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BRCA1 gene mutations may explain more than 80% of excess numberof ovarian cancer cases after breast cancer – a population based studyfrom the Western Sweden Health Care region
Sahlgrenska University Hospital.
Östergötlands Läns Landsting, Heart and Medicine Centre, Department of Dermatology and Venerology in Östergötland. Linköping University, Faculty of Health Sciences. Linköping University, Department of Clinical and Experimental Medicine, Cell Biology.
Sahlgrenska University Hospital.
Sahlgrenska University Hospital.
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2010 (English)In: Acta Oncologica, ISSN 0284-186X, E-ISSN 1651-226X, Vol. 49, 361-367 p.Article in journal (Refereed) Published
Abstract [en]

AIM: In a previous cohort study, we showed that there was a significant variation in the frequency of ovarian cancer after having breast cancer in Sweden, with the highest risk occuring in the Western region. The present study aimed to evaluate whether the high prevalence of the founder mutation BRCA1 3171ins5 may explain the excess number of ovarian cancer.



METHOD: Among more than 26 000 women with breast cancer in the Western Swedish Health Care Region, 159 cases were subsequently diagnosed with ovarian cancer, whereas the expected number was 96. Archived tissue material was analysed for six common Scandinavian BRCA1 and BRCA2 gene mutations.

RESULTS: The excess number of cases was 63 (95% CI 47-77), based on person-years at risk and national incidence rates of ovarian cancer. A BRCA1 gene mutation was detected in 33 cases corresponding to 52% of the excess number. The founder mutation, BRCA1 3171ins5, was detected in 44% of the excess number. The identified mutations decreased from 45% in women less than 50 years of age at follow-up to 14% at 60+ years at follow-up. There was no obvious decrease in mutation frequency by excess numbers with age. Age at follow-up and first-degree relatives with breast and/or ovarian cancer were the best predictors of a mutation in this material.

CONCLUSION: The founder mutation, BRCA1 3171ins5, explains the excess of ovarian cancer after breast cancer in the region. From the relative frequency of the studied mutations found at the cancer genetic counselling clinic, it is estimated that BRCA1 gene mutations are associated with about 80-85% of the excess cases. This means that a negative screening for these mutations in similar cases may have a predictive value and could strongly reduce the risk of ovarian cancer in relatives.

Place, publisher, year, edition, pages
Taylor and Francis , 2010. Vol. 49, 361-367 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:liu:diva-64285DOI: 10.3109/02841860903521095OAI: diva2:388784
Available from: 2011-01-21 Created: 2011-01-18 Last updated: 2013-04-02Bibliographically approved

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Enerbäck, Charlotta
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Department of Dermatology and Venerology in ÖstergötlandFaculty of Health SciencesCell Biology
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