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 Apicella; Montserrat 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; kConFab Investigators

doi:10.1093/hmg/dds159

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, kConFab Investigators

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

67 Citationer (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

Originalsprog	Engelsk
Tidsskrift	Human Molecular Genetics
Vol/bind	21
Udgave nummer	17
Sider (fra-til)	3926-39
Antal sider	14
ISSN	0964-6906
DOI	https://doi.org/10.1093/hmg/dds159
Status	Udgivet - 2012

Adgang til dokumentet

10.1093/hmg/dds159

Citationsformater

Fasching, P. A., Pharoah, P. D. P., Cox, A., Nevanlinna, H., Bojesen, S. E., Karn, T., Broeks, A., van Leeuwen, F. E., van't Veer, L. J., Udo, R., Dunning, A. M., Greco, D., Aittomäki, K., Blomqvist, C., Shah, M., Nordestgaard, B. G., Flyger, H., Hopper, J. L., Southey, M. C., ... kConFab Investigators (2012). The role of genetic breast cancer susceptibility variants as prognostic factors. Human Molecular Genetics, 21(17), 3926-39. 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; kConFab Investigators.

I: Human Molecular Genetics, Bind 21, Nr. 17, 2012, s. 3926-39.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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, V-M, Hartikainen, JM, Andrulis, IL, Ozcelik, H, Mulligan, A-M, 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, T-W, Giles, GG, Severi, G & kConFab Investigators 2012, 'The role of genetic breast cancer susceptibility variants as prognostic factors', Human Molecular Genetics, bind 21, nr. 17, s. 3926-39. 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 ; kConFab Investigators. / The role of genetic breast cancer susceptibility variants as prognostic factors. I: Human Molecular Genetics. 2012 ; Bind 21, Nr. 17. s. 3926-39.

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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",

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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 - kConFab Investigators

PY - 2012

Y1 - 2012

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

U2 - 10.1093/hmg/dds159

DO - 10.1093/hmg/dds159

M3 - Journal article

C2 - 22532573

VL - 21

SP - 3926

EP - 3939

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 17

ER -