|
1. Sokic-Milutinovic A. Appropriate Management of Attenuated Familial Adenomatous Polyposis: Report of a Case and Review of the Literature. Dig Dis 2019; 37(5): 400-5. 2. Shahnazi Gerdehsang P, Ranji N, Gorji M, Pakizehkar S, Kiani AA, Veysi S. New Mutations in APC Gene Among Familial Adenomatous Polyposis (FAP) Patients in Iran. Int J Hum Genet 2017; 17(4): 145-50. 3. Plawski A, Banasiewicz T, Borun P, Kubaszewski L, Krokowicz P, Skrzypczak-Zielinska M, et al. Familial adenomatous polyposis of the colon. Hered Cancer Clin Pr 2013; 11(1): 15. 4. Dalavi SB, Vedpalsingh TH, Bankar SS, Ahmed MH, Bhosale DN. Familial Adenomatous Polyposis (FAP)-A Case Study and Review of Literature. J Clin Diagn Res 2015; 9(3): PD05-6. 5. D'Elia G, Caliendo G, Casamassimi A, Cioffi M, Molinari AM, Vietri MT. APC and MUTYH Analysis in FAP Patients: A Novel Mutation in APC Gene and Genotype-Phenotype Correlation. Genes 2018; 9(7). 6. Ibrahim A, Barnes DR, Dunlop J, Barrowdale D, Antoniou AC, Berg JN. Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer. Eur J Hum Genet 2014; 22(11): 1330–3. 7. De Queiroz Rossanese LB, De Lima Marson FA, Ribeiro JD, Coy CS, Bertuzzo CS. APC germline mutations in families with familial adenomatous polyposis. Oncol Rep 2013; 30(5): 2081-8. 8. Liu Q, Li X, Li S, Qu S, Wang Y, Tang Q, et al. Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis. Tumour Biol 2016; 37(8): 11421-7. 9. Majumder S, Shah R, Elias J, Mistry Y, Coral K, Shah P, et al. A neoepitope derived from a novel human germline APC gene mutation in familial adenomatous polyposis shows selective immunogenicity. PloS One 2018; 13(9): e0203845. 10. Eshghifar N, Farrokhi N, Naji T, Zali M. Tumor suppressor genes in familial adenomatous polyposis. Gastroenterol Hepatol Bed Bench 2017; 10(1): 3-13. 11. Behboudi Farahbakhsh F, Maghsoudi H, Asadzadeh Aghdaei H, Nazemalhosseini-Mojarad E. Germline mutation at codon 1309 of the adenomatous polyposis coli gene and exteracolonic manifestations in familial adenomatous polyposis. Tehran Univ Med J 2017; 75(4): 259-66. 12. Hyer W, Cohen S, Attard T, Vila-Miravet V, Pienar C, Auth M, et al. Management of Familial Adenomatous Polyposis in Children and Adolescents: Position Paper From the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr 2019; 68(3): 428-41. 13. Giang H, Nguyen VT, Nguyen SD, Nguyen HP, Vo BT, Nguyen TM, et al. Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam. BMC Med Genet 2018; 19(1): 188. 14. Torrezan GT, da Silva FC, Santos EM, Krepischi AC, Achatz MI, Aguiar SJr, et al. Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients. Orphanet J Rare Dis 2013; 8: 54. 15. Newton KF, Mallinson EK, Bowen J, Lalloo F, Clancy T, Hill J, et al. Genotype-phenotype correlation in colorectal polyposis. Clin Genet 2012; 81(6): 521-31.S 16. Marabelli M, Molinaro V, Abou Khouzam R, Berrino E, Panero M, Balsamo A, et al. Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients. Genet Test Mol Biomarkers 2016; 20(12): 777-85. 17. Thomas LE, Hurley JJ, Meuser E, Jose S, Ashelford KE, Mort M, et al. Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis. Clin Cancer Res 2017; 23(21): 6721-32. 18. Fearnhead NS, Britton MP, Bodmer WF. The ABC of APC. Hum Mol Genet 2001; 10(7): 721-33. 19. Hankey W, Frankel WL, Groden J. Functions of the APC tumor suppressor protein dependent and independent of canonical WNT signaling: implications for therapeutic targeting. Cancer Metastasis Rev 2018; 37(1): 159-72. 20. Russo L, Cifarelli RA, Di Venere B, Sgambato A, Susi M ,Fragasso A, et al. Novel Germline Mutation (Q1260X) in APC Gene Causes Familial Adenomatous Polyposis in a Ukrainian Family. J Genet Syndr Gene Ther 2013; 4(10): 1-4. 21. Ikenoue T, Yamaguchi K, Komura M, Imoto S, Yamaguchi R, Shimizu E, et al. Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation. Hum Genome Var 2015; 2: 15011. 22. Iwaizumi M, Tao H, Yamaguchi K, Yamada H, Shinmura K, Kahyo T, et al. A novel APC mosaicism in a patient with familial adenomatous polyposis. Hum Genome Var 2015; 2: 15057. 23. Yang J, Liu WQ, Li WL, Chen C, Zhu Z, Hong M, et al. Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients. Oncol Lett 2016; 12(1): 421-8. 24. Kashfi SM, Behboudi Farahbakhsh F, Golmohammadi M, Nazemalhosseini Mojarad E, Azimzadeh P, Asadzadeh Aghdaie H. Frameshift Mutations (Deletion at Codon 1309 and Codon 849) in the APC Gene in Iranian FAP Patients: a Case Series and Review of the Literature. Int J Mol Cell Med 2014; 3(3): 196-202. 25. Chen QW, Zhang XM, Zhou JN, Zhou X, Ma GJ, Zhu M, et al. Analysis of Small Fragment Deletions of the APC gene in Chinese Patients with Familial Adenomatous Polyposis, a Precancerous Condition. Asian Pac J Cancer Prev 2015; 16(12): 4915-20.
|
.png){kind=logo}
