Genetic Testing for Endocrine Cancer

The comprehensive hereditary cancer panel screens for genetic variants most strongly associated with endocrine cancer risk, giving you and your family the knowledge to take proactive steps toward better health.

Why Genetic Testing Matters for Endocrine Cancer

The endocrine system relies on glands throughout the body, including the thyroid, parathyroid, adrenal glands, and pancreas, to regulate vital hormones. While many endocrine tumors occur randomly, some are passed down through families. When an inherited gene change is responsible, tumors often show up earlier in life, appear in more than one gland, or affect both sides of the body.

A hereditary cancer test designed to assess the risk of endocrine cancer helps spot the gene changes most strongly linked to these conditions. By learning your risk early, you and your doctor can put a personalized monitoring plan in place long before symptoms ever appear, optimizing your chance of better health outcomes.

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Understand Your Hereditary Risk 

About 5 to 10% of thyroid cancer cases – the most common type of endocrine cancer – are linked to an inherited gene change.¹ That number climbs even higher for medullary thyroid cancer, as well as for people with tumors in multiple endocrine glands.¹

Hereditary endocrine cancer often behaves differently than cases that develop later in life without a family connection. It tends to show up at a younger age, affect multiple glands, or appear on both sides of the body at once – such as both adrenal glands or all four parathyroid glands.² Taking a genetic test for endocrine cancer can highlight these inherited risks long before a tumor ever develops, allowing you and your doctor to start imaging and blood work earlier and monitor your health more closely when needed.

The Main Hereditary Endocrine Cancer Syndromes

Most hereditary endocrine cancers stem from a handful of well-studied syndromes. Each can be identified through genetic testing, helping you and your doctor create a personalized monitoring plan.

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Multiple Endocrine Neoplasia Type 1 (MEN1)

Caused by an inherited change in the MEN1 gene, nearly everyone with MEN1 develops a parathyroid gland tumor at some point. Additionally, about 40% will develop a pituitary tumor, and a similar share will develop a pancreatic neuroendocrine tumor.³ These tumors can be either benign or cancerous.

Multiple Endocrine Neoplasia Type 2 (MEN2)

Caused by a change in the RET gene, MEN2 leads to medullary thyroid cancer in almost everyone affected. About half of people with the MEN2A subtype also develop pheochromocytoma, a type of adrenal gland tumor.⁴ Because the risk of thyroid cancer is so high and predictable, early genetic testing allows families to take preventive action.

Hereditary Paraganglioma Pheochromocytoma Syndrome

Caused by changes in genes like MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127, this syndrome increases the risk of tumors growing from nerve tissue near the adrenal glands and along the spine.⁵ For example, individuals with an SDHB gene change face a 24% to 58% chance of developing one of these tumors by age 60, alongside an elevated risk for kidney cancer.⁵

Von Hippel Lindau (VHL) Disease

Caused by an inherited change in the VHL gene, over a lifetime, people with von Hippel-Lindau disease face a 97% chance of developing VHL-related cancer or health complications. These can include clear cell renal carcinoma, pancreatic neuroendocrine tumors, pheochromocytomas, brain and spinal tumors, tumors of the eye, and adrenal gland cancers.⁶

Who Should Consider Hereditary Endocrine Cancer Testing?

A personal or family history of cancer, especially rare types of cancer, can be the first clue that you face an increased risk due to an inherited mutation. Consider hereditary endocrine cancer testing if you meet any of the following criteria:

1.

A Diagnosis of Medullary Thyroid Cancer

Because the likelihood of an inherited RET gene change is so high with this specific type of thyroid cancer, genetic testing is recommended for anyone diagnosed with medullary thyroid cancer, regardless of family history.⁷
2.

Family History of Endocrine Tumors or Cancer

Having a parent, sibling, or child with a thyroid, parathyroid, adrenal, or pancreatic endocrine tumor increases the likelihood of an inherited gene change.⁸
3.

Personal or Family History of Pheochromocytoma or Paraganglioma

These adrenal and nerve tissue tumors are strongly linked to inherited syndromes and are a common reason doctors refer patients for hereditary testing for endocrine cancer risk.⁵
4.

Primary Hyperparathyroidism at a Young Age or in Multiple Glands

Hyperparathyroidism that develops early in life, affects more than one parathyroid gland, or occurs alongside jaw tumors can be a key indicator of an underlying hereditary condition.⁹

Key Genes Linked to Hereditary Endocrine Cancer

Scientist in lab coat and gloves operating gene testing machines in a laboratory setting.
The comprehensive hereditary cancer test checks the genes that are most strongly tied to inherited endocrine cancer risk, ranging from the most common hereditary cancer syndromes to rarer genetic causes.
Full gene list available here.
Gene
Disease
MEN1
The gene responsible for Multiple Endocrine Neoplasia Type 1. Changes in MEN1 raise the chance of developing parathyroid tumors to nearly 100%, alongside a roughly 40% chance of pituitary and pancreatic neuroendocrine tumors.³
RET
The gene responsible for Multiple Endocrine Neoplasia Type 2. Inherited changes in RET lead to medullary thyroid cancer in nearly all carriers and increase the risk of pheochromocytoma to about 50% in the MEN2A subtype.⁴
VHL
While best known for its link to kidney cancer, changes in VHL also significantly raise the likelihood of developing other cancers.⁶
SDHB, SDHC, SDHD
These are some of the genes linked to hereditary paraganglioma-pheochromocytoma syndrome. Specifically, individuals with an SDHB gene change face a 24% to 58% chance of developing one of these tumors by age 60.⁵
PTEN
The gene responsible for Cowden syndrome, which increases the lifetime risk of thyroid cancer to an estimated 3%-38%, alongside higher risks for breast, endometrial, and kidney cancers.¹⁰
APC
Known primarily for its role in familial adenomatous polyposis and colon cancer, changes in APC also raise the risk of papillary thyroid cancer, affecting up to 2% of people with this syndrome.¹¹
DICER1
Inherited changes in DICER1 elevate the risk of developing tumors in the thyroid, ovaries, lungs, and other areas, with an estimated 31.5% chance of tumor development by age 60.¹³

Simple, from Home to Results

No clinic visit required. jscreen was built for accessibility, privacy, and ease, so nothing stands between you and the knowledge you need.
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Order Your Kit

Register online and receive a saliva collection kit shipped directly to your home within a few days.

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Collect Your Sample

Provide a simple saliva sample at home, following the easy step-by-step instructions included in your kit.

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Lab Analysis

Your sample is analyzed at a CLIA-accredited laboratory using advanced sequencing technology across the full gene panel.

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Receive Results

 Receive your results within 3 to 4 weeks. You can choose to schedule a complimentary consultation with a certified genetic counselor to review your findings.

Costs and Insurance Coverage

jscreen was established on a simple but deeply held belief: that everyone deserves access to testing that can protect themselves and their families from devastating genetic diseases. We're committed to working with you to ensure cost is never a barrier.

Insurance Billing

Most commercial insurance plans cover hereditary cancer testing for individuals who meet criteria based on their racial or ethnic background, personal history, or family history. You will receive a personalized cost estimate from our lab partner. Your final cost depends on your family history and specific insurance plan. Our care navigators are here to help you work through the process and connect you with our financial assistance programs when needed.

Self-Pay Option

Prefer not to use insurance? jscreen offers a straightforward, competitive self-pay rate of $249, plus the upfront fee of $49, for a total of $298. This covers lab testing fees, physician review and test ordering, and access to our genetic counselors and care navigators throughout the testing process.

While endocrine cancer can run in families, understanding your personal risk empowers you to stay ahead of it.

By completing a genetic test for endocrine cancer, thousands of individuals have taken a proactive step toward protecting their health.
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References

1. Hereditary thyroid cancer panel. University of Chicago Genetic Services Laboratory. Accessed July 16, 2026. https://dnatesting.uchicago.edu/tests/hereditary-thyroid-cancer-panel
2. Hereditary paraganglioma pheochromocytoma syndrome. Children's Hospital of Philadelphia. Accessed July 16, 2026. https://www.chop.edu/conditions-diseases/hereditary-paraganglioma-pheochromocytoma-syndrome
3. Progress report on multiple endocrine neoplasia type 1. Fam Cancer. Published online January 2025. Accessed July 16, 2026. https://pmc.ncbi.nlm.nih.gov/articles/PMC11742904/
4. A new MEN2 syndrome with clinical features of both MEN2A and MEN2B associated with a new RET germline deletion. Published 2020. Accessed July 16, 2026. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7411486/
5. Hereditary paraganglioma-pheochromocytoma syndromes. In: GeneReviews. NCBI Bookshelf; updated September 2023. Accessed July 16, 2026. https://www.ncbi.nlm.nih.gov/books/NBK1548/
6. Experimental and Therapeutic Medicine. Spandidos Publications. October 2025. Accessed July 16, 2026. https://www.spandidos-publications.com/10.3892/etm.2025.12940
7. Multiple endocrine neoplasia type 2 (MEN2) (PDQ): health professional version. National Cancer Institute. Updated February 2025. Accessed July 16, 2026. https://www.cancer.gov/publications/pdq/information-summaries/genetics/men2-hp-pdq
8. Cancer genetics risk assessment and counseling (PDQ): health professional version. National Cancer Institute. Updated February 2026. Accessed July 16, 2026. https://www.cancer.gov/publications/pdq/information-summaries/genetics/risk-assessment-hp-pdq
9. A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome. Front Endocrinol. Published January 2024. Accessed July 16, 2026. https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1330185/full
10. Cowden syndrome. American Cancer Society. Accessed July 16, 2026. https://www.cancer.org/cancer/risk-prevention/genetics/family-cancer-syndromes/cowden-syndrome.html
11. Familial adenomatous polyposis (FAP): symptoms, diagnosis, risks. Cleveland Clinic. Updated December 2025. Accessed July 16, 2026. https://my.clevelandclinic.org/health/diseases/16993-familial-adenomatous-polyposis-fap
12. Hyperparathyroidism jaw tumor syndrome. MedlinePlus Genetics. Accessed July 16, 2026. https://medlineplus.gov/genetics/condition/hyperparathyroidism-jaw-tumor-syndrome/
13. DICER1 syndrome and cancer predisposition: from a rare pediatric tumor to lifetime risk. Published 2021. Accessed July 16, 2026. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7859642/