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

67 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 language	English
Journal	Human Molecular Genetics
Volume	21
Issue number	17
Pages (from-to)	3926-39
Number of pages	14
ISSN	0964-6906
DOIs	https://doi.org/10.1093/hmg/dds159
Publication status	Published - Sept 2012

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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

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, vol. 21, no. 17, pp. 3926-39. https://doi.org/10.1093/hmg/dds159

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title = "The role of genetic breast cancer susceptibility variants as prognostic factors",

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",

author = "Fasching, {Peter A} and Pharoah, {Paul D P} and Angela Cox and Heli Nevanlinna and Bojesen, {Stig E} and Thomas Karn and Annegien Broeks and {van Leeuwen}, {Flora E} and {van't Veer}, {Laura J} and Renate Udo and Dunning, {Alison M} and Dario Greco and Kristiina Aittom{\"a}ki and Carl Blomqvist and Mitul Shah and Nordestgaard, {B{\o}rge G} and Henrik Flyger and Hopper, {John L} and Southey, {Melissa C} and Carmel Apicella and Montserrat Garcia-Closas and Mark Sherman and Jolanta Lissowska and Caroline Seynaeve and Huijts, {Petra E A} and Tollenaar, {Rob A E M} and Argyrios Ziogas and Ekici, {Arif B} and Claudia Rauh and Arto Mannermaa and Vesa Kataja and Veli-Matti Kosma and Hartikainen, {Jaana M} and Andrulis, {Irene L} and Hilmi Ozcelik and Anna-Marie Mulligan and Gord Glendon and Per Hall and Kamila Czene and Jianjun Liu and Jenny Chang-Claude and Shan Wang-Gohrke and Ursula Eilber and Stefan Nickels and Thilo D{\"o}rk and Maria Schiekel and Michael Bremer and Tjoung-Won Park-Simon and Giles, {Graham G} and Gianluca Severi and B{\o}rge Nordestgaard",

year = "2012",

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doi = "10.1093/hmg/dds159",

language = "English",

volume = "21",

pages = "3926--39",

journal = "Human Molecular Genetics",

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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 - 2012/9

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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

U2 - 10.1093/hmg/dds159

DO - 10.1093/hmg/dds159

M3 - Journal article

C2 - 22532573

SN - 0964-6906

VL - 21

SP - 3926

EP - 3939

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 17

ER -

The role of genetic breast cancer susceptibility variants as prognostic factors

Abstract

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