Dr Karoline Kuchenbaecker | Statistical Geneticist

This person is a member of Sanger Institute Alumni.

Kuchenbaecker, Karoline

My research focusses on understanding the genetic background of common diseases by identifying susceptibility variants, investigating the genetic architecture and predicting risk.

I have been working in Genetic Epidemiology of breast and ovarian cancer as well as of cardiovascular disease. Through my research I would like to contribute to advancing our understanding of the aetiology of common diseases and improve risk prediction. I am interested in exploring the genetic architecture of complex traits using data from genome-wide association and whole-genome sequencing studies. My expertise also comprises discovery of susceptibility variants, fine-mapping, Mendelian Randomisation and risk prediction.
In the Analytical Genomics group I am involved in the UKHLS and the HELIC studies.


  • Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

    Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson D, French JD et al.

    Nature genetics 2016;48;4;374-86

  • Selecting instruments for Mendelian randomization in the wake of genome-wide association studies.

    Swerdlow DI, Kuchenbaecker KB, Shah S, Sofat R, Holmes MV et al.

    International journal of epidemiology 2016;45;5;1600-1616

  • Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.

    Couch FJ, Kuchenbaecker KB, Michailidou K, Mendoza-Fandino GA, Nord S et al.

    Nature communications 2016;7;11375

  • Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

    Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC et al.

    Nature genetics 2015;47;2;164-71

  • Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci.

    Coetzee SG, Shen HC, Hazelett DJ, Lawrenson K, Kuchenbaecker K et al.

    Human molecular genetics 2015;24;13;3595-607

  • HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials.

    Swerdlow DI, Preiss D, Kuchenbaecker KB, Holmes MV, Engmann JE et al.

    Lancet (London, England) 2015;385;9965;351-61

  • Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.

    Kuchenbaecker KB, Neuhausen SL, Robson M, Barrowdale D, McGuffog L et al.

    Breast cancer research : BCR 2014;16;6;3416

  • Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.

    Fischer C, Kuchenbäcker K, Engel C, Zachariae S, Rhiem K et al.

    Journal of medical genetics 2013;50;6;360-7

  • Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.

    Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T et al.

    PLoS genetics 2013;9;3;e1003173

  • The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.

    Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium, Swerdlow DI, Holmes MV, Kuchenbaecker KB, Engmann JE et al.

    Lancet (London, England) 2012;379;9822;1214-24

Kuchenbaecker, Karoline
Karoline's Timeline

Statistical geneticist, Wellcome Trust Sanger Institute


PhD in Genetic Epidemiology, University of Cambridge


Research associate, Centre for Cancer Genetic Epidemiology, University of Cambridge


"Diplom" Psychology, WWU Muenster, Germany

Research associate, UCL


MSc Biometry, University of Reading


"Vordiplom" Psychology, WWU Muenster, Germany