Novel Mutations in Serbian MEN1 Patients: Genotype-phenotype Correlation

Journal of Medical Biochemistry
Tatjana IsailovicSvetozar Damjanovic

Abstract

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 MEN1 gene predict clinical presentation of affected heterozygotes or not, is still a matter of a debate. Clinical and genetic analysis of 90 consecutive MEN1 patients was performed in a retrospective, single - center study. MEN1 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 (W220G, 941delG, 1088del7, 1184insA, 1473del10, 1602del17) and one large deletion of exon 8. Truncating mutations predicted development of pNETs (OR=5.8, 95% CI 1.7 - 19.7%) and PHPT (OR=4.3, 95% CI 1.5 - 12.4%). 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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Methods Mentioned

BETA
biopsy
PCR

Software Mentioned

ABI DNA Sequencing Analysis
. NET
Coffalyser

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