The Human Genome Project: big science transforms biology and medicine.

Genome Med. 2013; 5: 79

Key principles and clinical applications of “next-generation” DNA sequencing.

Cancer Prev Res Phila Pa. 2012; 5: 887-900

Pheochromocytoma and Paraganglioma: Genetics, Diagnosis, and Treatment.

Hematol Oncol Clin North Am. 2016; 30: 135-150Alrezk R. Suarez A. Tena I. et al.

Update of Pheochromocytoma Syndromes: Genetics, Biochemical Evaluation, and Imaging.

Front Endocrinol. 2018; 9: 515Patel D. Phay J.E. Yen T.W.F. et al.

Update on Pheochromocytoma and Paraganglioma from the SSO Endocrine/Head and Neck Disease-Site Work Group. Part 1 of 2: Advances in Pathogenesis and Diagnosis of Pheochromocytoma and Paraganglioma.

Ann Surg Oncol. 2020; 27: 1329-1337Li S.R. Nicholson K.J. Mccoy K.L. et al.

Clinical and Biochemical Features of Pheochromocytoma Characteristic of Von Hippel-Lindau Syndrome.

World J Surg. 2020; 44: 570-577Gruber L.M. Erickson D. Babovic-Vuksanovic D. et al.

Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1.

Clin Endocrinol (Oxf). 2017; 86: 141-149

Pheochromocytoma and paraganglioma syndromes: genetics and management update.

Curr Oncol Tor Ont. 2014; 21: e8-e17Settas N. Faucz F.R. Stratakis C.A.

Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome.

Mol Cell Endocrinol. 2018; 469: 107-111Plouin P.F. Amar L. Dekkers O.M. et al.

European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma.

Eur J Endocrinol. 2016; 174: G1-G10Lenders J.W.M. Duh Q.Y. Eisenhofer G. et al.

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

J Clin Endocrinol Metab. 2014; 99: 1915-1942Kim J.H. Kim M.J. Kong S.H. et al.

Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.

J Med Genet. 2022; 59: 56-64Nockel P. El Lakis M. Gaitanidis A. et al.

Preoperative genetic testing in pheochromocytomas and paragangliomas influences the surgical approach and the extent of adrenal surgery.

Surgery. 2018; 163: 191-196Patel D. Phay J.E. Yen T.W.F. et al.

Update on Pheochromocytoma and Paraganglioma from the SSO Endocrine and Head and Neck Disease Site Working Group, Part 2 of 2: Perioperative Management and Outcomes of Pheochromocytoma and Paraganglioma.

Ann Surg Oncol. 2020; 27: 1338-1347

The evolution of primary aldosteronism: 1954-1967.

Harvey Lect. 1966; 62: 257-291Funder J.W. Carey R.M. Mantero F. et al.

The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline.

J Clin Endocrinol Metab. 2016; 101: 1889-1916Mulatero P. Tizzani D. Viola A. et al.

Prevalence and characteristics of familial hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino-GENetic forms).

Hypertens Dallas Tex 1979. 2011; 58: 797-803So A. Duffy D.L. Gordon R.D. et al.

Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity.

J Hypertens. 2005; 23: 1477-1484Fernandes-Rosa F.L. Daniil G. Orozco I.J. et al.

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.

Nat Genet. 2018; 50: 355-361Choi M. Scholl U.I. Yue P. et al.

K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.

Science. 2011; 331: 768-772

Melmed S, Polonsky K, Larsen P, Kronenberg H. (2016) Williams Textbook of Endcrinology. 13th edition. Elsevier.

NIH - GTR: Genetic Testing Registry.

(Available at:) (Accessed July 7, 2022)Geller D.S. Zhang J. Wisgerhof M.V. et al.

A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.

J Clin Endocrinol Metab. 2008; 93: 3117-3123Beuschlein F. Fassnacht M. Assié G. et al.

Constitutive activation of PKA catalytic subunit in adrenal Cushing’s syndrome.

N Engl J Med. 2014; 370: 1019-1028

Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.

Mol Cell Endocrinol. 2014; 386: 85-91Young W.F. Carney J.A. Musa B.U. et al.

Familial Cushing’s syndrome due to primary pigmented nodular adrenocortical disease. Reinvestigation 50 years later.

N Engl J Med. 1989; 321: 1659-1664Tirosh A. Valdés N. Stratakis C.A.

Genetics of micronodular adrenal hyperplasia and Carney complex.

Presse Medicale Paris Fr 1983. 2018; 47: e127-e137Kirschner L.S. Carney J.A. Pack S.D. et al.

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

Nat Genet. 2000; 26: 89-92Christopoulos S. Bourdeau I. Lacroix A.

Aberrant expression of hormone receptors in adrenal Cushing’s syndrome.

Pituitary. 2004; 7: 225-235Assié G. Libé R. Espiard S. et al.

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing’s syndrome.

N Engl J Med. 2013; 369: 2105-2114Charchar H.L.S. Fragoso M.C.B.V.

An Overview of the Heterogeneous Causes of Cushing Syndrome Resulting From Primary Macronodular Adrenal Hyperplasia (PMAH).

J Endocr Soc. 2022; 6: bvac041Bouys L. Chiodini I. Arlt W. et al.

Update on primary bilateral macronodular adrenal hyperplasia (PBMAH).

Endocrine. 2021; 71: 595-603

Adrenocortical carcinoma (ACC): When and why should we consider germline testing?.

Presse Medicale Paris Fr 1983. 2018; 47: e119-e125

Association of adrenocortical carcinoma with familial cancer susceptibility syndromes.

Mol Cell Endocrinol. 2012; 351: 66-70Rodriguez-Galindo C. Figueiredo B.C. Zambetti G.P. et al.

Biology, clinical characteristics, and management of adrenocortical tumors in children.

Pediatr Blood Cancer. 2005; 45: 265-273Gatta-Cherifi B. Chabre O. Murat A. et al.

Adrenal involvement in MEN1. Analysis of 715 cases from the Groupe d’etude des Tumeurs Endocrines database.

Eur J Endocrinol. 2012; 166: 269-279Schaefer S. Shipotko M. Meyer S. et al.

Natural course of small adrenal lesions in multiple endocrine neoplasia type 1: an endoscopic ultrasound imaging study.

Eur J Endocrinol. 2008; 158: 699-704Smith T.G. Clark S.K. Katz D.E. et al.

Adrenal masses are associated with familial adenomatous polyposis.

Dis Colon Rectum. 2000; 43: 1739-1742Raymond V.M. Everett J.N. Furtado L.V. et al.

Adrenocortical carcinoma is a lynch syndrome-associated cancer.

J Clin Oncol Off J Am Soc Clin Oncol. 2013; 31: 3012-3018Ruijs M.W.G. Verhoef S. Rookus M.A. et al.

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.

J Med Genet. 2010; 47: 421-428Morioka T. Miyoshi-Imamura T. Blyth B.J. et al.

Ionizing radiation, inflammation, and their interactions in colon carcinogenesis in Mlh1-deficient mice.

Cancer Sci. 2015; 106: 217-226