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Volumn 33, Issue 9, 2010, Pages 603-606

Gene variants associated to malignant thyroid disease in familial adenomatous polyposis: A novel APC germline mutation

Author keywords

FAP; Thyroid cancer

Indexed keywords

APC PROTEIN;

EID: 78751687554     PISSN: 03914097     EISSN: 17208386     Source Type: Journal    
DOI: 10.3275/7289     Document Type: Article
Times cited : (16)

References (23)
  • 2
    • 50049124155 scopus 로고    scopus 로고
    • Extra-intestinal manifestations of familial adenomatous polyposis
    • Groen EJ, Roos A, Muntinghe FL, et al. Extra-intestinal manifestations of familial adenomatous polyposis. Ann Surg Oncol 15: 2439-50.
    • Ann Surg Oncol , vol.15 , pp. 2439-2450
    • Groen, E.J.1    Roos, A.2    Muntinghe, F.L.3
  • 3
    • 33745903402 scopus 로고    scopus 로고
    • MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype
    • Aretz S, Uhlhaas S, Goergens H, et al. MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer 2006, 119: 807-14.
    • (2006) Int J Cancer , vol.119 , pp. 807-814
    • Aretz, S.1    Uhlhaas, S.2    Goergens, H.3
  • 4
    • 34248356377 scopus 로고    scopus 로고
    • Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis
    • Nielsen M, Hes FJ, Nagengast FM et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet 2007, 71: 427-33.
    • (2007) Clin Genet , vol.71 , pp. 427-433
    • Nielsen, M.1    Hes, F.J.2    Nagengast, F.M.3
  • 5
    • 1442283045 scopus 로고    scopus 로고
    • The mutation spectrum of the APC gene in FAP patients from southern Italy: Detection of known and four novel mutations
    • De Rosa M, Scarano Mi, Panariello L, et al. The mutation spectrum of the APC gene in FAP patients from southern Italy: Detection of known and four novel mutations. Hum Mutat 2003, 21: 655-6.
    • (2003) Hum Mutat , vol.21 , pp. 655-656
    • De Rosa, M.1    Mi, S.2    Panariello, L.3
  • 6
    • 33746775351 scopus 로고    scopus 로고
    • Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)
    • Nielsen M, Franken P, Reinards T, et al. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet 2005, 42: e54.
    • (2005) J Med Genet , vol.42
    • Nielsen, M.1    Franken, P.2    Reinards, T.3
  • 7
    • 0000159910 scopus 로고
    • Multiple primary malignancies arising in the rectum, brain and thyroid: Report of a case
    • Crail HW. Multiple primary malignancies arising in the rectum, brain and thyroid: report of a case. US Nav Med Bull 1949, 49: 123-8.
    • (1949) US Nav Med Bull , vol.49 , pp. 123-128
    • Crail, H.W.1
  • 8
    • 0023301321 scopus 로고
    • Familial polyposis coli
    • Bülow S. Familial polyposis coli. Dan Med Bull 1987, 34: 1-15.
    • (1987) Dan Med Bull , vol.34 , pp. 1-15
    • Bülow, S.1
  • 9
    • 0027461243 scopus 로고
    • The impact of familial adenomatosis polyposis on the tumorigenesis and mortality at several organs: Its rational treatment
    • Iwama T, Mishima Y, Utsunomiya J. The impact of familial adenomatosis polyposis on the tumorigenesis and mortality at several organs: its rational treatment. Ann Surg 1993, 217: 101-8.
    • (1993) Ann Surg , vol.217 , pp. 101-108
    • Iwama, T.1    Mishima, Y.2    Utsunomiya, J.3
  • 11
    • 6344277885 scopus 로고    scopus 로고
    • Cribriform-morular variant of papillary thyroid carcinoma: Clue to early detection of familial adenomatous polyposis-associated colon cancer
    • Tomoda C, Miyauchi A, Uruno T, et al. Cribriform-morular variant of papillary thyroid carcinoma: clue to early detection of familial adenomatous polyposis-associated colon cancer. World J Surg 2004, 28: 886-9.
    • (2004) World J Surg , vol.28 , pp. 886-889
    • Tomoda, C.1    Miyauchi, A.2    Uruno, T.3
  • 12
    • 33947174682 scopus 로고    scopus 로고
    • Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations
    • Herraiz M, Barbesino G, Faquin W, et al. Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol 2007, 5: 367-73.
    • (2007) Clin Gastroenterol Hepatol , vol.5 , pp. 367-373
    • Herraiz, M.1    Barbesino, G.2    Faquin, W.3
  • 13
    • 33846074011 scopus 로고    scopus 로고
    • Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature
    • Nieuwenhuis MH, Vasen HFA. Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature. Crit Rev Oncol Hematol 2007, 61: 153-61.
    • (2007) Crit Rev Oncol Hematol , vol.61 , pp. 153-161
    • Nieuwenhuis, M.H.1    Vasen, H.F.A.2
  • 14
    • 0031791538 scopus 로고    scopus 로고
    • Genetic alterations in thyroid carcinoma associated with familial adenomatous polyposis: Clinical implications and suggestions for early detection
    • DOI 10.1007/s002689900550
    • Cetta F, Olschwang S, Petracci M, et al. Genetic alterations in thyroid carcinoma associated with familial adenomatous polyposis: clinical implications and suggestions for early detection. World J Surg 1998, 22: 1231-6. (Pubitemid 28514342)
    • (1998) World Journal of Surgery , vol.22 , Issue.12 , pp. 1231-1236
    • Cetta, F.1    Olschwang, S.2    Petracci, M.3    Montalto, G.4    Baldi, C.5    Zuckermann, M.6    Costantini, R.M.7    Fusco, A.8
  • 15
    • 0141961837 scopus 로고    scopus 로고
    • Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma
    • Truta B, Allen BA, Conrad PG, et al. Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma. Fam Cancer 2003, 2: 95-9.
    • (2003) Fam Cancer , vol.2 , pp. 95-99
    • Truta, B.1    Allen, B.A.2    Conrad, P.G.3
  • 16
    • 42549165647 scopus 로고    scopus 로고
    • Guidelines for the clinical management of familial adenomatous polyposis (FAP)
    • Vasen HF, Möslein G, Alonso A, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008, 57: 704-13.
    • (2008) Gut , vol.57 , pp. 704-713
    • Vasen, H.F.1    Möslein, G.2    Alonso, A.3
  • 17
    • 77149130906 scopus 로고    scopus 로고
    • American Association of Clinical Endocrinologists and Associazione Medici Endocrinologi medical guidelines for clinical practice for the diagnosis and management of thyroid nodules
    • AACE/AME Task Force on Thyroid Nodules.
    • Gharib H, Papini E, Valcavi R, et al; AACE/AME Task Force on Thyroid Nodules. American Association of Clinical Endocrinologists and Associazione Medici Endocrinologi medical guidelines for clinical practice for the diagnosis and management of thyroid nodules. Endocr Pract 2006, 12: 63-102.
    • (2006) Endocr Pract , vol.12 , pp. 63-102
    • Gharib, H.1    Papini, E.2    Valcavi, R.3
  • 18
    • 0025938038 scopus 로고
    • Identification and characterization of the familial adenomatous polyposis coli gene
    • Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991, 66: 589-600.
    • (1991) Cell , vol.66 , pp. 589-600
    • Groden, J.1    Thliveris, A.2    Samowitz, W.3
  • 19
    • 11944252481 scopus 로고    scopus 로고
    • Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients
    • Miyoshi Y, Ando H, Nagase H, et al. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci U S A 1992, 89: 4452-6.
    • Proc Natl Acad Sci U S A 1992 , vol.89 , pp. 4452-4456
    • Miyoshi, Y.1    Ando, H.2    Nagase, H.3
  • 20
    • 0036478899 scopus 로고    scopus 로고
    • Inherited variants of MYH associated with somatic G:C->T:A mutations in colorectal tumors
    • Al-Tassan N, Chmiel NH, Maynard J, et al. Inherited variants of MYH associated with somatic G:C->T:A mutations in colorectal tumors. Nat Genet 2002, 30: 227-32.
    • (2002) Nat Genet , vol.30 , pp. 227-232
    • Al-Tassan, N.1    Chmiel, N.H.2    Maynard, J.3
  • 21
    • 5044227573 scopus 로고    scopus 로고
    • Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
    • Bunyan DJ, Eccles DM, Silliboume J, et al. Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer 2004, 91: 1155-9.
    • (2004) Br J Cancer , vol.91 , pp. 1155-1159
    • Bunyan, D.J.1    Eccles, D.M.2    Silliboume, J.3
  • 22
    • 22844452823 scopus 로고    scopus 로고
    • LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach
    • Fokkema IF, den Dunnen JT, Taschner PE. LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat 2005, 26: 63-8.
    • (2005) Hum Mutat , vol.26 , pp. 63-68
    • Fokkema, I.F.1    Den Dunnen, J.T.2    Taschner, P.E.3
  • 23
    • 33947509029 scopus 로고    scopus 로고
    • A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplification
    • Pagenstecher C, Gadzicki D, Stienen D et al. A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplification. J Mol Diagn 2007, 9: 122-6.
    • (2007) J Mol Diagn , vol.9 , pp. 122-126
    • Pagenstecher, C.1    Gadzicki, D.2    Stienen, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.