Skip to main content
SpringerLink
Log in

Endocrine System

  • Chapter
  • First Online:
A Practical Guide to Human Cancer Genetics

Abstract

The incidence of primary epithelial cancer of the thyroid is 0.7 per 100,000 in males and 1.9 per 100,000 in females in the UK. Overall, the annual incidence of thyroid cancer is between 0.9 and 5.2 per 100,000 people, with a ratio of women to men of 2–3:1. Thyroid cancer is the most rapidly rising incident cancer in women and the second most rapidly rising incident cancer in men in the USA. Whether the papillary or follicular histology is favored is dependent on the amount of dietary iodine in a particular region. Papillary thyroid carcinoma (PTC) accounts for more than 50 % of cases in the UK and USA, the next most common type of thyroid cancer being follicular thyroid carcinoma (FTC). Less frequent types are medullary thyroid carcinomas (MTC), anaplastic (undifferentiated) carcinomas, Hürthle cell carcinomas, and squamous cell carcinomas. Other non-epithelial malignancies that may be observed in the thyroid include lymphomas and sarcomas, but these are rare.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 99.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 179.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Aldred MA, Morrison CD, Gimm O, et al. Peroxisome proliferator-activated receptor gamma is frequently downregulated in a diversity of sporadic non-medullary thyroid carcinomas. Oncogene. 2003;22:3412–6.

    Article  PubMed  CAS  Google Scholar 

  • Astuti D, Douglas F, Lennard TWJ, et al. Germline SDHD mutation in familial phaeochromocytoma. Lancet. 2001a;357:1181–2.

    Article  PubMed  CAS  Google Scholar 

  • Astuti D, Latif F, Dallol A, et al. Mutations in the mitochondrial complex II subunit SDHB cause susceptibility to familial paraganglioma and pheochromocytoma. Am J Hum Genet. 2001b;69:49–54.

    Article  PubMed  CAS  Google Scholar 

  • Bayley JP, Kunst HP, Cascon A, Sampietro ML, Gaal J, Korperschoek E, Hinojar-Guitierrez A, Timmers HJ, Hoefsloot LH, Hermsen MA, Suarez C, Hussain AK, Vriends AH, Hes FJ, Jansen JC, Tops CM, Corssmit EP, de Knijff P, Lenders JW, Cremers CW, Devilee P, Dinjens WN, de Krijger RR, Robledo M. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol. 2010;11:366–72.

    Article  PubMed  CAS  Google Scholar 

  • Baysal BE, Ferrell RE, Willett-Brozick JE, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science. 2000;287:848–51.

    Article  PubMed  CAS  Google Scholar 

  • Bender BU, Gutsche M, Gläsker S, et al. Differential genetic alterations in sporadic and von Hippel–Lindau syndrome-associated pheochromocytomas. J Clin Endocrinol Metab. 2000;85:4568–74.

    Article  PubMed  CAS  Google Scholar 

  • Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab. 2006;91:827–36.

    Article  PubMed  CAS  Google Scholar 

  • Bennett KL, Mester J, Eng C. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. JAMA. 2010;304:2724–31.

    Article  PubMed  CAS  Google Scholar 

  • Berezin M, Karasik A. Familial prolactinoma. Clin Endocrinol (Oxf). 1995;42:483–6.

    Article  CAS  Google Scholar 

  • Bergman L, Teh B, Cardinal J, et al. Identification of MEN1 gene mutations in families with MEN 1 and related disorders. Br J Cancer. 2000;83:1009–14.

    Article  PubMed  CAS  Google Scholar 

  • Blaugrund JE, Johns MM, Eby YJ, et al. RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. Hum Mol Genet. 1994;3:1895–7.

    Article  PubMed  CAS  Google Scholar 

  • Boedeker CC, Erlic Z, Richard S, Kontny U, Gimenez-Roqueplo AP, Cascon A, Robledo M, deCampos JM, vanNedervenn FH, deKrijger RR, Burnichon N, Gaal J, Walter MA, Resch K, Wiech T, Weber J, Ruckauer K, Plouin PF, Darrouzet V, Giraud S, Eng C, Neumann HPH. Head and neck paragangliomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. J Clin Endocrinol Metab. 2009;94:1938–44.

    Article  PubMed  CAS  Google Scholar 

  • Bongarzone I, Monzini N, Borrello MG, et al. Molecular characterization of a thyroid tumor-specific transforming sequence formed by the fusion of ret tyrosine kinase and the regulatory subunit RI of cyclic AMP-dependent protein kinase A. Mol Cell Biol. 1993;13:358–66.

    PubMed  CAS  Google Scholar 

  • Burgess JR, Shepherd JJ, Parameswaran V, Hoffman L, Greenaway TM. Spectrum of pituitary disease in multiple endocrine neoplasia type 1 (MEN 1): clinical, biochemical, and radiological features of pituitary disease in a large MEN 1 kindred. J Clin Endocrinol Metab. 1996;81(7):2642–6.

    Article  PubMed  CAS  Google Scholar 

  • Burnichon N, Vescovo L, Amar L, Libe R, de Reynies A, Venisse A, Jouanno E, Laurendeau I, Parfait B, Bertherat J, Plouin PF, Jeunemaitre X, Favier J, Gimenez-Roqueplo AP. Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum Mol Genet. 2011;20(20):3974–85.

    Article  PubMed  CAS  Google Scholar 

  • Carpten JD, Robbins CM, Villablanca A, et al. HRPT 2, encoding parafibromin is mutated in hyperparathyroidism – jaw tumor syndrome. Nat Genet. 2002;32:676–80.

    Article  PubMed  CAS  Google Scholar 

  • Cetta F, Montalto G, Gori M, Curia MC, Cama A, Olshwang S. Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study. J Clin Endocrinol Metab. 2000;85:286–92.

    Article  PubMed  CAS  Google Scholar 

  • Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F, Landa I, Leandro-Garcia LJ, Leton R, Honrado E, Ramos-Medina R, Caronia D, Pita G, Gomez-Grana A, de Cubas AA, Ingalda-Perez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernandez-Lavado R, Diaz JA, Gomez-Morales M, Gonzalez-Neira A, Roncador G, Rodriguez-Antona C, Benitez J, Mannelli M, Opocher G, Robledo M, Cascon A. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet. 2011;43:663–7.

    Article  PubMed  CAS  Google Scholar 

  • Eng C. Familial papillary thyroid cancer – many syndromes, too many genes? J Clin Endocrinol Metab. 2000a;85:1755–7.

    Article  PubMed  CAS  Google Scholar 

  • Eng C. Multiple endocrine neoplasia type 2 and the practice of molecular medicine. Rev Endocrinol Metab Dis. 2000b;1:283–90.

    Article  CAS  Google Scholar 

  • Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet. 2000c;37:828–30.

    Article  PubMed  CAS  Google Scholar 

  • Eng C, Kiuru M, Fernandez MJ, Aaltonen LA. A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer 2003; 3:193–202.

    Article  PubMed  CAS  Google Scholar 

  • Eng C, Smith DP, Mulligan LM, et al. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors. Hum Mol Genet. 1994;3:237–41.

    Article  PubMed  CAS  Google Scholar 

  • Eng C, Mulligan LM, Smith DP, et al. Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma. Clin Endocrinol. 1995a;43:123–7.

    Article  CAS  Google Scholar 

  • Eng C, Mulligan LM, Smith DP, et al. Mutation in the RET proto-oncogene in sporadic medullary thyroid carcinoma. Genes Chromosomes Cancer. 1995b;12:209–12.

    Article  PubMed  CAS  Google Scholar 

  • Eng C, Clayton D, Schuffenecker I, et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium analysis. J Am Med Assoc. 1996a;276:1575–9.

    Article  CAS  Google Scholar 

  • Eng C, Mulligan LM, Healey CS, et al. Heterogeneous mutation of the RET proto-oncogene in subpopulations of medullary thyroid carcinoma. Cancer Res. 1996b;56:2167–70.

    PubMed  CAS  Google Scholar 

  • Eng C, Schneider K, Fraumeni JF, Li FP. Third international workshop on collaborative interdisciplinary studies of p53 and other predisposing genes in Li–Fraumeni syndrome. Cancer Epidemiol Biomark Prev. 1997;6:379–83.

    CAS  Google Scholar 

  • Eng C, Thomas GA, Neuberg DS, et al. Mutation of the RET proto-oncogene is correlated with RET immunostaining in subpopulations of cells in sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab. 1998;83:4310–3.

    Article  PubMed  CAS  Google Scholar 

  • Erlic Z, Rybicki LA, Peczkowska M, Hohenberg W, Kann PH, Dralle H, Mussig K, Muresan M, Schaffler A, Reisch N, Schott M, Fassnacht M, Opocher G, Klose S, Fottner C, Forrer F, Plockinger U, Peterssen S, Januszwicz A, Waltz M, Eng C, Neumann HPH. Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clin Cancer Res. 2009;15:6378–85.

    Article  PubMed  CAS  Google Scholar 

  • Friedman E, deMarco L, Gejman PV, et al. Allelic loss from chromosome 11 in parathyroid tumors. Cancer Res. 1992;52:6804–9.

    PubMed  CAS  Google Scholar 

  • Gadelha MR, Une KN, Rohde K, Vaisman M, Kineman RD, Frohman LA. Isolated familial somatotropinomas: establishment of linkage to chromosome 11q13.1–11q13.3 and evidence for a potential second locus at chromosome 2p16–12. J Clin Endocrinol Metab. 2000;85(2):707–14.

    Article  PubMed  CAS  Google Scholar 

  • Gimm O, Armanios M, Dziema H, Neumann HPH, Eng C. Somatic and occult germline mutations in SDHD, a mitochondrial complex II gene, in non-familial pheochromocytomas. Cancer Res. 2000;60:6822–5.

    PubMed  CAS  Google Scholar 

  • Grufferman S, Gillman MW, Pasternak LR, Peterson CL, Young WG. Familial carotid body tumors: case report and epidemiologic review. Cancer. 1980;46:2116–22.

    Article  PubMed  CAS  Google Scholar 

  • Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, Kunst H, Devilee P, Cremers CW, Schiffman JD, Bentz BG, Gygi SP, Winge DR, Kremer H, Rutter J. SDH5, a gene required for flavination of succinate dehydrogease, is mutated in paraganglioma. Science. 2009;325:1139–42.

    Article  PubMed  CAS  Google Scholar 

  • Harach HR, Williams GT, Williams ED. Familial adenomatous polyposis associated thyroid carcinoma: a distinct type of follicular cell neoplasm. Histopathology. 1994;25:549–61.

    Article  PubMed  CAS  Google Scholar 

  • Harach HR, Soubeyran I, Brown A, Bonneau D, Longy M. Thyroid pathologic findings in patients with Cowden disease. Ann Diagn Pathol. 1999;3(6):331–40.

    Article  PubMed  CAS  Google Scholar 

  • Heutink P, van der Mey AGL, Sandkuijl LA, et al. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to 11q23-qter. Hum Mol Genet. 1992;1:7–10.

    Article  PubMed  CAS  Google Scholar 

  • Hofstra RMW, Landsvater RM, Ceccherini I, et al. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature. 1994;367:375–6.

    Article  PubMed  CAS  Google Scholar 

  • Horvath A, Boikos S, Glatzakis C, Robinson-White A, Groussin L, Griffin KL, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libe R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A4) in individuals with adrenocortical hyperplasia. Nat Genet. 2006;38:794–800.

    Article  PubMed  CAS  Google Scholar 

  • Howell VM, Haven CJ, Kahnoski K, et al. HRPT2 mutations are associated with malignancy in sporadic parathyroid tumors. J Med Genet. 2003;40:657–63.

    Article  PubMed  CAS  Google Scholar 

  • Huang SC, Koch CA, Vortmeyer AO, et al. Duplication of the mutant REt allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytoma. Cancer Res. 2000;60:6223–6.

    Google Scholar 

  • Ito Y, Miyauchi A, Ishikawa H, Hirokawa M, Kudo T, Tomoda C, Miya A. Our experience of treatment of cribriform morular variant of papillary thyroid carcinoma; difference in clinicopathological features of FAP-associated and sporadic patients. Endocr J. 2011;58(8):685–9.

    Article  PubMed  Google Scholar 

  • Jadziewski K, Liyanarachchi S, Panchucki J, Ringel MD, Jarzab B, de la Chapelle A. Polymorphic mature micro-RNAs from passenger strand of miR-146a contribute to thyroid cancer. Proc Natl Acad Sci USA. 2009;106:1502–5.

    Article  Google Scholar 

  • Jarrar AM, Milas M, Mitchell J, Laguardia L, O’Malley M, Berber E, Siperstein A, Burke CA, Church JM. Screening for thyroid cancer in patients with familial adenomatous polyposis. Ann Surg. 2011;253:515–21.

    Article  PubMed  Google Scholar 

  • Kassem M, Kruse TA, Wong FK, Larsson C, Teh BT. Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish kindred. J Clin Endocrinol Metab. 2000;85:165–7.

    Article  PubMed  CAS  Google Scholar 

  • Kimura ET, Nikiforova MN, Zhu Z, Knauf JA, Nikiforov YE, Fagin JA. High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Res. 2003;63:1454–7.

    PubMed  CAS  Google Scholar 

  • Kloos RT, Eng C, Evans DB, Francis GL, Gagel R, Gharib H, Moley JF, Pacini F, Ringel MD, Schlumberger M, Wells SA. Medullary thyroid carcinoma: management guidelines of the American Thyroid Association. Thyroid. 2009;19:565–612.

    Article  PubMed  Google Scholar 

  • Koch CA, Huang SC, Moley JF, et al. Allelic imbalance of the mutant and wild-type REt allele in MEN 2A-associated medullary thyroid carcinoma. Oncogene. 2001;20:7809–11.

    Google Scholar 

  • Kroll TG, Sarraf P, Pecciarini L, et al. PAX8-PPARgamma1 fusion oncogene in human thyroid carcinoma. Science. 2000;289:1357–60.

    Article  PubMed  CAS  Google Scholar 

  • Lanzi C, Borrello MG, Bongarzone I, et al. Identification of the product of two oncogenic forms of the ret proto-oncogene in papillary thyroid carcinomas. Oncogene. 1992;7:2189–94.

    PubMed  CAS  Google Scholar 

  • Lyons J, Landis CA, Harsh G, et al. Two G protein oncogenes in human endocrine tumors. Science. 1990;249:655–88.

    Article  PubMed  CAS  Google Scholar 

  • Maher ER, Eng C. The pressure rises: update on the genetics of phaeochromocytoma. Hum Mol Genet. 2002;11:2347–54.

    Article  PubMed  CAS  Google Scholar 

  • Malkin D, Li FP, Strong LC, et al. Germline p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. 1990;250:1233–8.

    Article  PubMed  CAS  Google Scholar 

  • Mariman ECM, van Beersum SEC, Cremers CWRJ, Struycken PM, Ropers HH. Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Hum Genet. 1995;95:56–62.

    Article  PubMed  CAS  Google Scholar 

  • Marsh DJ, Learoyd DL, Andrew SD, et al. Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma. Clin Endocrinol. 1996a;44:249–57.

    Article  CAS  Google Scholar 

  • Marsh DJ, Andrew SD, Eng C, et al. Germline and somatic mutations in an oncogene: RET mutations in inherited medullary thyroid carcinoma. Cancer Res. 1996b;6:1241–3.

    Google Scholar 

  • Marsh DJ, Coulon V, Lunetta KL, et al. Mutation spectrum and genotype– phenotype analyses in Cowden disease and Bannayan–Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet. 1998;7:507–15.

    Article  PubMed  CAS  Google Scholar 

  • Moura MM, Cavaco BM, Pinto AE, Leite V. High prevalence of RAS mutations in RET-negative sporadic medullary thyroid carcinomas. J Clin Endocrinol Metab. 2011;96:E863–8.

    Article  PubMed  CAS  Google Scholar 

  • Mulligan LM, Eng C, Healey CS, et al. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet. 1994;6:70–4.

    Article  PubMed  CAS  Google Scholar 

  • Neumann HPH, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peczkowska M, Szmigielski C, Eng C, The Freiburg-Warsaw-Columbus Pheochromocytoma Study Group. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002;346:1459–66.

    Article  PubMed  CAS  Google Scholar 

  • Neumann HPH, Pawlu C, Peçzkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley T, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C. Distinct clinical features characterize paraganglioma syndromes associated with SDHB and SDHD mutations. JAMA. 2004;292:943–51.

    Article  PubMed  CAS  Google Scholar 

  • Neumann HPH, Erlic Z, Boedeker CC, Rybicki LA, Robledo M, Hermsen M, Schiavi F, Falcioni M, Kwok P, Bauters C, Lampe K, Fischer M, Edelman E, Benn DE, Robinson BG, Wiegand S, Rasp G, Stuck BA, Ridder G, Hoffman MM, Sullivan M, Sevilla MA, Weiss MM, Peczkowska M, Kabaszek A, Pigny P, Ward RL, Learoyd D, Croxson M, Zabolotny D, Yaremchek S, Draf W, Muresan M, Lorenz RR, Knipping S, Strohm M, Dyckhoff G, Mattias C, Reisch N, Preuss SF, Esser D, Walter MA, Kaftan H, Stover T, Fottner C, Gorgulla H, Schipper J, Brase C, Glien A, Kuehnemund M, Koscielny S, Schwerdtfeger DT, Valimaki M, Szyfter W, Finckh U, Zerres K, Cascon A, Opocher G, Ridder G, Januszewicz A, Suarez C, Eng C. Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Cancer Res. 2009;69:3650–6.

    Article  PubMed  CAS  Google Scholar 

  • Neumann HPH, Sullivan M, Winter A, Malinoc A, Hoffmann MM, Boedeker CC, Bertz H, Walz MK, Moeller LC, Schmid KW, Eng C. Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. J Clin Endocrinol Metab. 2011;96:E1279–82.

    Article  PubMed  CAS  Google Scholar 

  • Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet. 2008;83:261–8.

    Article  PubMed  CAS  Google Scholar 

  • Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma. Nat Genet. 2000;26:141–50.

    Article  Google Scholar 

  • Parry DM, Li FP, Strong LC, et al. Carotid body tumors in humans: genetics and epidemiology. J Natl Cancer Inst. 1982;68:573–8.

    PubMed  CAS  Google Scholar 

  • Peczkowska M, Cascon A, Prejbisz A, Kubaszek A, Cwikla JB, Furmanek M, Erlic Z, Eng C, Januszewicz A, Neumann HPH. Metachronous extraadrenal and adrenal pheochromocytomas associated with a germline succinate dehydrogenase subunit C (SDHC) mutation. Nat Clin Pract Endocrinol Metab. 2007;4:111–5.

    Article  Google Scholar 

  • Peczkowska M, Erlic Z, Hoffman M, Furmanek M, Kubaszek A, Prejbisz A, Szutkowski Z, Kawaki A, Chojnowski K, Lewczuk A, Litwin M, Syfter W, Walter M, Sullivan M, Eng C, Januszewicz A, Neumann HPH. Screening SDHD Cys11X as a common mutation associated with paranganglioma syndrome type 1. J Clin Endocrinol Metab. 2008;93:4818–25.

    Article  PubMed  CAS  Google Scholar 

  • Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 1993;75(7):1297–303.

    Article  PubMed  CAS  Google Scholar 

  • Ribeiro RC, Sandrini F, Figueiredo B, et al. An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci USA. 2001;98:9330–5.

    Article  PubMed  CAS  Google Scholar 

  • Rio Frio T, Bahubeshi A, Kanellopoulou C, Hamel N, Niedziela M, Sabbaghian N, Pouchet C, Gilbert L, O'Brien PK, Serfas K, Broderick P, Houlston RS, Lesueur F, Bonora E, Muljo S, Schimke RN, Bouron-Dal Soglio D, Arseneau J, Schultz KA, Priest VH, Harach HR, Livingston DM, Foulkes WD, Tischkowitz M. DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors. JAMA. 2011;305:68–77.

    Article  PubMed  CAS  Google Scholar 

  • Schiavi F, Boedeker CC, Bausch B, Peçzkowska M, Fuentes-Gomez C, Strassburg T, Pawlu C, Buchta M, Saltzman M, Hoffman MM, Berlis A, Brink I, Cybulla M, Muresan M, Walter MM, Forer F, Välimäki M, Kawecki A, Szutkowski Z, Schipper J, Walz MK, Pigny P, Bauters C, Willet-Brozick JE, Baysal BE, Januszewicz A, Eng C, Opocher G, Neumann HPH. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA. 2005;294:2057–63.

    Article  PubMed  CAS  Google Scholar 

  • Schilling T, Burck J, Sinn HP, et al. Prognostic value of codon 918 (ATG->ACG) RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. Int J Cancer. 2001;95:62–6.

    Article  PubMed  CAS  Google Scholar 

  • Schuffenecker I, Ginet N, Goldgar D, et al. Prevalence and parental origin of de novo RET mutations in MEN 2A and FMTC. Am J Hum Genet. 1997;60:233–7.

    PubMed  CAS  Google Scholar 

  • Schuffenecker I, Virally-Monod M, Brohet R, et al. Risk and penetrance of primary hyperparathyroidism in MEN 2A families with codon 634 mutations of the RET proto-oncogene. J Clin Endocrinol Metab. 1998;83:487–91.

    Article  PubMed  CAS  Google Scholar 

  • Shattuck TM, Valimaki S, Obara T, et al. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. New Engl J Med. 2003;349:1722–9.

    Article  PubMed  CAS  Google Scholar 

  • Soares P, Trovisco V, Rocha AS, et al. BRAF mutations and RET/PTC rearrangements are alternative events in the etiopathogenesis of PTC. Oncogene. 2003;22:4578–80.

    Article  PubMed  CAS  Google Scholar 

  • Sozzi G, Bongarzone I, Miozzo M, et al. A t(10;17) translocation creates the RET/ PTC2 chimeric transforming sequence in papillary thyroid carcinoma. Genes Chromosomes Cancer. 1992;9:244–50.

    Article  Google Scholar 

  • Stratakis CA, Sarlis N, Kirschner LS, et al. Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. Ann Int Med. 1999;131:585–91.

    PubMed  CAS  Google Scholar 

  • Stratakis CA, Tichomirowa MA, Boikos S, Azevdo MF, Lodish M, Martari M, Verman S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori-Herishanu L, Horvath A, Tsang KM, Nesterova M, Franklin S, VanBellinghan JF, Bours V, Salvatori R, Beckers A. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clin Genet. 2010;78:457–63.

    Article  PubMed  CAS  Google Scholar 

  • Tamura Y, Ishibashi S, Gotoda T, et al. A Kindred of familial acromegaly without evidence for linkage to MEN 1 locus. Endocr J. 2002;49:425–31.

    Article  PubMed  CAS  Google Scholar 

  • Teh BT, Farnebo F, Kristoffersson U, et al. Autosomal dominant primary hyper-parathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21–q32 and loss of the wild type allele in renal hamartomas. J Clin Endocrinol Metab. 1996;81:4204–11.

    Article  PubMed  CAS  Google Scholar 

  • Tichomirowa MA, Barlier A, Daly AF, Jaffrain-Rea ML, Ronchi CL, Yaneva M, Urban JD, Petrossians P, Elenkova AP, Tabarin A, Desailloud R, Maiter D, Schurmeyer T, Cozzi R, Theodoropoulou M, Sievers C, Benebeu I, LA N, Chabre O, Fajardo-Montanana C, Hana V, Halaby G, Delemer B, Labarta JI, Sonnet E, Ferrandez A, Hagelstein MT, Caron P, Stalla GK, Bours V, Zacharieva S, Spada A, Brue T, Beckers A. High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Eur J Endocrinol. 2011;165(4):509–15.

    Article  PubMed  CAS  Google Scholar 

  • Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, DeMenis E, Makinen MJ, Launonen V, Karhu A, Aaltonen LA. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science. 2006;312:1228–30.

    Article  PubMed  CAS  Google Scholar 

  • Wiedemann H-R. Tumors and hemihypertrophy associated with Wiedemann–Beckwith syndrome. Eur J Pediatr. 1983;141:129.

    Article  Google Scholar 

  • Wohlik N, Cote GJ, Bugalho MMJ, et al. Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab. 1996;81:3740–5.

    Article  Google Scholar 

  • Woodward ER, Eng C, McMahon R, Voutilainen R, Affara NA, Ponder BAJ, Maher ER. Genetic predisposition to pheochromocytoma: analysis of candidate genes GDNF, RET and VHL. Hum Mol Genet. 1997;6:1051–6.

    Article  PubMed  CAS  Google Scholar 

  • Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Perez L, King EE, Toledo RA, Ercolino T, Rappizzi E, Ricketts CJ, Mori L, Giacche M, Mendola A, Taschin E, Boaretto F, Loli P, Iaocobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, Vikkula M, Grossman AB, Gruber SB, Barotini M, Persu A, Castellano M, Toledo SP, Maher ER, Manelli M, Opocher G, Robledo M, Dahia PLM. Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA. 2010;304:2611–9.

    Article  PubMed  CAS  Google Scholar 

  • Zhuang Z, Vortmeyer AO, Pack S, et al. Somatic mutations of the MEN1 tumor suppressor gene in sporadic gastrinomas and insulinomas. Cancer Res. 1997;57:4682–6.

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Cancer Genetics, St Georges Hospital, London, UK

    Shirley V. Hodgson

  2. Program in Cancer Genetics Department of Human Genetics, Medicine and Oncology, McGill University, Montreal, Québec, Canada

    William D. Foulkes

  3. Genomic Medicine Institute Cleveland Clinic, Cleveland, OH, USA

    Charis Eng

  4. Department of Medical Genetics, University of Cambridge, Cambridge, UK

    Eamonn R. Maher

Authors
  1. Shirley V. Hodgson
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. William D. Foulkes
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Charis Eng
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Eamonn R. Maher
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 2014 Springer-Verlag London

About this chapter

Cite this chapter

Hodgson, S.V., Foulkes, W.D., Eng, C., Maher, E.R. (2014). Endocrine System. In: A Practical Guide to Human Cancer Genetics. Springer, London. https://doi.org/10.1007/978-1-4471-2375-0_4

Download citation

  • DOI: https://doi.org/10.1007/978-1-4471-2375-0_4

  • Published:

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-2374-3

  • Online ISBN: 978-1-4471-2375-0

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation