Cancergenetics, A Lindblom

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.

Team leader

Team members

Rajeev Kumar

Postdoctoral Researcher
Profile image

Litika Vermani

Postdoctoral Studies
Profile image

Hafdís Helgadóttir

Affiliated to Research
Profile image

Shabane Barot

Phd Student

Elin Barnekow

Phd Student

Tilde Sjödin, lab.ass.

Yvonne Borg Lawesson, research nurse


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, studying colorectal cancer and the Breast Cancer Association Consortium, (BCAC),, studying breast cancer.


The Swedish Research Council, Cancerfonden, ALF, Radiumhemsfonderna.

Selected publications

1. 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.
Lindblom A, Zhou XL, Liu T, Liljegren A, Skoglund J, Djureinovic T,
Expert Rev Anticancer Ther 2004 Jun;4(3):377-85

2. 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.
von Wachenfeldt A, Lindblom A, , Grönberg H, Einbeigi Z, Rosenquist R, Gardman C, Iselius L
Hered Cancer Clin Pract 2007 Mar;5(1):17-24

3. A second paper confirmed the breast-endometrial cancer syndrome

Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden.
Wendt C, Lindblom A, Arver B, von Wachenfeldt A, Margolin S
Hered Cancer Clin Pract 2015 ;13(1):15

4. 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.
Forsberg A, Keränen A, VON Holst S, Picelli S, Papadogiannakis N, Ghazi S, Lindblom A
Anticancer Res 2017 Apr;37(4):1831-1835

5. 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.
Liu W, Jiao X, Thutkawkorapin J, Mahdessian H, Lindblom A
Oncotarget 2017 Dec;8(66):110300-110310

6. 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.
Michailidou K, Lindström S, Dennis J, Beesley J, Hui S, Kar S, Lemaçon A, Soucy P, Glubb D, Rostamianfar A, Bolla MK, Wang Q, Tyrer J, Dicks E, et al.
Nature 2017 Nov;551(7678):92-94

7. 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.
O'Mara TA, Glubb DM, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann MW, Black A, Bolla MK, Brauch H, Brenner H, Brinton L, Buchanan DD, et al.
Nat Commun 2018 Aug;9(1):3166

8. 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.
Schmit SL, Edlund CK, Schumacher FR, Gong J, Harrison TA, Huyghe JR, Qu C, Melas M, Van Den Berg DJ, Wang H, Tring S, Plummer SJ, Albanes D, Alonso MH, et al.
J Natl Cancer Inst 2019 Feb;111(2):146-157

9. The first GWAS on Swedish colorectal cancer

Colorectal cancer risk susceptibility loci in a Swedish population.
Liu W, Mahdessian H, Helgadottir H, Zhou X, Thutkawkorapin J, Jiao X, , Wolk A, Lindblom A
Mol Carcinog 2022 Mar;61(3):288-300

10. 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.
Barnekow E, Hasslow J, Liu W, Bryant P, Thutkawkorapin J, Wendt C, Czene K, Hall P, Margolin S, Lindblom A
Int J Mol Sci 2023 Feb;24(5):

Lilian Pagrot