Open Access

Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families

  • Authors:
    • Srdjan Novaković
    • Maša Milatović
    • Petra Cerkovnik
    • Vida Stegel
    • Mateja Krajc
    • Marko Hočevar
    • Janez Žgajnar
    • Aleš Vakselj
  • View Affiliations

  • Published online on: August 21, 2012     https://doi.org/10.3892/ijo.2012.1595
  • Pages: 1619-1627
  • Copyright: © Novaković et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].

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Abstract

The estimated proportion of hereditary breast and ovarian cancers among all breast and ovarian cancer cases is 5-10%. According to the literature, inherited mutations in the BRCA1 and BRCA2 tumour-suppressor genes, account for the majority of hereditary breast and ovarian cancer cases. The aim of this report is to present novel mutations that have not yet been described in the literature and pathogenic BRCA1 and BRCA2 mutations which have been detected in HBOC families for the first time in the last three years. In the period between January 2009 and December 2011, 559 individuals from 379 families affected with breast and/or ovarian cancer were screened for mutations in the BRCA1 and BRCA2 genes. Three novel mutations were detected: one in BRCA1 - c.1193C>A (p.Ser398*) and two in BRCA2 - c.5101C>T (p.Gln1701*) and c.5433_5436delGGAA (p.Glu1811Aspfs*3). These novel mutations are located in the exons 11 of BRCA1 or BRCA2 and encode truncated proteins. Two of them are nonsense while one is a frameshift mutation. Also, 11 previously known pathogenic mutations were detected for the first time in the HBOC families studied here (three in BRCA1 and eight in BRCA2). All, except one cause premature formation of stop codons leading to truncation of the respective BRCA1 or BRCA2 proteins.
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November 2012
Volume 41 Issue 5

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

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Spandidos Publications style
Novaković S, Milatović M, Cerkovnik P, Stegel V, Krajc M, Hočevar M, Žgajnar J and Vakselj A: Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. Int J Oncol 41: 1619-1627, 2012
APA
Novaković, S., Milatović, M., Cerkovnik, P., Stegel, V., Krajc, M., Hočevar, M. ... Vakselj, A. (2012). Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. International Journal of Oncology, 41, 1619-1627. https://doi.org/10.3892/ijo.2012.1595
MLA
Novaković, S., Milatović, M., Cerkovnik, P., Stegel, V., Krajc, M., Hočevar, M., Žgajnar, J., Vakselj, A."Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families". International Journal of Oncology 41.5 (2012): 1619-1627.
Chicago
Novaković, S., Milatović, M., Cerkovnik, P., Stegel, V., Krajc, M., Hočevar, M., Žgajnar, J., Vakselj, A."Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families". International Journal of Oncology 41, no. 5 (2012): 1619-1627. https://doi.org/10.3892/ijo.2012.1595