Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden

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Results

We found that endometrial cancer was overrepresented in the non-BRCA families with a 6.36 % proportion (CI 4.67–8.2) compared to the proportion in the general population in the reference years 1970 (3.07 %) and 2010 (2.64 %). Moreover tumours of the ovary, liver, pancreas and prostate were overrepresented.

Conclusions

To summarise, we found an overrepresentation of endometrial cancer in our cohort of hereditary non-BRCA families, which supports earlier findings that breast and endometrial cancer may constitute a breast cancer syndrome. Since results from studies are divergent this issue needs to be resolved by further studies preferably on cohorts with two close relatives or more affected by breast cancer or bilateral breast cancer. The conflicting results could be due to methodology since the association may only be evident in families with a strong pattern of breast cancer susceptibility. Identifying new breast cancer syndromes is of importance to reach more women at increased risk of cancer with preventive programmes. It is also a first step towards detection of new susceptibility genes.