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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| Published in: | Experimental Oncology |
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| Date: | 2012 |
| Main Authors: | , , , , , , , , |
| Format: | Article |
| Language: | English |
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Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України
2012
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| Online Access: | https://nasplib.isofts.kiev.ua/handle/123456789/138723 |
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| Journal Title: | Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| Cite this: | 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| _version_ | 1862573836081299456 |
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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.
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| first_indexed | 2025-11-26T08:23:47Z |
| format | Article |
| fulltext | |
| id | nasplib_isofts_kiev_ua-123456789-138723 |
| institution | Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| issn | 1812-9269 |
| language | English |
| last_indexed | 2025-11-26T08:23:47Z |
| publishDate | 2012 |
| publisher | Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України |
| record_format | dspace |
| 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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