Adapted from Brock et al., 2020 Endocrine Related Cancer: Challenges and opportunities in genetic counseling for hereditary endocrine neoplasia syndromes.

Despite the ever-increasing scientific literature in genetics/genomics and in the sub-specialty of hereditary endocrine neoplasia syndromes, the publication of comprehensive and consolidated genetic counseling resources for endocrine cancer predisposition has lagged behind other hereditary cancer indications. The varied resources are spread across different journals, consortia, and professional societies (table below). In addition to the challenges of finding appropriate resources, there is also heterogeneity among recommendations put forth for genetic evaluation and/or testing in these conditions. Genetic evaluation and testing guidelines also provide varying levels of detail regarding referral criteria. For example, many publications do not specify whether age at presentation plays into the genetic evaluation referral criteria, or provide guidance regarding age at which genetic evaluation should be considered.


Hereditary Endocrine Tumor syndromesNational Comprehensive Cancer Network1 American College of Medical Genetics and Genomics/ National Society of Genetic Counselors2 Endocrine Society3 American Thyroid Association4 Syndrome-Specific Sources5 Clinical Cancer Research Pediatric Oncology Series 6 No guidelines exist currently
Carney Complex ✔️
Familial Isolated Pituitary Adenoma ✔️
Hereditary PCC-PGL ✔️ ✔️ ✔️ ✔️
Hyperparathyroidism – Jaw Tumor syndrome ✔️
Multiple Endocrine Neoplasia type 1 ✔️ ✔️ ✔️ ✔️
Multiple Endocrine Neoplasia type 2 ✔️ ✔️ ✔️
Multiple Endocrine Neoplasia type 4 ✔️
Von Hippel Lindau ✔️ ✔️ ✔️
Cowden syndrome ✔️ ✔️ ✔️
DICER1 syndrome ✔️
Familial Adenomatous Polyposis ✔️ ✔️ ✔️
Li Fraumeni syndrome ✔️ ✔️ ✔️
MUTYH-Associated Polyposis ✔️ ✔️* ✔️
Neurofibromatosis type 1 ✔️
Tuberous Sclerosis Complex ✔️* ✔️

Entries with * denote genetic evaluation and/or genetic testing guidelines that do not include endocrine tumors as an indication

1Neuroendocrine and Adrenal Tumors (Version 1.2019), Genetic/Familial High-Risk Assessment: Colorectal (Version 1.2018), Genetic/Familial High-Risk Assessment: Breast and Ovarian (Version 3.2019)

2Hampel et al., 2015 (PMID: 25394175)

3Thakker et al., 2012 (PMID: 22723327), Lenders et al., 2014 (PMID: 24893135)

4Wells et al., 2015 (PMID: 25810047), Haugen et al., 2016 (PMID 26462967)

5International Tuberous Sclerosis Complex Consensus Conference, 2013 (PMID: 24053983), VHL Alliance, 2019 et al., 2017 (PMID: 28674121) , Rednam et al., 2017 (PMID: 28620007), Achatz et al., 2017 (PMID: 28674119), Evans et al., 2017 (PMID: 28620004), Schultz et al., 2017 (PMID: 28620008)