| dc:title | Novel Mutations in Serbian Men1 Patients: Genotype-Phenotype Correlation |
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| dc:creator | Tatjana, Isailović |
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| dc:creator | Ivana, Milićević |
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| dc:creator | Djuro, Macut |
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| dc:creator | Milan, Petakov |
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| dc:creator | Sanja, Ognjanović |
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| dc:creator | Bojana, Popović |
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| dc:creator | Božić Antić, Ivana |
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| dc:creator | Tamara, Bogavac |
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| dc:creator | Kovačević Valentina, Elezović |
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| dc:creator | Dušan, Ilić |
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| dc:creator | Svetozar, Damjanović |
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| dc:subject | multiple endocrine neoplasia type 1 |
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| dc:subject | MEN1 gene |
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| dc:subject | novel mutations |
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| dc:subject | genotype-phenotype correlation |
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| dc:subject | truncating mutations |
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| dc:subject | point mutations |
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| dc:subject | exon 8 deletion |
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| dc:subject | pancreatic neuroendocrine tumors |
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| dc:subject | primary hyperparathyroidism |
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| dc:subject | pituitary adenoma |
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| dc:subject | hereditary cancer |
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| dc:description | Background: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome characterized by the occurrence of primary hyperparathyroidism (PHPT), pituitary adenoma (PA) and pancreatic neuroendocrine tumor (pNET). Whether the underlying mutations in M EN1 gene predict clinical presentation of affected heterozygotes or not, is still a matter of a debate. Methods: Clinical and genetic analysis of 90 consecutive MEN1 patients was performed in a retrospective, single - center study. Results: M EN1 mutation was found in 67 (74.4% ) patients belonging to 31 different families. Twenty nine different heteozygous mutations were found, including 6 novel point mutations (W 220G , 941delG, 1088del7, 1184insA, 1473del10, 1602del17) and one large deletion of exon 8. Truncating mutations predicted development of pNETs (O R = 5.8, 95% CI 1.7 - 19.7%) and PHPT (O R = 4.3, 95% CI 1.5 - 12.4%). Conclusions: Large number of novel mutations among MEN1 patients confirmed previously reported data. PNETs and PHPT were more frequent in patients with truncating mutations. |
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| dc:publisher | Soc Medical Biochemists Serbia |
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| dc:date | 2019 |
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| dc:type | info:eu-repo/semantics/article |
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| dc:type | info:eu-repo/semantics/publishedVersion |
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| dc:identifier | https://stomatoloskifakultet.rs/nauka/publikacija/756 |
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| dc:identifier | ISSN 1452-8258 |
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| dc:source | Journal of medical biochemistry. 38(1): 38-44 |
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| dc:language | en |
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| dc:rights | info:eu-repo/semantics/closedAccess |
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| dc:rights | Sva prava zadržana |
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