Familial non-medullary thyroid carcinoma (FNMTC): Analysis of fPTC/PRN, NMTC1, MNG1 and TCO susceptibility loci and identification of somatic BRAF and RAS mutations

Endocrine-Related Cancer

Volumn 15, Issue 1, 2008, Pages 207-215

  Cavaco, Branca M ^a,c   Batista, Pedro F ^a   Martins, Carmo ^a   Banito, Ana ^a   Do Rosário, Francisco ^a   Limbert, Edward ^a   Sobrinho, Luís G ^a,b   Leite, Valeriano ^a,b  

^a INSTITUTO PORTUGUÊS DE ONCOLOGIA DE LISBOA FRANCISCO GENTIL   (Portugal)

^b NOVA MEDICAL SCHOOL   (Portugal)

^c INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; RAS PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; FAMILIAL DISEASE; FAMILIAL NON MEDULLARY THYROID CARCINOMA; FEMALE; FOLLICULAR THYROID ADENOMA; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; LINKAGE ANALYSIS; MALE; NODULAR GOITER; PAPILLARY THYROID CARCINOMA; SCHOOL CHILD; SOMATIC MUTATION; THYROID ADENOMA; THYROID CARCINOMA; THYROID MEDULLARY CARCINOMA;

ADENOCARCINOMA, FOLLICULAR; ADENOMA; ADOLESCENT; ADULT; AGED; CARCINOMA, PAPILLARY; CHILD; FEMALE; GENES, RAS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GOITER, NODULAR; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MIDDLE AGED; MUTATION; PROTO-ONCOGENE PROTEINS B-RAF; THYROID NEOPLASMS;

EID: 41349093968     PISSN: 13510088     EISSN: None     Source Type: Journal    
DOI: 10.1677/ERC-07-0214     Document Type: Article

References (34)

1. Alsanea O & Clark OH 2001 Familial thyroid cancer. Current Opinion in Oncology 13 44-51.
2. Bignell GR, Canzian F, Shayeghi M, Stark M, Shugart YY, Biggs P, Mangion J, Hamoudi R, Rosenblatt J, Buu P et al. 1997 Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer. American Journal of Human Genetics 61 1123-1130.
3. Bouras M, Bertholon J, Dutrieux-Berger N, Parvaz P, Paulin C & Revol A 1998 Variability of Ha-ras (codon 12) proto-oncogene mutations in diverse thyroid cancers. European Journal of Endocrinology 139 209-216.
4. Brunaud L, Zarnegar R, Wada N, Magrane G, Wong M, Duh QY, Davis O & Clark OH 2003 Chromosomal aberrations by comparative genomic hybridization in thyroid tumors in patients with familial nonmedullary thyroid cancer. Thyroid 13 621-629.
5. Canzian F, Salovaara R, Hemminki A, Kristo P, Chadwick RB, Aaltonen LA & de la Chapelle A 1996 Semiautomated assessment of loss of heterozygosity and replication error in tumors. Cancer Research 56 3331-3337.
6. Canzian F, Amati P, Harach HR, Kraimps JL, Lesueur F, Barbier J, Levillain P, Romeo G & Bonneau D 1998 A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2. American Journal of Human Genetics 63 1743-1748.
7. Charkes ND 2006 On the prevalence of familial nonmedullary thyroid cancer in multiply affected kindreds. Thyroid 16 181-186.
8. Di Cristofaro J, Marcy M, Vasko V, Sebag F, Fakhry N, Wynford-Thomas D & De Micco C 2006 Molecular genetic study comparing follicular variant versus classic papillary thyroid carcinomas: association of N-ras mutation in codon 61 with follicular variant. Human Pathology 37 824-830.
9. DeLellis RA, Lloyd RV, Heitz PU & Eng C 2004 Pathology and Genetics of Tumours of Endocrine Organs World Health Organization Classification of Tumours. Lyon: IARC Press pp 50-105.
10. Farid NR, Shi Y & Zou M 1994 Molecular basis of thyroid cancer. Endocrine Reviews 15 202-232.
11. Forbes S, Clements J, Dawson E, Bamford S, Webb T, Dogan A, Flanagan A, Teague J, Wooster R, Futreal PA et al. 2006 COSMIC 2005. British Journal of Cancer 94 318-322.
12. Fugazzola L, Puxeddu E, Avenia N, Romei C, Cirello V, Cavaliere A, Faviana P, Mannavola D, Moretti S, Rossi S et al. 2006 Correlation between B-RAFV600E mutation and clinico-pathologic parameters in papillary thyroid carcinoma: data from a multicentric Italian study and review of the literature. Endocrine-Related Cancer 13 455-464.
13. Hou P & Xing M 2006 Absence of germline mutations in genes within the MAP kinase pathway in familial non-medullary thyroid cancer. Cell Cycle 5 2036-2039.
14. Imyanitov EN, Grigoriev MY, Gorodinskaya VM, Kuligina ES, Pozharisski KM, Togo AV & Hanson KP 2001 Partial restoration of degraded DNA from archival paraffin-embedded tissues. BioTechniques 31 1000-1002.
15. Kimura ET, Nikiforova MN, Zhu Z, Knauf JA, Nikiforov YE & Fagin JA 2003 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 Research 63 1454-1457.
16. Lindner TH & Hoffmann K 2005 easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses. Bioinformatics 21 405-407.
17. Malchoff CD & Malchoff DM 1999 Familial nonmedullary thyroid carcinoma. Seminars in Surgical Oncology 16 16-18.
18. Malchoff CD & Malchoff DM 2006 Familial nonmedullary thyroid carcinoma. Cancer Control 13 106-110.
19. Malchoff CD, Sarfarazi M, Tendler B, Forouhar F, Whalen G, Joshi V, Arnold A & Malchoff DM 2000 Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome. Journal of Clinical Endocrinology and Metabolism 85 1758-1764.
20. McKay JD, Lesueur F, Jonard L, Pastore A, Williamson J, Hoffman L, Burgess J, Duffield A, Papotti M, Stark M et al. 2001 Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21. American Journal of Human Genetics 69 440-446.
21. Musholt TJ, Musholt PB, Petrich T, Oetting G, Knapp WH & Klempnauer J 2000 Familial papillary thyroid carcinoma: genetics, criteria for diagnosis, clinical features, and surgical treatment. World Journal of Surgery 24 1409-1417.
22. Nikiforova MN, Kimura ET, Gandhi M, Biddinger PW, Knauf JA, Basolo F, Zhu Z, Giannini R, Salvatore G, Fusco A et al. 2003 BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. Journal of Clinical Endocrinology and Metabolism 88 5399-5404.
23. Oliveira C, Westra JL, Arango D, Ollikainen M, Domingo E, Ferreira A, Velho S, Niessen R, Lagerstedt K & Alhopuro P 2004 Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status. Human Molecular Genetics 13 2303-2311.
24. Sarquis MS, Weber F, Shen L, Broelsch CE, Jhiang SM, Zedenius J, Frilling A & Eng C 2006 High frequency of loss of heterozygosity in imprinted, compared with nonimprinted, genomic regions in follicular thyroid carcinomas and atypical adenomas. Journal of Clinical Endocrinology and Metabolism 91 262-269.
25. Schlumberger MJ 1998 Papillary and follicular thyroid carcinoma. New England Journal of Medicine 338 297-306.
26. Sippel RS, Caron NR & Clark OH 2007 An evidence-based approach to familial nonmedullary thyroid cancer: screening, clinical management, and follow-up. World Journal of Surgery 31 924-933.
27. Stankov K, Pastore A, Toschi L, McKay J, Lesueur F, Kraimps JL, Bonneau D, Gibelin H, Levillain P, Volante M et al. 2004 Allelic loss on chromosomes 2q21 and 19p 13.2 in oxyphilic thyroid tumors. International Journal of Cancer 111 463-467.
28. Sturgeon C & Clark OH 2005 Familial nonmedullary thyroid cancer. Thyroid 15 588-593.
29. Trovato M, Ulivieri A, Dominici R, Ruggeri RM, Vitarelli E, Benvenga S, Barresi G, Trimarchi F, Brunetti E, Vecchione A et al. 2004 Clinico-pathological significance of cell-type-specific loss of heterozygosity on chromosome 7q21: analysis of 318 microdissected thyroid lesions. Endocrine-Related Cancer 11 365-376.
30. Uchino S, Noguchi S, Kawamoto H, Yamashita H, Watanabe S, Yamashita H & Shuto S 2002 Familial nonmedullary thyroid carcinoma characterized by multifocality and a high recurrence rate in a large study population. World Journal of Surgery 26 897-902.
31. Vasko V, Ferrand M, Di Cristofaro J, Carayon P, Henry JF & de Micco C 2003 Specific pattern of RAS oncogene mutations in follicular thyroid tumors. Journal of Clinical Endocrinology and Metabolism 88 2745-2752.
32. Ward LS, Brenta G, Medvedovic M & Fagin JA 1998 Studies of allelic loss in thyroid tumors reveal major differences in chromosomal instability between papillary and follicular carcinomas. Journal of Clinical Endocrinology and Metabolism 83 525-530.
33. Xing M 2005 The T1799A BRAF mutation is not a germline mutation in familial nonmedullary thyroid cancer. Clinical Endocrinology 63 263-266.
34. Zhu Z, Gandhi M, Nikiforova MN, Fischer AH & Nikiforov YE 2003 Molecular profile and clinical-pathologic features of the follicular variant of papillary thyroid carcinoma. An unusually high prevalence of ras mutations. American Journal of Clinical Pathology 120 71-77.