• Test code: 01717
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit

Invitae Multiple Endocrine Neoplasia Type 1 Test

Test description

This test analyzes the MEN1 gene, which is associated with multiple endocrine neoplasia type 1 (MEN1). MEN1 is a cancer predisposition condition that causes an increased risk of developing neuroendocrine tumors of the parathyroid, anterior pituitary, and pancreas.

Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

Order test

Primary panel (1 gene)

Alternative tests to consider

MEN1 can also be ordered as part of a broader panel to test for different types of hereditary cancer, including colon cancer. Depending on the individual’s clinical and family history, one of these broader panels may be appropriate. Any of these broader panels can be ordered for no additional charge.

  • multiple endocrine neoplasia type 1 (MEN1)

MEN1 syndrome is associated with a high risk of developing tumors of the endocrine system, primarily in the parathyroid gland, anterior pituitary, adrenal gland and pancreas. Other tumors may also occur, including gastrinomas and carcinoid tumors. Symptoms of MEN1 usually begin in adulthood, with parathyroid disease manifesting by age of 50 in nearly all affected individuals. Symptoms can vary significantly among family members, and affected individuals may present with different tumor types or symptoms. Other non-endocrine tumors may also be present, including benign thyroid lesions (such as goiter), skin tumors (angiofibromas) and lipomas (benign fatty tissue tumors).

Lifetime cancer risks in individuals with MEN1 are very high: Parathyroid tumors develop in nearly all affected individuals by age 50 and are the first manifesting feature in 90% of cases.

Tumor typeTumor/cancer risk
Parathyroid Nearly 100%
Anterior pituitary 10%-55%
Pancreatic islet cell 30%-70%
Thyroid (including goiter) 25%
Adrenocortical carcinoma 1%-13%
Carcinoid (thymic, bronchial, gastric) 10%
Meningioma 8%

Genetic testing identifies pathogenic variants in approximately 80%-90% of individuals who meet clinical diagnostic criteria for MEN1 and have a family history of MEN1-related tumors. A pathogenic variant is found in 65% of cases of individuals who meet diagnostic criteria but have no family history.

MEN1 is inherited in an autosomal dominant pattern. Most cases are inherited, but approximately 10% occur as the result of a spontaneous de novo mutation.

Testing for MEN1 may be considered for individuals with a personal and/or family history of features, including:

  • two MEN1 tumor types in the same individual
  • individual with suspicious (i.e. multiple parathyroid adenomas before the age of 40 yr; recurrent hyperparathyroidism; gastrinoma or multiple pancreatic NET at any age) or atypical presentation (i.e. development of two nonclassical MEN1- associated tumors, e.g. parathyroid and adrenal tumor) of MEN1
  • asymptomatic individual with a relative with a known familial pathogenic variant in MEN1
  • asymptomatic individual with a first degree relative with one MEN1 related tumor

Clinical practice guidelines for MEN1 have been proposed:

  1. Vergés, B, et al. Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. J. Clin. Endocrinol. Metab. 2002; 87(2):457-65. doi: 10.1210/jcem.87.2.8145. PMID: 11836268
  2. Thakker, RV. Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4). Mol. Cell. Endocrinol. 2014; 386(1-2):2-15. doi: 10.1016/j.mce.2013.08.002. PMID: 23933118
  3. Ellard, S, et al. Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. Clin. Endocrinol. (Oxf). 2005; 62(2):169-75. doi: 10.1111/j.1365-2265.2005.02190.x. PMID: 15670192
  4. Gatta-Cherifi, B, et al. Adrenal involvement in MEN1. Analysis of 715 cases from the Groupe d'etude des Tumeurs Endocrines database. Eur. J. Endocrinol. 2012; 166(2):269-79. doi: 10.1530/EJE-11-0679. PMID: 22084155
  5. Berna, MJ, et al. Serum gastrin in Zollinger-Ellison syndrome: II. Prospective study of gastrin provocative testing in 293 patients from the National Institutes of Health and comparison with 537 cases from the literature. evaluation of diagnostic criteria, proposal of new criteria, and correlations with clinical and tumoral features. Medicine (Baltimore). 2006; 85(6):331-64. doi: 10.1097/MD.0b013e31802b518c. PMID: 17108779
  6. Asgharian, B, et al. Cutaneous tumors in patients with multiple endocrine neoplasm type 1 (MEN1) and gastrinomas: prospective study of frequency and development of criteria with high sensitivity and specificity for MEN1. J. Clin. Endocrinol. Metab. 2004; 89(11):5328-36. doi: 10.1210/jc.2004-0218. PMID: 15531478
  7. Thakker, RV, et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J. Clin. Endocrinol. Metab. 2012; 97(9):2990-3011. doi: 10.1210/jc.2012-1230. http://ncbi.nlm.nih.gov/pubmed/22723327
  8. Giusti, F, et al. Multiple Endocrine Neoplasia Type 1. 2005 Aug 31. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1538/ PMID: 20301710
  9. Thakker, RV, et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J. Clin. Endocrinol. Metab. 2012; 97(9):2990-3011. doi: 10.1210/jc.2012-1230. PMID: 22723327
  10. Falchetti, A, et al. Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors. Genet. Med. 2009; 11(12):825-35. doi: 10.1097/GIM.0b013e3181be5c97. PMID: 19904212

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
MEN1* NM_130799.2

MEN1: Sequencing analysis for exons 2 includes only cds +/- 10 bp.