Single measurement of serum 25(OH)D: is classification into month-specific cutpoints useful in accounting for seasonal variation?

Classification into month-specific cutpoints is used to minimize misclassification associated with single measurement of serum 25(OH)D. This study aims to evaluate this strategy, and to compare it with the widely used classification into overall cutpoints. For this purpose, we studied 69?553 subjects in whom serum 25(OH)D was tested on two different occasions. The level of agreement between the quartiles of the first and second tests was 43.8% between the month-specific quartiles and 43.1% between the overall quartiles. The level of agreement between the quartiles of the two approaches was 80.0% and 94.3% in the first and second test, respectively. The extent of seasonal variation (summer-autumn as compared with winter-spring) of serum 25(OH)D was higher in males and in Jews, inversely associated with baseline levels, body mass index and age, and directly associated with socioeconomic class. The month-specific cutpoint strategy does not seem to offer advantage over the overall cutpoints strategy.     

Familial cancer among consecutive uterine cancer patients in Sweden

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.