Polymorphism of DNA mismatch repair genes in endometrial cancer
Endometrial cancer (EC) is the second most common malignancy associated with hereditary non-polyposis colorectal cancer (HNPCC) family. The development of HNPCC is associated with defects in DNA mismatch repair (MMR) pathway resulting in microsatellite instability (MSI). MSI is present in a greater...
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| Veröffentlicht in: | Experimental Oncology |
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| Datum: | 2015 |
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Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України
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| Zitieren: | Polymorphism of DNA mismatch repair genes in endometrial cancer / T. Poplawski, A. Sobczuk, J. Sarnik, E. Pawlowska, J. Blasiak // Experimental Oncology. — 2015. — Т. 37, № 1. — С. 44-47. — Бібліогр.: 29 назв. — англ. |
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Poplawski, T. Sobczuk, A. Sarnik, J. Pawlowska, E. Blasiak, J. 2019-01-21T21:26:54Z 2019-01-21T21:26:54Z 2015 Polymorphism of DNA mismatch repair genes in endometrial cancer / T. Poplawski, A. Sobczuk, J. Sarnik, E. Pawlowska, J. Blasiak // Experimental Oncology. — 2015. — Т. 37, № 1. — С. 44-47. — Бібліогр.: 29 назв. — англ. 1812-9269 https://nasplib.isofts.kiev.ua/handle/123456789/145454 Endometrial cancer (EC) is the second most common malignancy associated with hereditary non-polyposis colorectal cancer (HNPCC) family. The development of HNPCC is associated with defects in DNA mismatch repair (MMR) pathway resulting in microsatellite instability (MSI). MSI is present in a greater number of EC than can be accounted for by inherited MMR mutations, therefore alternative mechanisms may underline defective MMR in EC, including polymorphic variation. Aim: We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G>A (rs4987188) transition in the hMSH2 gene resulting in a Gly22Asp substitution and a –93G>A (rs1800734) transition in the promoter of the hMLH1 gene. Material and methods: These polymorphisms were genotyped in DNA from peripheral blood lymphocytes of 100 EC patients and 100 age-matched women by restriction fragment length polymorphism PCR. Results: A positive association (OR 4.18; 95% CI 2.23–7.84) was found for the G/A genotype of the –93G>A polymorphism of the hMLH1 gene and EC occurrence. On the other hand, the A allele of this polymorphism was associated with decreased EC occurrence. The Gly/Gly genotype slightly increased the effect of the –93G>A-G/A genotype (OR 4.52; CI 2.41–8.49). Our results suggest that the –93G>A polymorphism of the hMLH1 gene singly and in combination with the Gly322Asp polymorphism of the hMSH2 gene may increase the risk of EC. Key Words: hMSH2, hMLH1, endometrial cancer, genetic polymorphism, MMR. en Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України Experimental Oncology Original contributions Polymorphism of DNA mismatch repair genes in endometrial cancer Article published earlier |
| institution |
Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| collection |
DSpace DC |
| title |
Polymorphism of DNA mismatch repair genes in endometrial cancer |
| spellingShingle |
Polymorphism of DNA mismatch repair genes in endometrial cancer Poplawski, T. Sobczuk, A. Sarnik, J. Pawlowska, E. Blasiak, J. Original contributions |
| title_short |
Polymorphism of DNA mismatch repair genes in endometrial cancer |
| title_full |
Polymorphism of DNA mismatch repair genes in endometrial cancer |
| title_fullStr |
Polymorphism of DNA mismatch repair genes in endometrial cancer |
| title_full_unstemmed |
Polymorphism of DNA mismatch repair genes in endometrial cancer |
| title_sort |
polymorphism of dna mismatch repair genes in endometrial cancer |
| author |
Poplawski, T. Sobczuk, A. Sarnik, J. Pawlowska, E. Blasiak, J. |
| author_facet |
Poplawski, T. Sobczuk, A. Sarnik, J. Pawlowska, E. Blasiak, J. |
| topic |
Original contributions |
| topic_facet |
Original contributions |
| publishDate |
2015 |
| language |
English |
| container_title |
Experimental Oncology |
| publisher |
Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України |
| format |
Article |
| description |
Endometrial cancer (EC) is the second most common malignancy associated with hereditary non-polyposis colorectal cancer (HNPCC) family. The development of HNPCC is associated with defects in DNA mismatch repair (MMR) pathway resulting in microsatellite instability (MSI). MSI is present in a greater number of EC than can be accounted for by inherited MMR mutations, therefore alternative mechanisms may underline defective MMR in EC, including polymorphic variation. Aim: We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G>A (rs4987188) transition in the hMSH2 gene resulting in a Gly22Asp substitution and a –93G>A (rs1800734) transition in the promoter of the hMLH1 gene. Material and methods: These polymorphisms were genotyped in DNA from peripheral blood lymphocytes of 100 EC patients and 100 age-matched women by restriction fragment length polymorphism PCR. Results: A positive association (OR 4.18; 95% CI 2.23–7.84) was found for the G/A genotype of the –93G>A polymorphism of the hMLH1 gene and EC occurrence. On the other hand, the A allele of this polymorphism was associated with decreased EC occurrence. The Gly/Gly genotype slightly increased the effect of the –93G>A-G/A genotype (OR 4.52; CI 2.41–8.49). Our results suggest that the –93G>A polymorphism of the hMLH1 gene singly and in combination with the Gly322Asp polymorphism of the hMSH2 gene may increase the risk of EC. Key Words: hMSH2, hMLH1, endometrial cancer, genetic polymorphism, MMR.
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| issn |
1812-9269 |
| url |
https://nasplib.isofts.kiev.ua/handle/123456789/145454 |
| citation_txt |
Polymorphism of DNA mismatch repair genes in endometrial cancer / T. Poplawski, A. Sobczuk, J. Sarnik, E. Pawlowska, J. Blasiak // Experimental Oncology. — 2015. — Т. 37, № 1. — С. 44-47. — Бібліогр.: 29 назв. — англ. |
| work_keys_str_mv |
AT poplawskit polymorphismofdnamismatchrepairgenesinendometrialcancer AT sobczuka polymorphismofdnamismatchrepairgenesinendometrialcancer AT sarnikj polymorphismofdnamismatchrepairgenesinendometrialcancer AT pawlowskae polymorphismofdnamismatchrepairgenesinendometrialcancer AT blasiakj polymorphismofdnamismatchrepairgenesinendometrialcancer |
| first_indexed |
2025-12-07T16:32:40Z |
| last_indexed |
2025-12-07T16:32:40Z |
| _version_ |
1850867879902183424 |