijts, Rob A E M Tollenaar, Argyrios Ziogas, Arif B. Ekici, Claudia Rauh, Arto Mannermaa, Vesa Kataja, Veli Matti Kosma, Jaana M. Hartikainen, Irene L. Andrulis, Hilmi Ozcelik, Anna Marie Mulligan, Gord Glendon, Per Hall, Kamila Czene, Jianjun Liu, Jenny Chang-Claude, Shan Wang-Gohrke, Ursula Eilber, Stefan Nickels, Thilo Dörk, Maria Schiekel, Michael Bremer, Tjoung Won Park-Simon, Graham G. Giles, Gianluca Severi, Laura Baglietto, Maartje J. Hooning, John W M Martens, Agnes Jager, Mieke Kriege, Annika Lindblom, Sara Margolin, Fergus J. Couch, Kristen N. Stevens, Janet E. Olson, Matthew Kosel, Simon S. Cross, Sabapathy P. Balasubramanian, Malcolm W R Reed, Alexander Miron, Esther M. John, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Saila Kauppila, Barbara Burwinkel, Frederik Marme, Andreas Schneeweiss, Christof Sohn, Georgia Chenevix-Trench, Diether Lambrechts, Anne Sophie Dieudonne, Sigrid Hatse, Erik Van Limbergen, Javier Benitez, Roger L. Milne, M. Pilar Zamora, José Ignacio Arias Pérez, Bernardo Bonanni, Bernard Peissel, Bernard Loris, Paolo Peterlongo, Preetha Rajaraman, Sara J. Schonfeld, Hoda Anton-Culver, Peter Devilee, Matthias W. Beckmann, Dennis J. Slamon, Kelly Anne Phillips, Jonine D. Figueroa, Manjeet K. Humphreys, Douglas F. Easton, Marjanka K. Schmidt

Research output: Contribution to journalArticle

62 Citations (Scopus)

Abstract

Recent genome-wide association studies identified 11 single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk. We investigated these and 62 other SNPs for their prognostic relevance. Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. Cox proportional hazard models were used to test the association of these SNPs with overall survival (OS) and BC-specific survival (BCS). For the confirmed loci, we performed an accessory analysis of publicly available gene expression data and the prognosis in a different patient group. One of the 11 SNPs, rs3803662 (TOX3) and none of the 62 candidate/GWAS SNPs were associated with OS and/or BCS at P

Original languageEnglish
Article numberdds159
Pages (from-to)3926-3939
Number of pages14
JournalHuman Molecular Genetics
Volume21
Issue number17
DOIs
Publication statusPublished - Sep 2012

Fingerprint

Single Nucleotide Polymorphism
Breast Neoplasms
Genome-Wide Association Study
Survival
Proportional Hazards Models
Gene Expression

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology

Cite this

Fasching, P. A., Pharoah, P. D. P., Cox, A., Nevanlinna, H., Bojesen, S. E., Karn, T., ... Schmidt, M. K. (2012). The role of genetic breast cancer susceptibility variants as prognostic factors. Human Molecular Genetics, 21(17), 3926-3939. [dds159]. https://doi.org/10.1093/hmg/dds159

The role of genetic breast cancer susceptibility variants as prognostic factors. / Fasching, Peter A.; Pharoah, Paul D P; Cox, Angela; Nevanlinna, Heli; Bojesen, Stig E.; Karn, Thomas; Broeks, Annegien; Van Leeuwen, Flora E.; Van't Veer, Laura J.; Udo, Renate; Dunning, Alison M.; Greco, Dario; Aittomäki, Kristiina; Blomqvist, Carl; Shah, Mitul; Nordestgaard, Børge G.; Flyger, Henrik; Hopper, John L.; Southey, Melissa C.; Apicella, Carmel; Garcia-Closas, Montserrat; Sherman, Mark; Lissowska, Jolanta; Seynaeve, Caroline; Huijts, Petra E A; Tollenaar, Rob A E M; Ziogas, Argyrios; Ekici, Arif B.; Rauh, Claudia; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli Matti; Hartikainen, Jaana M.; Andrulis, Irene L.; Ozcelik, Hilmi; Mulligan, Anna Marie; Glendon, Gord; Hall, Per; Czene, Kamila; Liu, Jianjun; Chang-Claude, Jenny; Wang-Gohrke, Shan; Eilber, Ursula; Nickels, Stefan; Dörk, Thilo; Schiekel, Maria; Bremer, Michael; Park-Simon, Tjoung Won; Giles, Graham G.; Severi, Gianluca; Baglietto, Laura; Hooning, Maartje J.; Martens, John W M; Jager, Agnes; Kriege, Mieke; Lindblom, Annika; Margolin, Sara; Couch, Fergus J.; Stevens, Kristen N.; Olson, Janet E.; Kosel, Matthew; Cross, Simon S.; Balasubramanian, Sabapathy P.; Reed, Malcolm W R; Miron, Alexander; John, Esther M.; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Kauppila, Saila; Burwinkel, Barbara; Marme, Frederik; Schneeweiss, Andreas; Sohn, Christof; Chenevix-Trench, Georgia; Lambrechts, Diether; Dieudonne, Anne Sophie; Hatse, Sigrid; Van Limbergen, Erik; Benitez, Javier; Milne, Roger L.; Zamora, M. Pilar; Pérez, José Ignacio Arias; Bonanni, Bernardo; Peissel, Bernard; Loris, Bernard; Peterlongo, Paolo; Rajaraman, Preetha; Schonfeld, Sara J.; Anton-Culver, Hoda; Devilee, Peter; Beckmann, Matthias W.; Slamon, Dennis J.; Phillips, Kelly Anne; Figueroa, Jonine D.; Humphreys, Manjeet K.; Easton, Douglas F.; Schmidt, Marjanka K.

In: Human Molecular Genetics, Vol. 21, No. 17, dds159, 09.2012, p. 3926-3939.

Research output: Contribution to journalArticle

Fasching, PA, Pharoah, PDP, Cox, A, Nevanlinna, H, Bojesen, SE, Karn, T, Broeks, A, Van Leeuwen, FE, Van't Veer, LJ, Udo, R, Dunning, AM, Greco, D, Aittomäki, K, Blomqvist, C, Shah, M, Nordestgaard, BG, Flyger, H, Hopper, JL, Southey, MC, Apicella, C, Garcia-Closas, M, Sherman, M, Lissowska, J, Seynaeve, C, Huijts, PEA, Tollenaar, RAEM, Ziogas, A, Ekici, AB, Rauh, C, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, JM, Andrulis, IL, Ozcelik, H, Mulligan, AM, Glendon, G, Hall, P, Czene, K, Liu, J, Chang-Claude, J, Wang-Gohrke, S, Eilber, U, Nickels, S, Dörk, T, Schiekel, M, Bremer, M, Park-Simon, TW, Giles, GG, Severi, G, Baglietto, L, Hooning, MJ, Martens, JWM, Jager, A, Kriege, M, Lindblom, A, Margolin, S, Couch, FJ, Stevens, KN, Olson, JE, Kosel, M, Cross, SS, Balasubramanian, SP, Reed, MWR, Miron, A, John, EM, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Kauppila, S, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Chenevix-Trench, G, Lambrechts, D, Dieudonne, AS, Hatse, S, Van Limbergen, E, Benitez, J, Milne, RL, Zamora, MP, Pérez, JIA, Bonanni, B, Peissel, B, Loris, B, Peterlongo, P, Rajaraman, P, Schonfeld, SJ, Anton-Culver, H, Devilee, P, Beckmann, MW, Slamon, DJ, Phillips, KA, Figueroa, JD, Humphreys, MK, Easton, DF & Schmidt, MK 2012, 'The role of genetic breast cancer susceptibility variants as prognostic factors', Human Molecular Genetics, vol. 21, no. 17, dds159, pp. 3926-3939. https://doi.org/10.1093/hmg/dds159
Fasching PA, Pharoah PDP, Cox A, Nevanlinna H, Bojesen SE, Karn T et al. The role of genetic breast cancer susceptibility variants as prognostic factors. Human Molecular Genetics. 2012 Sep;21(17):3926-3939. dds159. https://doi.org/10.1093/hmg/dds159
Fasching, Peter A. ; Pharoah, Paul D P ; Cox, Angela ; Nevanlinna, Heli ; Bojesen, Stig E. ; Karn, Thomas ; Broeks, Annegien ; Van Leeuwen, Flora E. ; Van't Veer, Laura J. ; Udo, Renate ; Dunning, Alison M. ; Greco, Dario ; Aittomäki, Kristiina ; Blomqvist, Carl ; Shah, Mitul ; Nordestgaard, Børge G. ; Flyger, Henrik ; Hopper, John L. ; Southey, Melissa C. ; Apicella, Carmel ; Garcia-Closas, Montserrat ; Sherman, Mark ; Lissowska, Jolanta ; Seynaeve, Caroline ; Huijts, Petra E A ; Tollenaar, Rob A E M ; Ziogas, Argyrios ; Ekici, Arif B. ; Rauh, Claudia ; Mannermaa, Arto ; Kataja, Vesa ; Kosma, Veli Matti ; Hartikainen, Jaana M. ; Andrulis, Irene L. ; Ozcelik, Hilmi ; Mulligan, Anna Marie ; Glendon, Gord ; Hall, Per ; Czene, Kamila ; Liu, Jianjun ; Chang-Claude, Jenny ; Wang-Gohrke, Shan ; Eilber, Ursula ; Nickels, Stefan ; Dörk, Thilo ; Schiekel, Maria ; Bremer, Michael ; Park-Simon, Tjoung Won ; Giles, Graham G. ; Severi, Gianluca ; Baglietto, Laura ; Hooning, Maartje J. ; Martens, John W M ; Jager, Agnes ; Kriege, Mieke ; Lindblom, Annika ; Margolin, Sara ; Couch, Fergus J. ; Stevens, Kristen N. ; Olson, Janet E. ; Kosel, Matthew ; Cross, Simon S. ; Balasubramanian, Sabapathy P. ; Reed, Malcolm W R ; Miron, Alexander ; John, Esther M. ; Winqvist, Robert ; Pylkäs, Katri ; Jukkola-Vuorinen, Arja ; Kauppila, Saila ; Burwinkel, Barbara ; Marme, Frederik ; Schneeweiss, Andreas ; Sohn, Christof ; Chenevix-Trench, Georgia ; Lambrechts, Diether ; Dieudonne, Anne Sophie ; Hatse, Sigrid ; Van Limbergen, Erik ; Benitez, Javier ; Milne, Roger L. ; Zamora, M. Pilar ; Pérez, José Ignacio Arias ; Bonanni, Bernardo ; Peissel, Bernard ; Loris, Bernard ; Peterlongo, Paolo ; Rajaraman, Preetha ; Schonfeld, Sara J. ; Anton-Culver, Hoda ; Devilee, Peter ; Beckmann, Matthias W. ; Slamon, Dennis J. ; Phillips, Kelly Anne ; Figueroa, Jonine D. ; Humphreys, Manjeet K. ; Easton, Douglas F. ; Schmidt, Marjanka K. / The role of genetic breast cancer susceptibility variants as prognostic factors. In: Human Molecular Genetics. 2012 ; Vol. 21, No. 17. pp. 3926-3939.
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T1 - The role of genetic breast cancer susceptibility variants as prognostic factors

AU - Fasching, Peter A.

AU - Pharoah, Paul D P

AU - Cox, Angela

AU - Nevanlinna, Heli

AU - Bojesen, Stig E.

AU - Karn, Thomas

AU - Broeks, Annegien

AU - Van Leeuwen, Flora E.

AU - Van't Veer, Laura J.

AU - Udo, Renate

AU - Dunning, Alison M.

AU - Greco, Dario

AU - Aittomäki, Kristiina

AU - Blomqvist, Carl

AU - Shah, Mitul

AU - Nordestgaard, Børge G.

AU - Flyger, Henrik

AU - Hopper, John L.

AU - Southey, Melissa C.

AU - Apicella, Carmel

AU - Garcia-Closas, Montserrat

AU - Sherman, Mark

AU - Lissowska, Jolanta

AU - Seynaeve, Caroline

AU - Huijts, Petra E A

AU - Tollenaar, Rob A E M

AU - Ziogas, Argyrios

AU - Ekici, Arif B.

AU - Rauh, Claudia

AU - Mannermaa, Arto

AU - Kataja, Vesa

AU - Kosma, Veli Matti

AU - Hartikainen, Jaana M.

AU - Andrulis, Irene L.

AU - Ozcelik, Hilmi

AU - Mulligan, Anna Marie

AU - Glendon, Gord

AU - Hall, Per

AU - Czene, Kamila

AU - Liu, Jianjun

AU - Chang-Claude, Jenny

AU - Wang-Gohrke, Shan

AU - Eilber, Ursula

AU - Nickels, Stefan

AU - Dörk, Thilo

AU - Schiekel, Maria

AU - Bremer, Michael

AU - Park-Simon, Tjoung Won

AU - Giles, Graham G.

AU - Severi, Gianluca

AU - Baglietto, Laura

AU - Hooning, Maartje J.

AU - Martens, John W M

AU - Jager, Agnes

AU - Kriege, Mieke

AU - Lindblom, Annika

AU - Margolin, Sara

AU - Couch, Fergus J.

AU - Stevens, Kristen N.

AU - Olson, Janet E.

AU - Kosel, Matthew

AU - Cross, Simon S.

AU - Balasubramanian, Sabapathy P.

AU - Reed, Malcolm W R

AU - Miron, Alexander

AU - John, Esther M.

AU - Winqvist, Robert

AU - Pylkäs, Katri

AU - Jukkola-Vuorinen, Arja

AU - Kauppila, Saila

AU - Burwinkel, Barbara

AU - Marme, Frederik

AU - Schneeweiss, Andreas

AU - Sohn, Christof

AU - Chenevix-Trench, Georgia

AU - Lambrechts, Diether

AU - Dieudonne, Anne Sophie

AU - Hatse, Sigrid

AU - Van Limbergen, Erik

AU - Benitez, Javier

AU - Milne, Roger L.

AU - Zamora, M. Pilar

AU - Pérez, José Ignacio Arias

AU - Bonanni, Bernardo

AU - Peissel, Bernard

AU - Loris, Bernard

AU - Peterlongo, Paolo

AU - Rajaraman, Preetha

AU - Schonfeld, Sara J.

AU - Anton-Culver, Hoda

AU - Devilee, Peter

AU - Beckmann, Matthias W.

AU - Slamon, Dennis J.

AU - Phillips, Kelly Anne

AU - Figueroa, Jonine D.

AU - Humphreys, Manjeet K.

AU - Easton, Douglas F.

AU - Schmidt, Marjanka K.

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N2 - Recent genome-wide association studies identified 11 single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk. We investigated these and 62 other SNPs for their prognostic relevance. Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. Cox proportional hazard models were used to test the association of these SNPs with overall survival (OS) and BC-specific survival (BCS). For the confirmed loci, we performed an accessory analysis of publicly available gene expression data and the prognosis in a different patient group. One of the 11 SNPs, rs3803662 (TOX3) and none of the 62 candidate/GWAS SNPs were associated with OS and/or BCS at P

AB - Recent genome-wide association studies identified 11 single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk. We investigated these and 62 other SNPs for their prognostic relevance. Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. Cox proportional hazard models were used to test the association of these SNPs with overall survival (OS) and BC-specific survival (BCS). For the confirmed loci, we performed an accessory analysis of publicly available gene expression data and the prognosis in a different patient group. One of the 11 SNPs, rs3803662 (TOX3) and none of the 62 candidate/GWAS SNPs were associated with OS and/or BCS at P

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