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.

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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. 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
  2. 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
  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. 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
  5. 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
  6. 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: PMID: 20301710
  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. PMID: 22723327
  8. 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
  9. 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

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, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

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