BRCA1 and BRCA2 mutations among Finnish ovarian carcinoma families

  • Authors:
    • L. Sarantaus
    • A. Auranen
    • H. Nevanlinna
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  • Published online on: April 1, 2001     https://doi.org/10.3892/ijo.18.4.831
  • Pages: 831-835
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Abstract

Germ-line mutations in BRCA1 and BRCA2 predispose to hereditary breast-ovarian cancer syndrome. In Finland, 21 different BRCA1/2 mutations have been identified and 14 of the mutations are founders that account for the great majority of all BRCA1/2 mutations. Our aim was to determine the prevalence of the 21 BRCA1/2 mutations in Finnish ovarian carcinoma families. Mutations were screened in 23 families with at least two cases of invasive epithelial ovarian carcinoma in the first-degree relatives. The families had been identified from a population-based series of 559 Finnish epithelial ovarian carcinoma patients. Fourteen of the families were site-specific ovarian carcinoma families, while breast cancer was present in nine families. Mutations were detected in five families: two had a mutation in BRCA1 and three in BRCA2. In one family, a novel, apparently disease-causing missense mutation in the BRCA2 gene had been identified previously. Thus, 26% of the Finnish ovarian carcinoma families were found to be BRCA1/2 mutation-positive. Strong ovarian cancer family history and early-onset breast cancer were strongly associated with BRCA1/2 mutation status; all families with three ovarian carcinoma cases or early-onset breast cancer (<50 years) were mutation-positive, whereas all families with later-onset breast cancer as well as the majority (9/11) of the site-specific ovarian carcinoma families with minor ovarian cancer history (i.e. two affected cases) remained mutation-negative.

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April 2001
Volume 18 Issue 4

Print ISSN: 1019-6439
Online ISSN:1791-2423

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Spandidos Publications style
Sarantaus L, Auranen A and Nevanlinna H: BRCA1 and BRCA2 mutations among Finnish ovarian carcinoma families. Int J Oncol 18: 831-835, 2001
APA
Sarantaus, L., Auranen, A., & Nevanlinna, H. (2001). BRCA1 and BRCA2 mutations among Finnish ovarian carcinoma families. International Journal of Oncology, 18, 831-835. https://doi.org/10.3892/ijo.18.4.831
MLA
Sarantaus, L., Auranen, A., Nevanlinna, H."BRCA1 and BRCA2 mutations among Finnish ovarian carcinoma families". International Journal of Oncology 18.4 (2001): 831-835.
Chicago
Sarantaus, L., Auranen, A., Nevanlinna, H."BRCA1 and BRCA2 mutations among Finnish ovarian carcinoma families". International Journal of Oncology 18, no. 4 (2001): 831-835. https://doi.org/10.3892/ijo.18.4.831