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Novel germline MLH1 and MSH2 mutations in latvian Lynch syndrome families

Background/Aims: Hereditary non-polyposis colorectal cancer or Lynch syndrome is an autosomal dominantly inherited disease with high penetrance, mostly due to mutations in the MLH1 and MSH2 genes. The aim of this study is to investigate the mutation spectrum of the MLH1 and MSH2 genes. Methodology:...

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Veröffentlicht in:Experimental Oncology
Datum:2012
Hauptverfasser: Berzina, D., Irmejs, A., Kalniete, D., Borosenko, V., Nakazawa-Miklasevica, M., Ribenieks, K., Trofimovics, G., Gardovskis, J., Miklasevics, E.
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Sprache:Englisch
Veröffentlicht: Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України 2012
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Online Zugang:https://nasplib.isofts.kiev.ua/handle/123456789/138723
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Zitieren:Novel germline MLH1 and MSH2 mutations in latvian Lynch syndrome families / D. Berzina, A. Irmejs, D. Kalniete, V. Borosenko, M. Nakazawa-Miklasevica, K. Ribenieks, G. Trofimovics, J. Gardovskis, E. Miklasevics // Experimental Oncology. — 2012. — Т. 34, № 1. — С. 49-52. — Бібліогр.: 24 назв. — англ.

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Digital Library of Periodicals of National Academy of Sciences of Ukraine
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author Berzina, D.
Irmejs, A.
Kalniete, D.
Borosenko, V.
Nakazawa-Miklasevica, M.
Ribenieks, K.
Trofimovics, G.
Gardovskis, J.
Miklasevics, E.
author_facet Berzina, D.
Irmejs, A.
Kalniete, D.
Borosenko, V.
Nakazawa-Miklasevica, M.
Ribenieks, K.
Trofimovics, G.
Gardovskis, J.
Miklasevics, E.
citation_txt Novel germline MLH1 and MSH2 mutations in latvian Lynch syndrome families / D. Berzina, A. Irmejs, D. Kalniete, V. Borosenko, M. Nakazawa-Miklasevica, K. Ribenieks, G. Trofimovics, J. Gardovskis, E. Miklasevics // Experimental Oncology. — 2012. — Т. 34, № 1. — С. 49-52. — Бібліогр.: 24 назв. — англ.
collection DSpace DC
container_title Experimental Oncology
description Background/Aims: Hereditary non-polyposis colorectal cancer or Lynch syndrome is an autosomal dominantly inherited disease with high penetrance, mostly due to mutations in the MLH1 and MSH2 genes. The aim of this study is to investigate the mutation spectrum of the MLH1 and MSH2 genes. Methodology: High risk colorectal cancer families were selected from overall 1053 consecutive patients. Screening of germline mutations in the MLH1 and MSH2 was performed by direct sequencing and multiplex ligation-dependent probe amplification. Results: Ten patients fulfilled the Amsterdam I/II criteria and Bethesda guidelines of the Lynch syndrome. Three novel mutations were identified in MLH1 and MSH2 genes, as well as two known mutations in the MLH1 gene. Large rearrangements in the MLH1 gene were found in two patients. Conclusions: The mutations in the MLH1 and MSH2 genes in Latvian high-risk families are highly heterogeneous. Combination of direct sequencing and MLPA is the most appropriate molecular method of detecting hereditary nonpolyposis colorectal cancer patients and family members at risk.
first_indexed 2025-11-26T08:23:47Z
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publishDate 2012
publisher Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України
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spelling Berzina, D.
Irmejs, A.
Kalniete, D.
Borosenko, V.
Nakazawa-Miklasevica, M.
Ribenieks, K.
Trofimovics, G.
Gardovskis, J.
Miklasevics, E.
2018-06-19T12:13:18Z
2018-06-19T12:13:18Z
2012
Novel germline MLH1 and MSH2 mutations in latvian Lynch syndrome families / D. Berzina, A. Irmejs, D. Kalniete, V. Borosenko, M. Nakazawa-Miklasevica, K. Ribenieks, G. Trofimovics, J. Gardovskis, E. Miklasevics // Experimental Oncology. — 2012. — Т. 34, № 1. — С. 49-52. — Бібліогр.: 24 назв. — англ.
1812-9269
https://nasplib.isofts.kiev.ua/handle/123456789/138723
Background/Aims: Hereditary non-polyposis colorectal cancer or Lynch syndrome is an autosomal dominantly inherited disease with high penetrance, mostly due to mutations in the MLH1 and MSH2 genes. The aim of this study is to investigate the mutation spectrum of the MLH1 and MSH2 genes. Methodology: High risk colorectal cancer families were selected from overall 1053 consecutive patients. Screening of germline mutations in the MLH1 and MSH2 was performed by direct sequencing and multiplex ligation-dependent probe amplification. Results: Ten patients fulfilled the Amsterdam I/II criteria and Bethesda guidelines of the Lynch syndrome. Three novel mutations were identified in MLH1 and MSH2 genes, as well as two known mutations in the MLH1 gene. Large rearrangements in the MLH1 gene were found in two patients. Conclusions: The mutations in the MLH1 and MSH2 genes in Latvian high-risk families are highly heterogeneous. Combination of direct sequencing and MLPA is the most appropriate molecular method of detecting hereditary nonpolyposis colorectal cancer patients and family members at risk.
This study was supported by The National Research Programme “Development of new prevention, treatment, diagnostics means and practices and biomedicine technologies for improvement of public health”.
en
Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України
Experimental Oncology
Original contributions
Novel germline MLH1 and MSH2 mutations in latvian Lynch syndrome families
Article
published earlier
spellingShingle Novel germline MLH1 and MSH2 mutations in latvian Lynch syndrome families
Berzina, D.
Irmejs, A.
Kalniete, D.
Borosenko, V.
Nakazawa-Miklasevica, M.
Ribenieks, K.
Trofimovics, G.
Gardovskis, J.
Miklasevics, E.
Original contributions
title Novel germline MLH1 and MSH2 mutations in latvian Lynch syndrome families
title_full Novel germline MLH1 and MSH2 mutations in latvian Lynch syndrome families
title_fullStr Novel germline MLH1 and MSH2 mutations in latvian Lynch syndrome families
title_full_unstemmed Novel germline MLH1 and MSH2 mutations in latvian Lynch syndrome families
title_short Novel germline MLH1 and MSH2 mutations in latvian Lynch syndrome families
title_sort novel germline mlh1 and msh2 mutations in latvian lynch syndrome families
topic Original contributions
topic_facet Original contributions
url https://nasplib.isofts.kiev.ua/handle/123456789/138723
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