MOLECULAR CHARACTERIZATION OF FAMILIAL ADENOMATOUS POLYPOSIS IN THE REPUBLIC OF MACEDONIA
Stefanovska A-M1, Josifovski T2, Panovski M2, Jasar D3, Zografski G3, Efremov GD1, Dimovski AJ1,4,*
*Corresponding Author: Professor Dr. Aleksandar J. Dimovski, Faculty of Pharmacy, Vodnjanska 17, 1000 Skopje, Republic of Macedonia; Tel: +389-2-311-9694; Fax: +389-2-312-3054; E-mail: adimovski@baba.ff.ukim.edu.mk
page: 33

REFERENCES

1. De Vita V, Hellman S, Rosenberg S. Cancer: Principles and Practice in Oncology, VII ed., Lippincott, Williams & Wilkins, 2004

      2. Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 1994; 3(2): 121-125.

      3. de la Chapelle A. Genetic predisposition to colorectal cancer. Nat Rev Cancer 2004; 4:769-790.

      4. Sieber OM, Lamlum H, Crabtree MD, Rowan AJ, Barclay E, Lipton L, Hodgson S, Thomas HJW, Neale K, Phillips RKS, Farrington SM, Dunlop MG, Mueller HJ, Bisgaard ML, Bulow S, Fidalgo P, Albuquerque C, Scarano MI, Bodmer W, Tomlinson IPM, Heinimann K. Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or “multiple” colorectal adenomas. Proc Natl Acad Sci USA 2003; 99(5): 2954-2958.

      5. Bisgaard ML, Ripa R, Knudsen AL, Bulow S. Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype. Gut 2004; 53(2): 266-270.

      6. Spirio, L.; Olschwang, S.; Groden, J.; Robertson, M.; Samowitz, W.; Joslyn, G.; Gelbert, L.; Thliveris, A.; Carlson, M.; Otterud, B.; Lynch, H.; Watson, P.; Lynch, P.; Laurent-Puig, P.; Burt, R.; Hughes, J. P.; Thomas, G.; Leppert, M.; White, R. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1990; 75(5): 951-957.

      7. Soravia C, Berk T, Madlensky L, Mitri A, Cheng H, Gallinger S, Cohen Z, Bapat B. Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet 1998; 62(6): 1290-301.

      8. Vasen HF, Watson P, Mecklin JP, Lynch HT and the ICG-HNPCC. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology 1999; 116(6): 1453-1456.

      9. Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 1999; 36(11): 801-818.

      10. Jarrett CR, Blancato J, Cao T, Bressette DS, Cepeda M, Young PE, King CR, Byers SW . Human APC2 localization and allelic imbalance. Cancer Res 2001; 61(21): 7978-7984.

      11. Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RKS, Bisgaard M-L, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJW, Tomlinson IPM. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003; 348(9): 791-799.

      12. Poncz M, Solowiejczyk D, Harpel B, Mory Y, Schwartz E, Surrey S. Construction of human gene libraries from small amounts of peripheral blood: analysis of b-like globin genes. Hemoglobin 1982; 6(1): 27-36.

      13. Chomczynski P, Sacchi N.. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Annal Biochem 1987; 162(1): 156-9, 1987

      14. Powell SM, Petersen GM, Krush AJ, Booker S, Jen J, Giardiello FM, Hamilton SR, Vogelstein B, Kinzler KW. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993; 329(27): 1982-1987.

      15. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho E, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, le Paslier D, Abderrahim H, Cohen D, Leppert M, White R. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66(3): 589-600.

      16. Olschwang S, Laurent-Puig P, Groden J, White R, Gilles T. Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. Am J Hum Genet 1993; 52(2): 273-279.

      17. Southern, EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975; 98(3): 503-508.

      18. Greer CE, Peterson SL, Kiviat NB, Manos MM: PCR amplification from paraffin-embedded tissues. Am J Clin Pathol 1991; 95(2): 117-124.

      19. Boland RC, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, Meltzer SJ, Rodriguez-Bigas MA, Fodde R, Ranzani NG, Srivastava S: A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998; 58(22): 5248-5257.

      20. Bulow S. Results of national registration of familial adenomatous polyposis. Gut 2003; 52(5): 742-746.

      21. Beroud C, Soussi T. APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 1996; 24(1): 121-124.

      22. DeRosa M, Scarano MI, Panariello L, Carlomagno N, Rossi GB, Tempesta A, Borgheresi P, Renda A, Izzo P. Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis. Eur J Hum Genet 1999; 7(6): 695-703.

      23. Su L, Steinbach G, Sawyer JC, Hindi M, Ward PA, Lynch M. Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis. Hum Genet 2000; 106(1): 101-107.

      24. Joslyn G, Carlson M, Thliveris A, Albertsen H, Gelbert H, Samowitz W, Groden J, Stevens J, Spirio L, Robertson M, Sargeant L, Kraho K, Wollf E, Burt R, Hughes JP, Warrington J, McPhearson J, Wasmuth J, LePaslier D, Abderrahim H, Cohen D, Leppert M, White R. Identification of deletion mutations and three new genes at the familial adenomatous polyposis locus. Cell 1991; 66(3): 601-613.

      25. Herrera L, Kakati S, Gibas L, Pietrzak E, Sandberg AA. Gardner syndrome in a man with an interstitial deletion of 5q. Am J Med Genet 1986; 25(3): 473-476.

      26. Raedle J, Friedl W, Engels H, Koenig R, Trojan J, Zeuzem S. A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation.Am J Gastroenterol 2001; 96(10): 3016-3020.

      27. Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P, Chadwick RB, Kaariainen H, Eskelinen M, Jarvinen H, Mecklinen JP, de la Chapelle A. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening of the disease. N Engl J Med 1998; 338(21): 1481-1487.

      28. Maniatis T, Tasic B. Alternative pre-mRNA splicing and proteome expansion in metazoans. Nature 2002; 418(6894): 236-243.

      29. Samowitz WS, Thliveris A, Spirio LN, White R. Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC. Cancer Res 1995; 55(17): 3732-3734.

      30. Cama A, Esposito DL, Palmirotta R, Curia MC, Ranieri A, Ficari F, Valanzano R, Modesti A, Battista P, Tonelli F, Mariani-Constantini R. A novel mutation at the splice junction of exon 9 of the APC gene in familial adenomatous polyposis. Hum Mut 1995; 3(3): 305-308.

            31. Bala S, Sulekova Z, Ballhausen WG. Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene-specific isoforms. Hum Mutat 1997; 10(3): 201-206.



Number 27
VOL. 27 (2), 2024
Number 27
VOL. 27 (1), 2024
Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006