The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment
Abstract The single nucleotide polymorphism in NOD2 (rs2066847) is associated with conditions that may predispose to the development of gastrointestinal disorders, as well as the known BRCA1 and BRCA2 variants classified as risk factors in many cancers. In our study, we analyzed these variants in a...
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Nature Portfolio
2025-01-01
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| Online Access: | https://doi.org/10.1038/s41598-025-86249-8 |
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| author | Jarosław Matykiewicz Wioletta Adamus-Białek Monika Wawszczak-Kasza Bartosz Molasy Magdalena Kołomańska Rusłan Oblap Łukasz Madej Dorota Kozieł Stanisław Głuszek |
| author_facet | Jarosław Matykiewicz Wioletta Adamus-Białek Monika Wawszczak-Kasza Bartosz Molasy Magdalena Kołomańska Rusłan Oblap Łukasz Madej Dorota Kozieł Stanisław Głuszek |
| author_sort | Jarosław Matykiewicz |
| collection | DOAJ |
| description | Abstract The single nucleotide polymorphism in NOD2 (rs2066847) is associated with conditions that may predispose to the development of gastrointestinal disorders, as well as the known BRCA1 and BRCA2 variants classified as risk factors in many cancers. In our study, we analyzed these variants in a group of patients with pancreatitis and pancreatic cancer to clarify their role in pancreatic disease development. The DNA was isolated from whole blood samples of 553 patients with pancreatitis, 83 patients with pancreatic cancer, 44 cases of other pancreatic diseases, and 116 healthy volunteers. The NOD2 (rs2066847), BRCA1 (rs80357914) and BRCA2 (rs276174813) were genotyped. The statistically significant 3-fold increased risk of pancreatic cancer was detected among the patients with rs2066847 polymorphism (OR = 2.77, p-value = 0.019). We did not find the studied polymorphisms in BRCA1 (rs80357914) and BRCA2 (rs276174813). However, the adjacent polymorphisms have been detected only in patients with pancreatic diseases. The studied variant in NOD2 occurs more frequently in pancreatic patients and significantly increases the risk of pancreatic cancer. It can be considered as a genetic risk factor that predisposes to cancer development. The analyzed regions in BRCA1 and BRCA2 may be a potential target in further search for a genetic marker of pancreatic diseases. |
| format | Article |
| id | doaj-art-3c1a2c3d0c804ec3b67d6d44a2b2d906 |
| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Nature Portfolio |
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| series | Scientific Reports |
| spelling | doaj-art-3c1a2c3d0c804ec3b67d6d44a2b2d9062025-01-19T12:17:43ZengNature PortfolioScientific Reports2045-23222025-01-0115111110.1038/s41598-025-86249-8The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessmentJarosław Matykiewicz0Wioletta Adamus-Białek1Monika Wawszczak-Kasza2Bartosz Molasy3Magdalena Kołomańska4Rusłan Oblap5Łukasz Madej6Dorota Kozieł7Stanisław Głuszek8Institute of Medical Sciences, Jan Kochanowski University of KielceInstitute of Medical Sciences, Jan Kochanowski University of KielceInstitute of Medical Sciences, Jan Kochanowski University of KielceInstitute of Medical Sciences, Jan Kochanowski University of KielceInstitute of Medical Sciences, Jan Kochanowski University of KielceInstitute of Medical Sciences, Jan Kochanowski University of KielceInstitute of Medical Sciences, Jan Kochanowski University of KielceInstitute of Medical Sciences, Jan Kochanowski University of KielceInstitute of Medical Sciences, Jan Kochanowski University of KielceAbstract The single nucleotide polymorphism in NOD2 (rs2066847) is associated with conditions that may predispose to the development of gastrointestinal disorders, as well as the known BRCA1 and BRCA2 variants classified as risk factors in many cancers. In our study, we analyzed these variants in a group of patients with pancreatitis and pancreatic cancer to clarify their role in pancreatic disease development. The DNA was isolated from whole blood samples of 553 patients with pancreatitis, 83 patients with pancreatic cancer, 44 cases of other pancreatic diseases, and 116 healthy volunteers. The NOD2 (rs2066847), BRCA1 (rs80357914) and BRCA2 (rs276174813) were genotyped. The statistically significant 3-fold increased risk of pancreatic cancer was detected among the patients with rs2066847 polymorphism (OR = 2.77, p-value = 0.019). We did not find the studied polymorphisms in BRCA1 (rs80357914) and BRCA2 (rs276174813). However, the adjacent polymorphisms have been detected only in patients with pancreatic diseases. The studied variant in NOD2 occurs more frequently in pancreatic patients and significantly increases the risk of pancreatic cancer. It can be considered as a genetic risk factor that predisposes to cancer development. The analyzed regions in BRCA1 and BRCA2 may be a potential target in further search for a genetic marker of pancreatic diseases.https://doi.org/10.1038/s41598-025-86249-8BRCA1BRCA2NOD2PancreatitisPancreatic cancer |
| spellingShingle | Jarosław Matykiewicz Wioletta Adamus-Białek Monika Wawszczak-Kasza Bartosz Molasy Magdalena Kołomańska Rusłan Oblap Łukasz Madej Dorota Kozieł Stanisław Głuszek The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment Scientific Reports BRCA1 BRCA2 NOD2 Pancreatitis Pancreatic cancer |
| title | The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment |
| title_full | The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment |
| title_fullStr | The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment |
| title_full_unstemmed | The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment |
| title_short | The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment |
| title_sort | known genetic variants of brca1 brca2 and nod2 in pancreatitis and pancreatic cancer risk assessment |
| topic | BRCA1 BRCA2 NOD2 Pancreatitis Pancreatic cancer |
| url | https://doi.org/10.1038/s41598-025-86249-8 |
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