Genetic aspects of familial thyroid cancer

Oncologist

Volumn 14, Issue 6, 2009, Pages 571-577

  Morrison, Patrick J ^a,c   Atkinson, A Brew ^b  

^a BELFAST CITY HOSPITAL   (United Kingdom)

^b ROYAL VICTORIA HOSPITAL   (United Kingdom)

^c ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

Author keywords

Familial; Medullary; RET; Thyroid cancer

Indexed keywords

CANCER SCREENING; CLINICAL FEATURE; FAMILIAL CANCER; GENETIC PREDISPOSITION; HUMAN; NEUROFIBROMATOSIS; POINT MUTATION; PRIORITY JOURNAL; PROTO ONCOGENE; REVIEW; SIPPLE SYNDROME; THYROID CANCER; THYROID FOLLICULAR CARCINOMA; THYROID PAPILLARY CARCINOMA;

CARCINOMA, MEDULLARY; CARCINOMA, PAPILLARY; HUMANS; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS;

EID: 68049113585     PISSN: 10837159     EISSN: 1549490X     Source Type: Journal    
DOI: 10.1634/theoncologist.2009-0046     Document Type: Review

References (43)

1. Chandrasekharappa SC, Guru SC, Manickam P et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 1997;276:404-407.
2. Cebrían A, Herrera-Pombo JL, Díez JJ et al. Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1. Eur J Hum Genet 1999;7:585-589.
3. Toliat MR, Berger W, Ropers HH et al. Mutations in the MEN 1 gene in sporadic neuroendocrine tumours of gastroenteropancreatic system. Lancet 1997;350:1223.
4. Bassett JHD, Forbes SA, Pannett AAJ et al. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet 1998;62:232-244.
5. Hadden DR, O'Reilly F, Kennedy L et al. Multiple endocrine neoplasia type 2A: A Northern Ireland and Australian family. Henry Ford Hosp Med J 1987;35:107-109.
6. Morrison PJ, Hadden DR, Russell CJ et al. MEN 2A: Update on the Northern Ireland and Australian family. Henry Ford Hosp Med J 1989;37:127-128.
7. Sipple JH. The association of pheochromocytoma with carcinoma of the thyroid gland. Am J Med 1961;31:163-166.
8. Gimm O, Greco A, Hoang-Vu C et al. Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma. J Clin Endocrinol Metab 1999;84:2784-2787.
9. Wagenmann A. Multiple neurome des auges und der Zunge. Ber Dtsch Opthalmol Ges 1922;43:282-285.
10. Morrison PJ, Nevin NC. Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). J Med Genet 1996; 33:779-782.
11. Bard LA. Genetic counseling of families with Marfan syndrome and other disorders showing a Marfanoid body habitus. Ophthalmology 1979;86: 1764-1793.
12. Saltzman CL, Herzenberg JE, Phillips W Aet al. Thick lips, bumpy tongue, and slipped capital femoral epiphysis - a deadly combination. J Pediatr Orthop 1988;8:219-222.
13. Gorlin RJ, Vickers RA. Multiple mucosal neuromas, pheochromocytoma, medullary carcinoma of the thyroid and Marfanoid body build with muscle wasting: Reexamination of a syndrome of neural crest migration. Birth Defects Orig Artic Ser 1971;7:69-72.
14. Williams ED, Pollock DJ. Multiple mucosal neuromata with endocrine tumours: A syndrome allied to von Recklinghausen's disease. J Pathol Bacteriol 1966;91:71-80.
15. Morrison PJ, Nevin NC, Hughes AE et al. Presymptomatic screening for MEN-2A. Lancet 1991;337:299.
16. Romeo G, Ronchetto P, Luo Y et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 1994;367:377-378.
17. Dabir T, Hunter SJ, Russell CFJ et al. The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma - only phenotype with incomplete penetrance: Implications for screening and management of carrier status. Fam Cancer 2006;5:201-204.
18. Norum RA, Lafreniere RG, O'Neal LW et al. Linkage of the multiple endocrine neoplasia type 2B gene (MEN2B) to chromosome 10 markers linked to MEN2A. Genomics 1990;8:313-317.
19. Mulligan LM, Kwok JBJ, Healey CS et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993;363: 458-460.
20. Donis-Keller H, Dou S, Chi D et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 1993;2:851-856.
21. 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 tumours. Hum Mol Genet 1994;3:237-241.
22. Eng C, Clayton D, Schuffnecker 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. JAMA 1996;276:1575-1579.
23. Eng C. RET proto-oncogene in the development of human cancer. J Clin Oncol 1999;17:380-393.
24. Gimm O, Marsh DJ, Andrew SD et al. Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J Clin Endocrinol Metab 1997;82:3902-3904.
25. Sippel R, Kunnimalaiyaan M, Chen H. Current management of medullary thyroid cancer. The Oncologist 2008;13:539-547.
26. Lips CJM, Landsvater RM, Höppener JWM et al. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med 1994;331:828-835.
27. Skinner MA, Moley JA, Dilley WG et al. Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N Engl J Med 2005;353:1105-1113.
28. Wells SA Jr, Chi DD, Toshima K et al. Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Ann Surg 1994;220:237-250.
29. Morrison PJ, Hadden DR, Hughes AE et al. Gene probe analysis in an informative family with multiple endocrine neoplasia syndrome type 2A (MEN 2A). Improvement in carrier risk estimation. Q J Med 1991;80:597-603.
30. McNally D, Campbell WJ, Sloan JM et al. Thyroidectomy for medullary carcinoma in MEN 2A: Positive genetic screening as the sole indicator for surgery. Ulster Med J 1997;66:134-135.
31. Learoyd DL, Robinson BG. Routine screening for germline RET mutations is recommended for all patients with medullary thyroid cancer. Nat Clin Pract Endocrinol Metab 2009;5:6-7.
32. Decker RA, Peacock ML, Borst MJ et al. Progress in genetic screening of multiple endocrine neoplasia type 2A: Is calcitonin testing obsolete? Surgery 1995;118:257-264.
33. Telenius-Berg M, Berg B, Hambeger B et al. Screening for early asymptomatic pheochromocytoma in MEN-2. Henry Ford Hosp Med J 1987;35: 110-114.
34. Adler JT, Meyer-Rochow GY, Chen H et al. Pheochromocytoma: Current approaches and future directions. The Oncologist 2008;13:779-793.
35. Beatty OL, Russell CFJ, Kennedy L et al. Phaeochromocytoma in Northern Ireland: A 21 year review. Eur J Surg 1996;162:695-702.
36. Canzian F, Amati P, Harach HR et al. A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2. Am J Hum Genet 1998;63:1743-1748.
37. Lacour J, Vignalou J, Perez R et al. [Papillary epithelioma of the thyroid gland. Apropos of 2 familial cases]. Nouv Presse Med 1973;2:2249-2252. In French.
38. Lote K, Andersen K, Nordal E et al. Familial occurrence of papillary thyroid carcinoma. Cancer 1980;46:1291-1297.
39. Lupoli G, Vitale G, Caraglia M et al. Familial papillary thyroid microcarcinoma: A new clinical entity. Lancet 1999;353:637-639.
40. Tong Q, Xing S, Jhiang SM. Leucine zipper-mediated dimerization is essential for the PTC1 oncogenic activity. J Biol Chem 1997;272:9043-9047.
41. Ni Y, Zbuk KM, Sadler T et al. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet 2008;83:261-268.
42. Bignell GR, Canzian F, Shayeghi M et al. Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer. Am J Hum Genet 1997;61: 1123-1130.
43. Lloyd KM, Denis M. Cowden's disease: A possible new symptom complex with multiple system involvement. Ann Intern Med 1963;58:136-142.