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. 2015 Jun 16;13(1):15.
doi: 10.1186/s13053-015-0036-z. eCollection 2015.

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

Camilla Wendt  1 , Annika Lindblom  2 , Brita Arver  1 , Anna von Wachenfeldt  1 , Sara Margolin  1
Affiliations

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

Camilla Wendt et al. Hered Cancer Clin Pract. .

Abstract

Background: Approximately 30 % of all breast cancer is at least partly attributed to hereditary factors. Familial breast cancer is often inherited in the context of cancer syndromes. The most commonly mutated genes are BRCA1 and BRCA2 in hereditary breast and ovarian cancer syndrome. The genetic background in families with hereditary breast cancer without predisposing germ line mutations in BRCA1 and BRCA2 (non-BRCA families) is still to a large extent unclear even though progress has been made. The aim of this study was to compare cancer proportions in familial non-BRCA hereditary breast cancer compared to the general population in search of putative new breast cancer syndromes.

Methods: Pedigrees from 334 non-BRCA hereditary breast cancer families in the county of Stockholm, Sweden, were investigated and the distribution of cancer diagnoses other than breast cancer was compared with the distribution of cancer diagnoses in the general Swedish population in two reference years, 1970 and 2010. A cancer diagnosis was regarded as overrepresented in the non-BRCA families if the confidence interval was above both population reference values.

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.

Conclusion: In conclusion, we found an overrepresentation of endometrial cancer in our cohort of hereditary non-BRCA families. Our result supports previous inconsistent reports of a putative breast and endometrial cancer syndrome. An association has been suggested in studies of families with several cases of breast cancer in close relatives or bilateral breast cancer. To clarify this issue we suggest further studies on a breast and endometrial cancer syndrome in cohorts with a strong pattern of hereditary breast cancer. Identifying new breast cancer syndromes is of importance to improve genetic counselling for women at risk and a first step towards detection of new susceptibility genes.

Keywords: Breast cancer; Cancer syndrome; Endometrial cancer; Family history.

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Figures

Fig. 1
Fig. 1
Swedish Breast Cancer Group BRCA 1 and BRCA 2 screening criteria
Fig. 2
Fig. 2
Maternal and paternal branches are considered as two families although all diagnosis are registrered only once. Maternal branch marked with short lines and paternal branch marked with long lines
Fig. 3
Fig. 3
Flowchart illustrating inclusion and exclusion of study families
See this image and copyright information in PMC

Comment in

  • A breast and endometrial cancer syndrome.
    Wendt C, Margolin S. Wendt C, et al. Maturitas. 2016 May;87:3-4. doi: 10.1016/j.maturitas.2016.01.011. Epub 2016 Jan 22. Maturitas. 2016. PMID: 27013282 No abstract available.

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