Common germline polymorphisms associated with breast cancer-specific survival

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, Aittomaki 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 MJ, Hollestelle A, Martens JWM, Van Den Ouweland AMW, Marme F, Schneeweiss A, Yang R, 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 J, Brand JS, Humphreys K, Devilee P, Tollenaar RAEM, Seynaeve C, Radice P, Peterlongo P, Manoukian S, Ficarazzi F, Beckmann M, 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, Ruediger 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 P, Pharoah PDP, Schmidt MK (2015)

Publication Type: Journal article

Publication year: 2015

Journal

Book Volume: 17

Pages Range: 58

DOI: 10.1186/s13058-015-0570-7

Abstract

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.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.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.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.

Authors with CRIS profile

Involved external institutions

Fondazione IRCCS: Istituto Nazionale dei Tumori Italy (IT) IFOM - FIRC Institute of Molecular Oncology Italy (IT) University of Cambridge United Kingdom (GB) Antoni van Leeuwenhoek Netherlands (NL) The University of Melbourne Australia (AU) National Cancer Institute (NCI) United States (USA) (US) Pomeranian Medical University / Pomorski Uniwersytet Medyczny w Szczecinie (PMU) Poland (PL) Harvard University United States (USA) (US) University of Southampton United Kingdom (GB) Helsingin yliopisto / University of Helsinki Finland (FI) Karolinska Institute Sweden (SE) Flanders Institute for Biotechnology / Vlaams Instituut voor Biotechnologie (VIB) Belgium (BE) University Hospital Leuven (UZ) / Universitaire ziekenhuizen Leuven Belgium (BE) Copenhagen University Hospital Denmark (DK) Herlev Hospital Denmark (DK) Deutsches Krebsforschungszentrum (DKFZ) Germany (DE) Universitätsklinikum Hamburg-Eppendorf (UKE) Germany (DE) Mayo Clinic United States (USA) (US) Mount Sinai Hospital (MSH) Canada (CA) University of Toronto Canada (CA) University of Southern California (USC) United States (USA) (US) University of Hawaii (U.H.) United States (USA) (US) University of Sheffield United Kingdom (GB) Cancer Council Victoria Australia (AU) Oulun Yliopisto / University of Oulo Finland (FI) Erasmus University Medical Center (MC) Netherlands (NL) Ruprecht-Karls-Universität Heidelberg Germany (DE) Maria Skłodowska-Curie Institute of Oncology / Centrum Onkologii–Instytut im. Marii Skłodowskiej-Curie w Warszawie Poland (PL) King’s College London United Kingdom (GB) University of Oxford United Kingdom (GB) University Hospital Galway Ireland (IE) Krebsregister Saarland / Saarland Cancer Registry Germany (DE) University of Eastern Finland Finland (FI) Leiden University Netherlands (NL) University of Sydney (USYD) Australia (AU) Spanish National Cancer Research Centre / Centro Nacional de Investigaciones Oncológicas (CNIO) Spain (ES) Hospital Universitario La Paz Spain (ES) Hospital Monte Naranco Spain (ES) Städtisches Klinikum Karlsruhe Germany (DE) University of Oslo Norway (NO) University of Manchester United Kingdom (GB) Klinikum Mittelbaden Baden-Baden Balg Germany (DE) Cambridge University Hospital United Kingdom (GB) University of Warwick United Kingdom (GB) University of Birmingham United Kingdom (GB) American Cancer Society United States (USA) (US) University College London (UCL) United Kingdom (GB) QIMR Berghofer Medical Research Institute (früher: the Queensland Institute of Medical Research) Australia (AU) Kuopio University Hospital / Pohjois-Savon sairaanhoitopiiri Finland (FI)

How to cite

APA:

Pirie, A., Guo, Q., Kraft, P., Canisius, S., Eccles, D.M., Rahman, N.,... Schmidt, M.K. (2015). Common germline polymorphisms associated with breast cancer-specific survival. Breast Cancer Research, 17, 58. https://doi.org/10.1186/s13058-015-0570-7

MLA:

Pirie, Ailith, et al. "Common germline polymorphisms associated with breast cancer-specific survival." Breast Cancer Research 17 (2015): 58.

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