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Cancer genetics




Families undergoing genetic counseling for an increased risk of cancer and where no disease gene is known are being included in our ongoing studies. We have performed many studies to rule out possible candidate genes. Families without known mutations have been recruited to our linkage and association studies. We have in total identified more than 1000 families without mutations in known genes and many of those families have been included in studies. We have ongoing studies in familial colorectal cancer and familial breast cancer and we are looking for new cancer syndromes. We also use large clinical materials for testing the hypothesis of cancer as a complex disease. Our results are implemented into clinical praxis. We have studied effects of genetic counseling and genetic testing and surveillance in cancer families and been able to demonstrate the usefulness of oncogenetic counseling and that it does not bring unwanted side effects of anxiety. We have also continued to improve the procedure of genetic cancer counseling, and to improve the procedure of genetic testing and to evaluate the surveillance program. We have also found that patients under surveillance tolerate this well and are aware of its importance.


Selected publications

Møller P, et al. Cancer incicence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrom database. Gut. 2017 Mar;66(3):464-472.

Cheng TH, et al. Five endometriaal cancer risk loci identified through genome-wide association analysis. Nat Genet. 2016 Jun;48(6):667-74. 

Movahedi M, et al. Obesity, Aspirin and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study. J Clin Oncol. 2015 Nov 1;33(31):3591-7.

Michailidou K. et al. Genome-wide association analysis of more than 120.000 individuals identifies 15 new susceptibility loci for breast cancer. Nat Genet. 2015 Apr;47(4):373-80. 

ten Broeke SW, et al. Lynch syndrom caused by germline PMS2 mutations: delineating the cancer risk. J Clin Oncol. 2015 Feb 1;33(4):319-25. 

Kuchenbaecker KB, et al. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat Genet. 2015 Feb;47(2):164-71. 

Kontham V, von Holst S, Lindblom, A. Linkage analysis in familial non-Lynch syndrome colorectal cancer families from Sweden. PLoS One. 2013 Dec 11;8(12):e83936. 

Bojesen SE, et al. Multiple independent variants at the TERT locus ar associated with telomere length and risks of breast and ovarian cancer. Nat Genet. 2013 Apr;45(4):371-84, 384e1-2.

Dunlop MG, et al. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nat Genet. 2012 May 27;44(7):770-6.

Burn J, et al. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet. 2011 Dec 17;378(9809):2081-7.

Platten U, Rantala J, Lindblom A, Brandberg Y, Lindgren G, Arver B. The use of telephone in genetic counseling versus in-person counseling: a randomized study on counselees’ outcome. Fam Cancer. 2012 Sep;11(3):371-9.

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