A novel frequent BRCA1 recurrent variant c.5117G & gt; A (p.Gly1206Glu) identified after 20  years of BRCA1/2 research in the Baltic region: cohort study and literature review

ConclusionsBy combining three studies by our group of the same cohort in Latvia, frequency of theBRCA1/2 PV for unselected breast and ovarian cancer cases is 241/5060 (4.8%) and 162/1067 (15.2%) respectively. The frequency of three “historical” founder PV is up to 87.0% (369/424). Other non-founder PV contribute to at least 13.0% (55/424) and this proportion probably will rise by increasing numbers of theBRCA1/2 sequencing. In relative numbers, c.5117G  >  A is currently the third most frequent PV of theBRCA1 in population of Latvia, overcoming previously known third most common founder variant c.181  T >  G. In addition to threeBRCA1 founder PV, a total of five recurrentBRCA1 and two recurrentBRCA2 PV have been reported in population of Latvia so far. Many of theBRCA1/2 PV reported in Latvia are shared among other populations of the Baltic region.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research