Definition

Multiple endocrine neoplasia (MEN) is a group of syndromes characterized by tumor development in more than one endocrine gland, resulting from germline variants in different genes. MEN type 1 results from inactivating variants in the MEN1 gene and presents with parathyroid, pancreatic, and pituitary tumors; MEN type 2 results from activating variants in the RET proto-oncogene and is characterized by medullary thyroid carcinoma and pheochromocytoma.

Gene/region examined

MEN1 - Exon 2, MEN1 - Exon 3, MEN1 - Exon 4, MEN1 - Exon 5, MEN1 - Exon 6, MEN1 - Exon 7, MEN1 - Exon 8, MEN1 - Exon 9, MEN1 - Exon 10

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, autosomal dominant (for both types).

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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