The Germline Panel – Endocrine Cancer evaluates mutations in genes linked to hereditary endocrine cancers, including multiple endocrine neoplasia (MEN1, MEN2), pheochromocytomas, and paragangliomas.
Hereditary endocrine cancers can arise due to inherited mutations affecting hormone-producing glands, including the thyroid, parathyroid, adrenal, and pituitary glands. Syndromes such as multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2 (MEN2), Cowden syndrome, and hereditary pheochromocytoma-paraganglioma syndromes can significantly increase an individual’s risk of developing endocrine tumors. Identifying these genetic predispositions allows for proactive management and preventative strategies.
Most genes in this panel follow an autosomal dominant inheritance pattern, except SDHAF2, SDHB, SDHC, and SDHD, which may show paternal imprinting effects.
