Gene: MEN1

Alternate names for this Gene: MEAI|SCG2

Gene Summary: This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathways and processes by altering chromatin structure through the modification of histones.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: menin 1

Type of Gene: protein-coding

rs1555165488 in MEN1 gene and Hyperparathyroidism, Primary PMID 29174091 2018 Pancreatic hemi-agenesis in MEN1: A clinical report.

rs104894256 in MEN1 gene and Multiple Endocrine Neoplasia Type 1 PMID 12112656 2002 Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

PMID 10617276 1999 Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene.

PMID 9989505 1999 Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.

PMID 11739416 2001 Guidelines for diagnosis and therapy of MEN type 1 and type 2.

PMID 9888389 1999 Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.

PMID 11102994 2000 A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1).

PMID 9740255 1998 Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas.

PMID 9820618 1998 MEN1 gene mutations in 12 MEN1 families and their associated tumors.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 14686752 2003 A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome.

PMID 9683585 1998 Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.

PMID 11134142 2000 Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 12699448 2003 Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.

PMID 10229909 1999 A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1.

PMID 12417605 2002 A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism.

PMID 10993647 2000 Identification of MEN1 gene mutations in families with MEN 1 and related disorders.

PMID 15714081 2005 Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 14992727 2004 Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.

PMID 22723327 2012 Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1).

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 9215689 1997 Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

PMID 9709921 1998 Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.

PMID 10576763 1999 Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).

PMID 15730416 2005 Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.

PMID 9103196 1997 Positional cloning of the gene for multiple endocrine neoplasia-type 1.

PMID 17853334 2007 Developing effective screening strategies in multiple endocrine neoplasia type 1 (MEN 1) on the basis of clinical and sequencing data of German patients with MEN 1.

PMID 21369528 2011 Multiple endocrine neoplasia type 1 and adrenal Cushing's.

PMID 22026581 2012 Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain.

PMID 9463336 1998 Characterization of mutations in patients with multiple endocrine neoplasia type 1.

PMID 10439966 1999 Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1.

PMID 12108687 2002 A patient with multiple endocrine neoplasia type 1 with a novel MEN1 gene mutation (237delC).

PMID 11836268 2002 Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study.

PMID 17623761 2007 Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases.

PMID 29174091 2018 Pancreatic hemi-agenesis in MEN1: A clinical report.

PMID 25309785 2014 Genetic and epigenetic analysis in korean patients with multiple endocrine neoplasia type 1.

PMID 12652570 2003 Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.

PMID 24959251 2014 Multiple endocrine neoplasia type 1 associated with breast cancer: A case report and review of the literature.

PMID 26767918 2016 Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years.

PMID 22090276 2012 Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: restoration of expression and activity by CHIP siRNA.

PMID 23648481 2013 MEN1 is a melanoma tumor suppressor that preserves genomic integrity by stimulating transcription of genes that promote homologous recombination-directed DNA repair.

PMID 12509449 2003 The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene.

PMID 11221882 2001 Differential binding of the Menin tumor suppressor protein to JunD isoforms.

PMID 26515642 2015 A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma.

PMID 29036195 2017 Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.

PMID 10612827 2000 UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

PMID 28736585 2017 Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1.

PMID 25824098 2015 Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1.

PMID 26224587 2016 Cinacalcet therapy in patients affected by primary hyperparathyroidism associated to Multiple Endocrine Neoplasia Syndrome type 1 (MEN1).

PMID 24443791 2014 Impact of long-acting octreotide in patients with early-stage MEN1-related duodeno-pancreatic neuroendocrine tumours.

PMID 17235589 2007 Adrenal involvement in multiple endocrine neoplasia type 1: results of 7 years prospective screening.

PMID 19350320 2009 Screening of patients with multiple endocrine neoplasia type 1 (MEN-1): a critical analysis of its value.

PMID 11578300 2001 Prospective controlled trial of a standardized meal stimulation test in the detection of pancreaticoduodenal endocrine tumours in patients with multiple endocrine neoplasia type 1.

PMID 28321559 2017 Is Routine Screening of Young Asymptomatic MEN1 Patients Necessary?

PMID 29455199 2018 Clinical Features and Response to Treatment of Prolactinomas in Children and Adolescents: A Retrospective Single-Centre Analysis and Review of the Literature.

PMID 23093699 2013 MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism.

PMID 17879353 2008 Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.

PMID 24599222 2014 Insulinoma in childhood: clinical, radiological, molecular and histological aspects of nine patients.

PMID 24915123 2014 Natural course and survival of neuroendocrine tumors of thymus and lung in MEN1 patients.

PMID 9215690 1997 Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.

PMID 20833329 2010 Multiple endocrine neoplasia type 1 (MEN1).

PMID 15635078 2005 A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing.

PMID 9437237 1997 Menin mutations in patients with multiple endocrine neoplasia type 1.

PMID 12791038 2003 In this study, we identified three novel MEN1 germline mutations (969C >A, 973G >C and 1213C >T) and one previously reported mutation (200-201insAGCCC).

PMID 9832038 1998 Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.

PMID 24997771 2014 p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?

PMID 22549346 2012 Novel association of thymic carcinoid with a germline mutation in a kindred with multiple endocrine neoplasia 1 (MEN1).

PMID 10395246 1998 We identified a novel nonsense mutation(R29X) of the MEN1 gene in a familial multiple endocrine neoplasia type 1 (MEN1) patient.

PMID 10090472 1999 Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects.

PMID 10861493 2000 A 5178-9g--> A splice donor site mutation in intron 4 of the MEN1 gene causing multiple endocrine neoplasia type 1

PMID 22470073 2012 Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype.

PMID 10424788 1999 A novel splicing mutation (894-9 G --> A) of the MEN1 gene responsible for multiple endocrine neoplasia type 1.

PMID 12050235 2002 Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.

PMID 15522929 2005 Gonadotroph tumor associated with multiple endocrine neoplasia type 1.

PMID 23154721 2012 A puzzling case of phospho-soda-induced hypocalcemia in a patient with multiple endocrine neoplasia type 1-associated primary hyperparathyroidism.

PMID 10664520 2000 MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.

PMID 22666734 2012 Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1.

PMID 12807514 2003 Multiple endocrine neoplasia type 1 (MEN1): genetic and clinical analysis in the Southern Chinese.

PMID 21819486 2011 Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.

PMID 15254225 2004 Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway.

PMID 20960638 2008 Gene symbol: MEN1. Disease: Multiple endocrine neoplasia 1.

rs104894263 in MEN1 gene and Neoplastic Syndromes, Hereditary PMID 14508515 2003 Menin, a tumor suppressor, associates with nonmuscle myosin II-A heavy chain.

PMID 21917868 2011 Unique gene expression profile associated with an early-onset multiple endocrine neoplasia (MEN1)-associated pituitary adenoma.

PMID 9215689 1997 Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

PMID 21819486 2011 Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.

PMID 22090276 2012 Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: restoration of expression and activity by CHIP siRNA.

PMID 23648481 2013 MEN1 is a melanoma tumor suppressor that preserves genomic integrity by stimulating transcription of genes that promote homologous recombination-directed DNA repair.

PMID 9439676 1997 Germline mutations of the MEN1 gene in Japanese kindred with multiple endocrine neoplasia type 1.

PMID 19068082 2009 MEN1 gene and its mutations: basic and clinical implications.

PMID 12016470 2002 Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism.

PMID 12652570 2003 Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.

PMID 15870131 2005 Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism.

PMID 22470073 2012 Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype.

PMID 10090472 1999 Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects.

PMID 12049533 2002 Genotype-phenotype analysis in multiple endocrine neoplasia type 1.

PMID 17853334 2007 Developing effective screening strategies in multiple endocrine neoplasia type 1 (MEN 1) on the basis of clinical and sequencing data of German patients with MEN 1.

PMID 22327296 2012 The same pocket in menin binds both MLL and JUND but has opposite effects on transcription.

PMID 10993646 2000 Identification of somatic mutations of the MEN1 gene in sporadic endocrine tumours.

PMID 23052745 2013 Analysis of genotype-phenotype correlations and survival outcomes in patients with primary hyperparathyroidism caused by multiple endocrine neoplasia type 1: the experience at a single institution.

PMID 12112656 2002 Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

PMID 9506756 1998 Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese.

PMID 9683585 1998 Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.

PMID 15714081 2005 Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.

PMID 17623761 2007 Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases.

PMID 12108687 2002 A patient with multiple endocrine neoplasia type 1 with a novel MEN1 gene mutation (237delC).

PMID 27212590 2016 Parathyroid carcinoma and atypical parathyroid neoplasms in MEN1 patients; A clinico-pathologic challenge. The MD Anderson case series and review of the literature.

PMID 12746426 2003 Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients.

PMID 10664520 2000 MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.

PMID 9888389 1999 Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.

PMID 11836268 2002 Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study.

PMID 10594843 1999 MEN1 gene mutations in sporadic neuroendocrine tumors of foregut derivation.

PMID 10849016 2000 Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding.

PMID 26239674 2015 MEN1 c.825‑1G>A mutation in a family with multiple endocrine neoplasia type 1: A case report.

PMID 15670192 2005 Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing.

PMID 10617276 1999 Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene.

PMID 11578300 2001 Prospective controlled trial of a standardized meal stimulation test in the detection of pancreaticoduodenal endocrine tumours in patients with multiple endocrine neoplasia type 1.

PMID 12509449 2003 The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene.

PMID 11524904 2001 10 Swiss kindreds with multiple endocrine neoplasia type 1: assessment of screening methods.

PMID 19074834 2008 Menin promotes the Wnt signaling pathway in pancreatic endocrine cells.

PMID 9989505 1999 Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.

PMID 12213668 2002 Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism.

PMID 9463336 1998 Characterization of mutations in patients with multiple endocrine neoplasia type 1.

PMID 9103196 1997 Positional cloning of the gene for multiple endocrine neoplasia-type 1.

PMID 25309785 2014 Genetic and epigenetic analysis in korean patients with multiple endocrine neoplasia type 1.

PMID 18753104 2009 Diagnosis by serendipity: Cushing syndrome attributable to cortisol-producing adrenal adenoma as the initial manifestation of multiple endocrine neoplasia type 1 due to a rare splicing site MEN1 gene mutation.

PMID 24599222 2014 Insulinoma in childhood: clinical, radiological, molecular and histological aspects of nine patients.

PMID 10856877 2000 Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region.

PMID 23093699 2013 MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism.

PMID 15635078 2005 A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing.

PMID 17879353 2008 Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.

PMID 20833329 2010 Multiple endocrine neoplasia type 1 (MEN1).

PMID 16563611 2006 Characteristics of the Danish families with multiple endocrine neoplasia type 1.

PMID 15026366 2004 Menin inactivation leads to loss of transforming growth factor beta inhibition of parathyroid cell proliferation and parathyroid hormone secretion.

PMID 9832038 1998 Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.

PMID 22549346 2012 Novel association of thymic carcinoid with a germline mutation in a kindred with multiple endocrine neoplasia 1 (MEN1).

PMID 10730900 1999 Multiple endocrine neoplasia type 1.

PMID 26767918 2016 Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years.

PMID 10027401 1999 Mutations and allelic deletions of the MEN1 gene are associated with a subset of sporadic endocrine pancreatic and neuroendocrine tumors and not restricted to foregut neoplasms.

PMID 10576763 1999 Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).

PMID 15522929 2005 Gonadotroph tumor associated with multiple endocrine neoplasia type 1.

PMID 23154721 2012 A puzzling case of phospho-soda-induced hypocalcemia in a patient with multiple endocrine neoplasia type 1-associated primary hyperparathyroidism.

PMID 22026581 2012 Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 18045958 2007 MEN1 mutation analysis in Chinese patients with multiple endocrine neoplasia type 1.

PMID 10980535 2000 Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemia.

PMID 9215690 1997 Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.

PMID 22666734 2012 Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1.

PMID 9747036 1998 Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1.

PMID 15254225 2004 Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway.

PMID 12807514 2003 Multiple endocrine neoplasia type 1 (MEN1): genetic and clinical analysis in the Southern Chinese.

PMID 11454510 2001 Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant?

PMID 17711922 2007 Secretin-receptor and secretin-receptor-variant expression in gastrinomas: correlation with clinical and tumoral features and secretin and calcium provocative test results.

PMID 9354421 1997 Somatic mutations of the MEN1 tumor suppressor gene in sporadic gastrinomas and insulinomas.