The Genetic Multiplicity- Multiple Endocrine Neoplasia Type I - The Genetic Multiplicity- Multiple Endocrine Neoplasia Type I - Open Access Pub

Multiple endocrine neoplasia type 1 (MEN1) is a syndrome emerging from characteristic mutations of MEN1 gene with concurrently enunciated multiple endocrine and tumours and associated non-endocrine neoplasm. Previously designated as Werner’s syndrome, MEN1 syndrome denominates genomic mutation within chromosome 11q13 or a tumour suppressor gene with a distinctive protein product nomenclated as “menin”. MEN1 syndrome demonstrates an autosomal dominant pattern of disease inheritance where genomic mutations delineate a comprehensive (100%) disease penetrance. MEN1 gene was initially identified in 1997 upon chromosome 11q13. Although twelve genetic mutations were primarily identified, currently beyond eighteen hundred genomic mutations are scripted1, 2. MEN1 syndrome is comprised of diverse combination of twenty or more endocrine and non-endocrine tumours exemplifying a classic triad of pituitary, parathyroid and pancreatic neoplasm. Diverse non endocrine tumours enunciated with MEN1 syndrome are denominated with meningioma, ependymoma or angiofibroma1, 2. Endocrine tumours are discerned on account of excessive hormonal secretion engendered from various neoplasm or on account of neoplastic evolution. Approximately 10% instances can occur due to a de-novo genomic variant. Offspring of an individual with MEN1 syndrome quantifies a 50% possibility of inheriting the genomic variant. Cogent prenatal diagnosis can be determined in instances where specific genomic variant of a particular family is known. Physical, psychological and social restrictions are prevalent with MEN1 syndrome. Heterozygotes with MEN1 genetic variant are denominated as carriers and manifest a two- fold possible mortality1, 2. DOI10.14302/issn.2690-4837.ijip-20-3176 Disease Characteristics MEN1 demonstrates variable familial clustering with a prevalence of 1:30,000 to 1 in 500,000 individuals. Majority (90%) of subjects of MEN1 are familial whereas around 10% instances are sporadic. Implicated individuals (100%) delineate a parathyroid adenoma by 50 years of age. Mortality with MEN1 syndrome is enunciated by complications engendered due to pancreatic or gastrointestinal neuroendocrine tumours. Preponderant chromosomal mutations are family specific whereas three fourths (75%) are inactivating mutations. An estimated 5% to 20% subjects harbour genetic mutations within MEN1 gene encoding region. MEN1 syndrome lacks a genotype- phenotype concurrence, particularly within various enunciated neoplasms1, 2. Tumour suppressor gene product menin is non-homologous with specific, known proteins although