The authors declare that they have no conflicts of interest.
Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening
Version of Record online: 11 MAR 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Special Issue: BRCA1 and BRCA2
Volume 85, Issue 1, pages 59–63, January 2014
How to Cite
Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening., , , , , , , , , .
- Issue online: 12 DEC 2013
- Version of Record online: 11 MAR 2013
- Accepted manuscript online: 9 FEB 2013 06:41AM EST
- Manuscript Accepted: 5 FEB 2013
- Manuscript Revised: 24 DEC 2012
- Manuscript Received: 12 OCT 2012
- genetic testing;
- geographical distribution;
- recurrent mutations;
Knowledge of the geographical distribution of highly recurrent mutations may be useful for efficient screening in cancer families. Since the cloning of the BRCA1/2 genes, it is known that the wide spectrum of deleterious mutations shows high ethnic and geographic heterogeneity. In this study, we have tested probands from 582 breast/ovarian cancer families and positioned all 156 BRCA1/2 families on the map according to the family origin. We observed that high-risk families with the same recurrent mutation present a typical geographical distribution and that different recurrent mutations may show different distribution patterns. We then evaluated the genetic screening implications of this heterogeneous prevalence of the most recurrent mutations found [300T>G(c.181T>G), 1806C>T(c.1687C>T), 969ins7(c.844_850dupTCATTAC), 5382insC(c.5266dupC), 235G>A(c.116G>A) in BRCA1 and IVS16-2A>G(c.7806-2A>G) in BRCA2]. On the basis of these results, specific testing procedures for new incident cases may be offered according to their family origins and, according to the information regarding clusters revealed in this study, the individuals (especially those at low risk), originating from regions with clusters, might be screened preferentially for cluster mutations and analysis may be simplified according to the family origin.