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. 2014 May 7;12(1):14.
doi: 10.1186/1897-4287-12-14. eCollection 2014.

Familial cancer among consecutive uterine cancer patients in Sweden

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Familial cancer among consecutive uterine cancer patients in Sweden

Gerasimos Tzortzatos et al. Hered Cancer Clin Pract. .

Abstract

Background: Uterine cancer (UC) represents 5.1% of all female malignancies in Sweden. Accumulation of UC in families occurs in around 5% of cases. We wanted to identify any familial association between UC and other selected cancers and to study the frequency of Lynch,Cowden and cancer syndromes among consecutive UC patients in Sweden.

Methods: 481 UC patients were included. Information on the cancer diagnoses of their relatives (first- (FDRs) and second-degree (SDRs) relatives and first cousins) was obtained. The relative frequencies of different cancers among relatives were compared to those in the Swedish general cancer population in 1970 and 2010. Families that fulfilled the criteria for hereditary cancer syndromes were tested for mutations in the causative genes. Families with at least one case of UC in addition to the index patient were compared to families with no additional cases to investigate possible characteristics of putative hereditary cancer syndromes.

Results: There was an increased prevalence of UC in our study population compared to the Swedish general cancer population in 1970 and 2010 (6% vs. 4% and 3%, respectively). Seven families had Lynch Syndrome according to the Amsterdam II criteria. No families fulfilled the criteria for Cowden syndrome. In total 13% of index patients had at least one relative with UC and these families tended to have more cases of early onset cancer among family members. In addition, 16% of index patients were diagnosed with at least one other cancer. No families fulfilled the criteria for Cowden syndrome.

Conclusion: We showed a familial clustering of UC among relatives of our index patients. Of the seven families with mutation-verified Lynch Syndrome, only one had been previously diagnosed, highlighting the need to increase gynecologists' awareness of the importance of taking family history. Our data on multiple cancers and young age of onset in families with uterine cancer is compatible with the existence of additional hereditary uterine cancer syndromes.

Keywords: Familial cancer; Lynch Syndrome; Multiple tumors; Uterine cancer.

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Figures

Figure 1
Figure 1
Pedigrees of two families that were diagnosed with Lynch syndrome. MSH 2, del exon 7–10 and MSH2, c1147C > T mutations were diagnosed as part of the study. Note that there was no known colorectal cancer in any of the families.

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