Novel recurrent BRCA1 pathogenic variants c.5117G>A (p.Gly1706Glu) and c.4675G>A (p.Glu1559Lys) identified after 20 years of BRCA1/2 research in Baltic region. Cohort study and a literature review

Research output: Contribution to conferenceAbstractpeer-review

Abstract

Several recent studies in the Baltic region have found extended spectrum of pathogenic variants (PV) of the BRCA1/2 genes. The aim of current study is to analyze the spectrum of the BRCA1/2 PV in population of Latvia and to compare common PV between populations of the Baltic region. This study is based on a  prospective cohort of 9543 unrelated individuals including ones with cancer and unaffected individuals from population of Latvia, who were tested for three most common BRCA1 founder PV. In second line testing, 164 founder negative high-risk individuals were tested for PV of the BRCA1/2 using next generation sequencing (NGS). Local spectrum of the BRCA1/2 PV was compared with the Baltic region by performing a literature review. A founder PV c.5266dupC, c.4035delA or c.181t>G was detected in 369/9543 (3.9%) cases. Other BRCA1/2 PV were found in 44/164 (26.8%) of NGS cases. Four recurrent BRCA1 variants c.5117G>A (p.Gly1706Glu), c.4675G>A (p.Glu1559Lys), c.5503C>T (p.Arg1835*) and c.1961delA (p.Lys654fs) were detected in 18/44 (41.0%), 5/44 (11.4 %), 2/44 (4.5%) and 2/44 (4.5%) cases respectively. Additionally, eleven BRCA1 PV and six BRCA2 PV were each found in single family By combining three studies by our group of the same cohort in Latvia, frequency of the BRCA1/2 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). In relative numbers, c.5117G>A is currently the third most frequent PV of the BRCA1 in population of Latvia. In addition to three BRCA1 founder PV, a total of five recurrent BRCA1 and two recurrent BRCA2 PV have been reported in population of Latvia so far. Many of the BRCA1/2 PV reported in Latvia are shared among other populations of the Baltic region
Original languageEnglish
Pages103
Publication statusPublished - 24 Mar 2021
EventRSU Research week 2021: Knowledge for Use in Practice - Rīga, Latvia
Duration: 24 Mar 202126 Mar 2021
https://rw2021.rsu.lv/conferences/knowledge-use-practice

Conference

ConferenceRSU Research week 2021: Knowledge for Use in Practice
Abbreviated titleRW2021
CountryLatvia
CityRīga
Period24/03/2126/03/21
Internet address

Field of Science

  • 3.2 Clinical medicine

Publication Type

  • 3.4. Other publications in conference proceedings (including local)

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