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Annika Lindblom Group

Cancer genetics / Famlial Cancer

Figure illustrating a typical pedigree with familial cancer where the black family members all have various forms of cancer.


This project focuses on precision medicine – defining individuals at increased risk of cancer to offer genetic counselling and cancer preventive measures. Cancer patients and controls are used to perform haplotype genome-wide association studies (GWAS) to identify chromosomal loci, suggested to harbor genetic risk markers to predict increased risk in healthy individuals, or increased risk of relapse in cancer patients. The project focuses on colorectal- and breast cancer patients with and without a family history of cancer and use after GWAS whole exome- or whole genome sequencing, and genotyping of patients as well as association studies, to find the genetic marker in each suggested locus to be used in clinical praxis. This research is laying the groundwork for the era of personalized medicine with more customized strategies. In the future, after improvements are made in the cost and efficiency of genome-wide scans and other innovative technologies, health professionals will be able to use such tools to provide patients with individualized information about their risks of developing certain diseases, such as cancer and provide individualized information on the risk of relapse in cancer patients. The information will enable health professionals to tailor prevention programs to each person’s unique genetic makeup. In addition, if a patient does become ill, the information can be used to select the treatments most likely to be effective and least likely to cause adverse reactions in a certain patient.

Group Leader

Annika Lindblom, professor in Medical Genetics at KI since 2001, MD at KI 1984, BSc  in 1976 Stockholm University, working in computer science, MD at KI 1984, working at Karolinska Hospital, in Oncology and Clinical Genetics, PhD 1993 on Familial Breast Cancer, professor. Introduced oncogenetic counseling in Sweden and won in 2014 a Prize from Karolinska University Hospital for the work with translational research in familial cancer on Lynch syndrome and the discovery of the gene MLH1.  Nineteen PhD students as main supervisor, and eight as co-supervisor, published more than 350 scientific original papers.


Group members

Litika Vermani, PhD, postdoc, litika.vermani@ki.se

Hafdis Helgadottir, PhD, postdoc, hafdis.helgadottir@ki.se

Tilde Sjödin, lab.ass., tildesjodin@hotmail.com

Yvonne Borg Lawesson, research nurse, yvonne.borg-lavesson@regionstockholm.se

Maritta Hellström-Pigg, MD, senior reserearcher, maritta.hellstrom-pigg@regionstockholm.se

Petri Rantanen, MD, Phd student and colorectal cancer surgeon, petri.rantanen@ki.se

Shabane Barot, MD, PhD student and colorectal cancer oncologist, shabane.barot@ki.se

Elin Barnekow, MD, PhD student and breast cancer oncologist, elin.barnekow@ki.se

Johanna Samola Winnberg, MD, PhD student and upper gastrointestinal surgeon, johanna.samola.winnberg@ki.se


Richard Rosenquist, professor, Clinical Genetics. Endometrial cancer projects in collaboration with gynecologist Miriam Mints and clinical geneticist Emma Tham. We also collaborate in breast- and endometrial cancer with professor Per Hall and associate professor Sara Margolin, both oncologists at Södersjukhuset, Kamila Czene, at MEB, Karolinska Institutet, and Tracy O´Mara, Australia (for Endometrial Cancer Association Consortium, ECAC). We collaborate with associate professors and surgeons Ulrik Lindforss and Mats Lindblad at Karolinska hospital, and associate professor Annelie Liljegren in projects on gastro-intestinal cancer. Other, international, collaborations include two consortia, CORECT, http://epi.grants.cancer.gov/gameon/ studying colorectal cancer and the Breast Cancer Association Consortium, (BCAC), http://apps.ccge.medschl.cam.ac.uk/consortia/bcac//, studying breast cancer.


The Swedish Research Council




Recent PhD theses from the group

2021 Karin Wallander, Hereditary predisposition and prognostic prediction in cancer

2020 Jenny von Salomé, Clinical aspects of Lynch Syndrome

2019 Jessada Thutkawkorapin, Next generation sequencing to find genetic risk factors in familial cancer

2017 Camilla Wendt, Genetic studies in familial non-BRCA breast cancer

Selected publications

The paper which outlined the strategy to study cancer as a complex disease:

Colorectal cancer as a complex disease: defining at-risk subjects in the general population – a preventive strategy. Annika Lindblom, Xiao-Lei Zhou, Tao Liu, Annelie Liljegren, Johanna Skoglund, Tatjana Djureinovic; Swedish Low-Risk Colorectal Cancer Group. Expert Rev Anticancer Ther. 2004 Jun;4(3):377-85.

The first paper describing the breast-endometrial cancer syndrome:

A hypothesis-generating search for new genetic breast cancer syndromes–a national study in 803 Swedish families. Anna von Wachenfeldt, Annika Lindblom; South Swedish Oncogenetic Study Group; Henrik Grönberg, Zakaria Einbeigi, Richard Rosenquist, Camilla Gardman, Lennart Iselius. Hered Cancer Clin Pract. 2007 Mar 15;5(1):17-24.

A second paper confirmed the breast-endometrial cancer syndrome:

Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden. Camilla Wendt , Annika Lindblom, Brita Arver, Anna von Wachenfeldt, Sara Margolin. Hered Cancer Clin Pract. 2015 Jun 16;13(1):15.

A paper from the suggesting a syndrome with increased risk of colorectal-, gastric- and prostate cancer:

Defining New Colorectal Cancer Syndromes in a Population-based Cohort of the Disease. Anna Forsberg, Anne Keränen, Susanna von Holst, Simone Picelli, Nikos Papadogiannakis, Sam Ghazi, Annika Lindblom. Anticancer Res. 2017 Apr;37(4):1831-1835.

The first paper to show it was possible to use haplotype GWAS in the Swedish population to find haplotypes suggesting new loci with increased cancer risk:

Cancer risk susceptibility loci in a Swedish population. Wen Liu, Xiang Jiao, Jessada Thutkawkorapin, Hovsep Mahdessian, Annika Lindblom. Oncotarget. 2017 Nov 25;8(66):110300-110310.

A publication from BCAC using breast cancer cases and controls genotyped with the Oncochip. Our studies continue to use the genotypes from this study:

Association analysis identifies 65 new breast cancer risk loci. Kyriaki Michailidou, Sara Lindström, Joe Dennis, Jonathan Beesley, Shirley Hui, et al. Nature. 2017 Nov 2;551(7678):92-94.

This paper describes the results from endometrial cancer GWAS in ECAC, using the Oncochip and our projects still use the data from this study.

Identification of nine new susceptibility loci for endometrial cancer. Tracy A O’Mara, Dylan M Glubb, Frederic Amant, Daniela Annibali, Katie Ashton, John Attia, et al. Nat Commun. 2018 Aug 9;9(1):3166.

The first paper using the Oncochip on our colorectal cancer low-risk samples, and similarly we now work on this data now for our colorectal studies:

Novel common genetic susceptibility loci for colorectal cancer. Stephanie L Schmit, Christopher K Edlund, Fredrick R Schumacher, Jian Gong, Tabitha A Harrison, Jeroen R Huyghe, et al. J Natl Cancer Inst. 2019 Feb 1;111(2):146-157.

The first GWAS on Swedish colorectal cancer:

Colorectal cancer risk susceptibility loci in a Swedish population. Wen Liu, Hovsep Mahdessian, Hafdis Helgadottir, Xingwu Zhou, Jessada Thutkawkorapin, Xiang Jiao; Swedish Low-risk Colorectal Cancer Study Group; Alicja Wolk, Annika Lindblom. Mol Carcinog. 2022 Mar;61(3):288-300.

The second GWAS on Swedish breast cancer:

A Swedish familial genome-wide haplotype analysis identified five novel breast cancer susceptibility loci on 9p24.3, 11q22.3, 15q11.2, 16q24.1 and Xq21.31. Elin Barnekow, Johan Hasslow, Wen Liu, Patrick Bryant, Jessada Thutkawkorapin, Camilla Wendt, Kamila Czene, Per Hall, Sara Margolin, Annika Lindblom. Int J Mol Sci. 2023 Feb 24;24(5):4468.

About CMM

The Center for Molecular Medicine (CMM) is a foundation instituted by the Stockholm County Council (Region Stockholm). CMM is at the heart of a close partnership with the Karolinska University Hospital and Karolinska Institutet, fueling advancements in biomedical and clinical research.


Center for Molecular Medicine Foundation, org. nr. 815201-3689

Karolinska University Hospital L8:05

Visionsgatan 18

171 76 Stockholm, Sweden


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