Common germline polymorphisms associated with breast cancer-specific survival

A Pirie; Q Guo; P Kraft; S Canisius; DM Eccles; N Rahman; H Nevanlinna; C (Christopher Li Hsian) Chen; Salima Khan; J Tyrer; MK Bolla; Q (Qing) Wang; J Dennis; K Michailidou; M Lush; AM Dunning; M Shah; K Czene; H Darabi; M Eriksson; D Lambrechts; C Weltens; K Leunen; C Van Ongeval; BG Nordestgaard; SF Nielsen; H Flyger; A Rudolph; P Seibold; D Flesch-Janys; C Blomqvist; K Aittomaaki; R Fagerholm; TA Muranen; JE Olsen; E Hallberg; C Vachon; JA Knight; G Glendon; AM Mulligan; A Broeks; S Cornelissen; CA Haiman; BE Henderson; F Schumacher; L Le Marchand; JL Hopper; H Tsimiklis; C Apicella; MC Southey; SS Cross; MWR Reed; GG Giles; RL Milne; C McLean; R Winqvist; K Pylkas; A Jukkola-Vuorinen; M Grip; Maartje Hooning; Antoinette Hollestelle; John Martens; Ans van den Ouweland; F Marme; A Schneeweiss; RX Yang; B Burwinkel; J Figueroa; SJ Chanock; J Lissowska; EJ Sawyer; I Tomlinson; MJ Kerin; N Miller; H Brenner; K Butterbach; B Holleczek; V Kataja; VM Kosma; JM Hartikainen; JM Li; JS Brand; K Humphreys; P Devilee; RAEM Tollenaar; Caroline Seynaeve; P Radice; P Peterlongo; S Manoukian; F Ficarazzi; MW Beckmann; A Hein; AB Ekici; R Balleine; KA Phillips; J Benitez; MP Zamora; JIA Perez; P Menendez; A Jakubowska; J Lubinski; J Gronwald; K Durda; U Hamann; M Kabisch; HU Ulmer; T Rudiger; S Margolin; V Kristensen; S Nord; DG Evans; J Abraham; H Earl; CJ Poole; L Hiller; JA Dunn; S Bowden; R Yang; D Campa; WR Diver; SM Gapstur; MM Gaudet; S Hankinson; RN Hoover; A Husing; R Kaaks; MJ Machiela; W Willett; M Barrdahl; F Canzian; SF Chin; C Caldas; DJ Hunter; S Lindstrom; M Garcia-Closas; FJ Couch; G Chenevix-Trench; A Mannermaa; IL Andrulis; P Hall; J Chang-Claude; DF Easton; SE Bojesen; A Cox; PA Fasching; PDP Pharoah; MK (Marjanka) Schmidt

doi:10.1186/s13058-015-0570-7

Common germline polymorphisms associated with breast cancer-specific survival

A Pirie, Q Guo, P Kraft, S Canisius, DM Eccles, N Rahman, H Nevanlinna, C (Christopher Li Hsian) Chen, Salima Khan, J Tyrer, MK Bolla, Q (Qing) Wang, J Dennis, K Michailidou, M Lush, AM Dunning, M Shah, K Czene, H Darabi, M ErikssonD Lambrechts, C Weltens, K Leunen, C Van Ongeval, BG Nordestgaard, SF Nielsen, H Flyger, A Rudolph, P Seibold, D Flesch-Janys, C Blomqvist, K Aittomaaki, R Fagerholm, TA Muranen, JE Olsen, E Hallberg, C Vachon, JA Knight, G Glendon, AM Mulligan, A Broeks, S Cornelissen, CA Haiman, BE Henderson, F Schumacher, L Le Marchand, JL Hopper, H Tsimiklis, C Apicella, MC Southey, SS Cross, MWR Reed, GG Giles, RL Milne, C McLean, R Winqvist, K Pylkas, A Jukkola-Vuorinen, M Grip, Maartje Hooning, Antoinette Hollestelle, John Martens, Ans van den Ouweland, F Marme, A Schneeweiss, RX Yang, B Burwinkel, J Figueroa, SJ Chanock, J Lissowska, EJ Sawyer, I Tomlinson, MJ Kerin, N Miller, H Brenner, K Butterbach, B Holleczek, V Kataja, VM Kosma, JM Hartikainen, JM Li, JS Brand, K Humphreys, P Devilee, RAEM Tollenaar, Caroline Seynaeve, P Radice, P Peterlongo, S Manoukian, F Ficarazzi, MW Beckmann, A Hein, AB Ekici, R Balleine, KA Phillips, J Benitez, MP Zamora, JIA Perez, P Menendez, A Jakubowska, J Lubinski, J Gronwald, K Durda, U Hamann, M Kabisch, HU Ulmer, T Rudiger, S Margolin, V Kristensen, S Nord, DG Evans, J Abraham, H Earl, CJ Poole, L Hiller, JA Dunn, S Bowden, R Yang, D Campa, WR Diver, SM Gapstur, MM Gaudet, S Hankinson, RN Hoover, A Husing, R Kaaks, MJ Machiela, W Willett, M Barrdahl, F Canzian, SF Chin, C Caldas, DJ Hunter, S Lindstrom, M Garcia-Closas, FJ Couch, G Chenevix-Trench, A Mannermaa, IL Andrulis, P Hall, J Chang-Claude, DF Easton, SE Bojesen, A Cox, PA Fasching, PDP Pharoah, MK (Marjanka) Schmidt

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Abstract

Introduction: Previous studies have identified common germline variants nominally associated with breast cancer survival. These associations have not been widely replicated in further studies. The purpose of this study was to evaluate the association of previously reported SNPs with breast cancer-specific survival using data from a pooled analysis of eight breast cancer survival genome-wide association studies (GWAS) from the Breast Cancer Association Consortium. Methods: A literature review was conducted of all previously published associations between common germline variants and three survival outcomes: breast cancer-specific survival, overall survival and disease-free survival. All associations that reached the nominal significance level of P value <0.05 were included. Single nucleotide polymorphisms that had been previously reported as nominally associated with at least one survival outcome were evaluated in the pooled analysis of over 37,000 breast cancer cases for association with breast cancer-specific survival. Previous associations were evaluated using a one-sided test based on the reported direction of effect. Results: Fifty-six variants from 45 previous publications were evaluated in the meta-analysis. Fifty-four of these were evaluated in the full set of 37,954 breast cancer cases with 2,900 events and the two additional variants were evaluated in a reduced sample size of 30,000 samples in order to ensure independence from the previously published studies. Five variants reached nominal significance (P <0.05) in the pooled GWAS data compared to 2.8 expected under the null hypothesis. Seven additional variants were associated (P <0.05) with ER-positive disease. Conclusions: Although no variants reached genome-wide significance (P <5 x 10(-8)), these results suggest that there is some evidence of association between candidate common germline variants and breast cancer prognosis. Larger studies from multinational collaborations are necessary to increase the power to detect associations, between common variants and prognosis, at more stringent significance levels.

Original language	Undefined/Unknown
Journal	Breast Cancer Research
Volume	17
DOIs	https://doi.org/10.1186/s13058-015-0570-7
Publication status	Published - 2015

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EMC MM-03-86-01

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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Cite this

Pirie, A., Guo, Q., Kraft, P., Canisius, S., Eccles, DM., Rahman, N., Nevanlinna, H., Chen, C., Khan, S., Tyrer, J., Bolla, MK., Wang, Q., Dennis, J., Michailidou, K., Lush, M., Dunning, AM., Shah, M., Czene, K., Darabi, H., ... Schmidt, MK. (2015). Common germline polymorphisms associated with breast cancer-specific survival. Breast Cancer Research, 17. https://doi.org/10.1186/s13058-015-0570-7

@article{3262bdc64d77459bbb6c581d6da7864e,

title = "Common germline polymorphisms associated with breast cancer-specific survival",

abstract = "Introduction: Previous studies have identified common germline variants nominally associated with breast cancer survival. These associations have not been widely replicated in further studies. The purpose of this study was to evaluate the association of previously reported SNPs with breast cancer-specific survival using data from a pooled analysis of eight breast cancer survival genome-wide association studies (GWAS) from the Breast Cancer Association Consortium. Methods: A literature review was conducted of all previously published associations between common germline variants and three survival outcomes: breast cancer-specific survival, overall survival and disease-free survival. All associations that reached the nominal significance level of P value <0.05 were included. Single nucleotide polymorphisms that had been previously reported as nominally associated with at least one survival outcome were evaluated in the pooled analysis of over 37,000 breast cancer cases for association with breast cancer-specific survival. Previous associations were evaluated using a one-sided test based on the reported direction of effect. Results: Fifty-six variants from 45 previous publications were evaluated in the meta-analysis. Fifty-four of these were evaluated in the full set of 37,954 breast cancer cases with 2,900 events and the two additional variants were evaluated in a reduced sample size of 30,000 samples in order to ensure independence from the previously published studies. Five variants reached nominal significance (P <0.05) in the pooled GWAS data compared to 2.8 expected under the null hypothesis. Seven additional variants were associated (P <0.05) with ER-positive disease. Conclusions: Although no variants reached genome-wide significance (P <5 x 10(-8)), these results suggest that there is some evidence of association between candidate common germline variants and breast cancer prognosis. Larger studies from multinational collaborations are necessary to increase the power to detect associations, between common variants and prognosis, at more stringent significance levels.",

author = "A Pirie and Q Guo and P Kraft and S Canisius and DM Eccles and N Rahman and H Nevanlinna and Chen, {C (Christopher Li Hsian)} and Salima Khan and J Tyrer and MK Bolla and Wang, {Q (Qing)} and J Dennis and K Michailidou and M Lush and AM Dunning and M Shah and K Czene and H Darabi and M Eriksson and D Lambrechts and C Weltens and K Leunen and {Van Ongeval}, C and BG Nordestgaard and SF Nielsen and H Flyger and A Rudolph and P Seibold and D Flesch-Janys and C Blomqvist and K Aittomaaki and R Fagerholm and TA Muranen and JE Olsen and E Hallberg and C Vachon and JA Knight and G Glendon and AM Mulligan and A Broeks and S Cornelissen and CA Haiman and BE Henderson and F Schumacher and {Le Marchand}, L and JL Hopper and H Tsimiklis and C Apicella and MC Southey and SS Cross and MWR Reed and GG Giles and RL Milne and C McLean and R Winqvist and K Pylkas and A Jukkola-Vuorinen and M Grip and Maartje Hooning and Antoinette Hollestelle and John Martens and {van den Ouweland}, Ans and F Marme and A Schneeweiss and RX Yang and B Burwinkel and J Figueroa and SJ Chanock and J Lissowska and EJ Sawyer and I Tomlinson and MJ Kerin and N Miller and H Brenner and K Butterbach and B Holleczek and V Kataja and VM Kosma and JM Hartikainen and JM Li and JS Brand and K Humphreys and P Devilee and RAEM Tollenaar and Caroline Seynaeve and P Radice and P Peterlongo and S Manoukian and F Ficarazzi and MW Beckmann and A Hein and AB Ekici and R Balleine and KA Phillips and J Benitez and MP Zamora and JIA Perez and P Menendez and A Jakubowska and J Lubinski and J Gronwald and K Durda and U Hamann and M Kabisch and HU Ulmer and T Rudiger and S Margolin and V Kristensen and S Nord and DG Evans and J Abraham and H Earl and CJ Poole and L Hiller and JA Dunn and S Bowden and R Yang and D Campa and WR Diver and SM Gapstur and MM Gaudet and S Hankinson and RN Hoover and A Husing and R Kaaks and MJ Machiela and W Willett and M Barrdahl and F Canzian and SF Chin and C Caldas and DJ Hunter and S Lindstrom and M Garcia-Closas and FJ Couch and G Chenevix-Trench and A Mannermaa and IL Andrulis and P Hall and J Chang-Claude and DF Easton and SE Bojesen and A Cox and PA Fasching and PDP Pharoah and Schmidt, {MK (Marjanka)}",

year = "2015",

doi = "10.1186/s13058-015-0570-7",

language = "Undefined/Unknown",

volume = "17",

journal = "Breast Cancer Research",

issn = "1465-5411",

publisher = "BioMed Central Ltd.",

}

Pirie, A, Guo, Q, Kraft, P, Canisius, S, Eccles, DM, Rahman, N, Nevanlinna, H, Chen, C, Khan, S, Tyrer, J, Bolla, MK, Wang, Q, Dennis, J, Michailidou, K, Lush, M, Dunning, AM, Shah, M, Czene, K, Darabi, H, Eriksson, M, Lambrechts, D, Weltens, C, Leunen, K, Van Ongeval, C, Nordestgaard, BG, Nielsen, SF, Flyger, H, Rudolph, A, Seibold, P, Flesch-Janys, D, Blomqvist, C, Aittomaaki, K, Fagerholm, R, Muranen, TA, Olsen, JE, Hallberg, E, Vachon, C, Knight, JA, Glendon, G, Mulligan, AM, Broeks, A, Cornelissen, S, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Hopper, JL, Tsimiklis, H, Apicella, C, Southey, MC, Cross, SS, Reed, MWR, Giles, GG, Milne, RL, McLean, C, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Hooning, M, Hollestelle, A, Martens, J, van den Ouweland, A, Marme, F, Schneeweiss, A, Yang, RX, Burwinkel, B, Figueroa, J, Chanock, SJ, Lissowska, J, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Brenner, H, Butterbach, K, Holleczek, B, Kataja, V, Kosma, VM, Hartikainen, JM, Li, JM, Brand, JS, Humphreys, K, Devilee, P, Tollenaar, RAEM, Seynaeve, C, Radice, P, Peterlongo, P, Manoukian, S, Ficarazzi, F, Beckmann, MW, Hein, A, Ekici, AB, Balleine, R, Phillips, KA, Benitez, J, Zamora, MP, Perez, JIA, Menendez, P, Jakubowska, A, Lubinski, J, Gronwald, J, Durda, K, Hamann, U, Kabisch, M, Ulmer, HU, Rudiger, T, Margolin, S, Kristensen, V, Nord, S, Evans, DG, Abraham, J, Earl, H, Poole, CJ, Hiller, L, Dunn, JA, Bowden, S, Yang, R, Campa, D, Diver, WR, Gapstur, SM, Gaudet, MM, Hankinson, S, Hoover, RN, Husing, A, Kaaks, R, Machiela, MJ, Willett, W, Barrdahl, M, Canzian, F, Chin, SF, Caldas, C, Hunter, DJ, Lindstrom, S, Garcia-Closas, M, Couch, FJ, Chenevix-Trench, G, Mannermaa, A, Andrulis, IL, Hall, P, Chang-Claude, J, Easton, DF, Bojesen, SE, Cox, A, Fasching, PA, Pharoah, PDP & Schmidt, MK 2015, 'Common germline polymorphisms associated with breast cancer-specific survival', Breast Cancer Research, vol. 17. https://doi.org/10.1186/s13058-015-0570-7

TY - JOUR

T1 - Common germline polymorphisms associated with breast cancer-specific survival

AU - Pirie, A

AU - Guo, Q

AU - Kraft, P

AU - Canisius, S

AU - Eccles, DM

AU - Rahman, N

AU - Nevanlinna, H

AU - Chen, C (Christopher Li Hsian)

AU - Khan, Salima

AU - Tyrer, J

AU - Bolla, MK

AU - Wang, Q (Qing)

AU - Dennis, J

AU - Michailidou, K

AU - Lush, M

AU - Dunning, AM

AU - Shah, M

AU - Czene, K

AU - Darabi, H

AU - Eriksson, M

AU - Lambrechts, D

AU - Weltens, C

AU - Leunen, K

AU - Van Ongeval, C

AU - Nordestgaard, BG

AU - Nielsen, SF

AU - Flyger, H

AU - Rudolph, A

AU - Seibold, P

AU - Flesch-Janys, D

AU - Blomqvist, C

AU - Aittomaaki, K

AU - Fagerholm, R

AU - Muranen, TA

AU - Olsen, JE

AU - Hallberg, E

AU - Vachon, C

AU - Knight, JA

AU - Glendon, G

AU - Mulligan, AM

AU - Broeks, A

AU - Cornelissen, S

AU - Haiman, CA

AU - Henderson, BE

AU - Schumacher, F

AU - Le Marchand, L

AU - Hopper, JL

AU - Tsimiklis, H

AU - Apicella, C

AU - Southey, MC

AU - Cross, SS

AU - Reed, MWR

AU - Giles, GG

AU - Milne, RL

AU - McLean, C

AU - Winqvist, R

AU - Pylkas, K

AU - Jukkola-Vuorinen, A

AU - Grip, M

AU - Hooning, Maartje

AU - Hollestelle, Antoinette

AU - Martens, John

AU - van den Ouweland, Ans

AU - Marme, F

AU - Schneeweiss, A

AU - Yang, RX

AU - Burwinkel, B

AU - Figueroa, J

AU - Chanock, SJ

AU - Lissowska, J

AU - Sawyer, EJ

AU - Tomlinson, I

AU - Kerin, MJ

AU - Miller, N

AU - Brenner, H

AU - Butterbach, K

AU - Holleczek, B

AU - Kataja, V

AU - Kosma, VM

AU - Hartikainen, JM

AU - Li, JM

AU - Brand, JS

AU - Humphreys, K

AU - Devilee, P

AU - Tollenaar, RAEM

AU - Seynaeve, Caroline

AU - Radice, P

AU - Peterlongo, P

AU - Manoukian, S

AU - Ficarazzi, F

AU - Beckmann, MW

AU - Hein, A

AU - Ekici, AB

AU - Balleine, R

AU - Phillips, KA

AU - Benitez, J

AU - Zamora, MP

AU - Perez, JIA

AU - Menendez, P

AU - Jakubowska, A

AU - Lubinski, J

AU - Gronwald, J

AU - Durda, K

AU - Hamann, U

AU - Kabisch, M

AU - Ulmer, HU

AU - Rudiger, T

AU - Margolin, S

AU - Kristensen, V

AU - Nord, S

AU - Evans, DG

AU - Abraham, J

AU - Earl, H

AU - Poole, CJ

AU - Hiller, L

AU - Dunn, JA

AU - Bowden, S

AU - Yang, R

AU - Campa, D

AU - Diver, WR

AU - Gapstur, SM

AU - Gaudet, MM

AU - Hankinson, S

AU - Hoover, RN

AU - Husing, A

AU - Kaaks, R

AU - Machiela, MJ

AU - Willett, W

AU - Barrdahl, M

AU - Canzian, F

AU - Chin, SF

AU - Caldas, C

AU - Hunter, DJ

AU - Lindstrom, S

AU - Garcia-Closas, M

AU - Couch, FJ

AU - Chenevix-Trench, G

AU - Mannermaa, A

AU - Andrulis, IL

AU - Hall, P

AU - Chang-Claude, J

AU - Easton, DF

AU - Bojesen, SE

AU - Cox, A

AU - Fasching, PA

AU - Pharoah, PDP

AU - Schmidt, MK (Marjanka)

PY - 2015

Y1 - 2015

N2 - Introduction: Previous studies have identified common germline variants nominally associated with breast cancer survival. These associations have not been widely replicated in further studies. The purpose of this study was to evaluate the association of previously reported SNPs with breast cancer-specific survival using data from a pooled analysis of eight breast cancer survival genome-wide association studies (GWAS) from the Breast Cancer Association Consortium. Methods: A literature review was conducted of all previously published associations between common germline variants and three survival outcomes: breast cancer-specific survival, overall survival and disease-free survival. All associations that reached the nominal significance level of P value <0.05 were included. Single nucleotide polymorphisms that had been previously reported as nominally associated with at least one survival outcome were evaluated in the pooled analysis of over 37,000 breast cancer cases for association with breast cancer-specific survival. Previous associations were evaluated using a one-sided test based on the reported direction of effect. Results: Fifty-six variants from 45 previous publications were evaluated in the meta-analysis. Fifty-four of these were evaluated in the full set of 37,954 breast cancer cases with 2,900 events and the two additional variants were evaluated in a reduced sample size of 30,000 samples in order to ensure independence from the previously published studies. Five variants reached nominal significance (P <0.05) in the pooled GWAS data compared to 2.8 expected under the null hypothesis. Seven additional variants were associated (P <0.05) with ER-positive disease. Conclusions: Although no variants reached genome-wide significance (P <5 x 10(-8)), these results suggest that there is some evidence of association between candidate common germline variants and breast cancer prognosis. Larger studies from multinational collaborations are necessary to increase the power to detect associations, between common variants and prognosis, at more stringent significance levels.

AB - Introduction: Previous studies have identified common germline variants nominally associated with breast cancer survival. These associations have not been widely replicated in further studies. The purpose of this study was to evaluate the association of previously reported SNPs with breast cancer-specific survival using data from a pooled analysis of eight breast cancer survival genome-wide association studies (GWAS) from the Breast Cancer Association Consortium. Methods: A literature review was conducted of all previously published associations between common germline variants and three survival outcomes: breast cancer-specific survival, overall survival and disease-free survival. All associations that reached the nominal significance level of P value <0.05 were included. Single nucleotide polymorphisms that had been previously reported as nominally associated with at least one survival outcome were evaluated in the pooled analysis of over 37,000 breast cancer cases for association with breast cancer-specific survival. Previous associations were evaluated using a one-sided test based on the reported direction of effect. Results: Fifty-six variants from 45 previous publications were evaluated in the meta-analysis. Fifty-four of these were evaluated in the full set of 37,954 breast cancer cases with 2,900 events and the two additional variants were evaluated in a reduced sample size of 30,000 samples in order to ensure independence from the previously published studies. Five variants reached nominal significance (P <0.05) in the pooled GWAS data compared to 2.8 expected under the null hypothesis. Seven additional variants were associated (P <0.05) with ER-positive disease. Conclusions: Although no variants reached genome-wide significance (P <5 x 10(-8)), these results suggest that there is some evidence of association between candidate common germline variants and breast cancer prognosis. Larger studies from multinational collaborations are necessary to increase the power to detect associations, between common variants and prognosis, at more stringent significance levels.

U2 - 10.1186/s13058-015-0570-7

DO - 10.1186/s13058-015-0570-7

M3 - Article

C2 - 25897948

SN - 1465-5411

VL - 17

JO - Breast Cancer Research

JF - Breast Cancer Research

ER -