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

Pēteris Loža; Arvīds Irmejs; Zanda Daneberga; Edvīns Miklaševičs; Egija Berga-Švītiņa; Signe Subatniece; Jeļena Maksimenko; Jānis Gardovskis; Elīna Tauvena; Genadijs Trofimovičs; Staņislavs Ukleikins

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 language	English
Pages	103
Publication status	Published - 24 Mar 2021
Event	RSU Research week 2021: Knowledge for Use in Practice - Rīga, Latvia Duration: 24 Mar 2021 → 26 Mar 2021 https://rw2021.rsu.lv/conferences/knowledge-use-practice

Conference

Conference	RSU Research week 2021: Knowledge for Use in Practice
Abbreviated title	RW2021
Country/Territory	Latvia
City	Rīga
Period	24/03/21 → 26/03/21
Internet address	https://rw2021.rsu.lv/conferences/knowledge-use-practice

Field of Science*

3.2 Clinical medicine

Publication Type*

3.4. Other publications in conference proceedings (including local)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

1 Book

Rīga Stradiņš University International Research Conference on Medical and Health Care Sciences “Knowledge for Use in Practice”: Abstracts, 24–26 March, 2021
Rīga Stradiņš University, 2021, Rīga: Rīga Stradiņš University. 565 p.
Research output: Book/Report › Book

Open Access

1 Poster presentation

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
Loža, P. (Speaker)
24 Mar 2021
Activity: Talk or presentation types › Poster presentation

Cite this

Loža, P., Irmejs, A., Daneberga, Z., Miklaševičs, E., Berga-Švītiņa, E., Subatniece, S., Maksimenko, J., Gardovskis, J., Tauvena, E., Trofimovičs, G., & Ukleikins, S. (2021). 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. 103. Abstract from RSU Research week 2021: Knowledge for Use in Practice, Rīga, Latvia.

@conference{efca2e09ac2b48099bd715ba5532925f,

title = "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",

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",

author = "Pēteris Lo{\v z}a and Arvīds Irmejs and Zanda Daneberga and Edvīns Mikla{\v s}evi{\v c}s and Egija Berga-{\v S}vītiņa and Signe Subatniece and Jeļena Maksimenko and Jānis Gardovskis and Elīna Tauvena and Genadijs Trofimovi{\v c}s and Staņislavs Ukleikins",

year = "2021",

month = mar,

day = "24",

language = "English",

pages = "103",

note = "RSU Research week 2021: Knowledge for Use in Practice, RW2021 ; Conference date: 24-03-2021 Through 26-03-2021",

url = "https://rw2021.rsu.lv/conferences/knowledge-use-practice",

}

Loža, P , Irmejs, A , Daneberga, Z , Miklaševičs, E , Berga-Švītiņa, E , Subatniece, S , Maksimenko, J , Gardovskis, J, Tauvena, E, Trofimovičs, G & Ukleikins, S 2021, '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', RSU Research week 2021: Knowledge for Use in Practice, Rīga, Latvia, 24/03/21 - 26/03/21 pp. 103.

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. / Loža, Pēteris ; Irmejs, Arvīds ; Daneberga, Zanda et al.
2021. 103 Abstract from RSU Research week 2021: Knowledge for Use in Practice, Rīga, Latvia.

Research output: Contribution to conference › Abstract › peer-review

TY - CONF

T1 - 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

AU - Loža, Pēteris

AU - Irmejs, Arvīds

AU - Daneberga, Zanda

AU - Miklaševičs, Edvīns

AU - Berga-Švītiņa, Egija

AU - Subatniece, Signe

AU - Maksimenko, Jeļena

AU - Gardovskis, Jānis

AU - Tauvena, Elīna

AU - Trofimovičs, Genadijs

AU - Ukleikins, Staņislavs

PY - 2021/3/24

Y1 - 2021/3/24

N2 - 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

AB - 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

M3 - Abstract

SP - 103

T2 - RSU Research week 2021: Knowledge for Use in Practice

Y2 - 24 March 2021 through 26 March 2021

ER -

Loža P , Irmejs A , Daneberga Z , Miklaševičs E , Berga-Švītiņa E , Subatniece S et al.. 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. 2021. Abstract from RSU Research week 2021: Knowledge for Use in Practice, Rīga, Latvia.

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

Abstract

Conference

Field of Science*

Publication Type*

UN SDGs

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Research output

Rīga Stradiņš University International Research Conference on Medical and Health Care Sciences “Knowledge for Use in Practice”: Abstracts, 24–26 March, 2021

Activities

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

Cite this