Variant: rs104894263 

    present in Gene: MEN1
    present in Chromosome: 11
    Position on Chromosome: 64809695
    Alleles of this Variant: G/C

rs104894263 in MEN1 gene and Multiple Endocrine Neoplasia Type 1 PMID 10229909 1999 A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.