Abstract
Germline mutations of BRCA1 and BRCA2 predispose to hereditary breast-ovarian cancer syndrome. In Finland, 20 different BRCA1/2 mutations have been identified, and 13 of them are founder mutations that account for the vast majority of Finnish BRCA1/2 families. The purpose of our study was to determine the prevalence of BRCA1/2 mutations in unselected Finnish ovarian carcinoma patients and to evaluate the relationship between mutation carrier status and personal/family history of cancer. Two hundred and thirty-three patients were screened for all the 20 BRCA1/2 mutations known in the Finnish population. Additionally, a subgroup of patients with personal history of breast cancer and/or family history of breast and/or ovarian cancer was screened for novel BRCA1/2 mutations. Thirteen patients (5.6%) had mutations: eleven in BRCA1 and two in BRCA2. All the mutation-positive patients were carriers of the previously known Finnish BRCA1/2 mutations, and seven recurrent founder mutations accounted for 12 of the 13 mutations detected. A logistic regression analysis was used to determine the odds of mutation for ovarian carcinoma patients. The most significant predictor of a mutation was the presence of both breast and ovarian cancer in the same woman, but family history of breast cancer was also strongly related to mutation carrier status. Although BRCA1/2 mutation testing is not warranted in the general Finnish ovarian cancer patient population, patients who have also been diagnosed with breast cancer or have family history of breast or breast and ovarian cancer could benefit from referral to genetic counselling and mutation testing.
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Acknowledgements
The authors wish to thank Dr Hanna Oksanen for her advice in statistical analyses, Dr Lawrence Brody for kindly providing us the cloned DNA containing the complete BRCA1 cDNA, Ms Gynel Arifdshan for her help in sample collection and preparation, and Ms Merja Lindfors for her technical assistance. We also acknowledge the patients participating in this study. The study was supported by grants from the Academy of Finland, the Finnish Cancer Society, the Clinical Research Fund of Helsinki University Central Hospital (EVO), the Helsinki University Science Foundation, the Foundation of Ella and Georg Ehrnrooth, and the Ida Montin Foundation.
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Sarantaus, L., Vahteristo, P., Bloom, E. et al. BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients. Eur J Hum Genet 9, 424–430 (2001). https://doi.org/10.1038/sj.ejhg.5200652
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DOI: https://doi.org/10.1038/sj.ejhg.5200652
