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Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients

By Florentia Fostira, Georgia Thodi, Raphael Sandaltzopoulos, George Fountzilas and Drakoulis Yannoukakos
Topics: Research Article
Publisher: BioMed Central
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Provided by: PubMed Central

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  1. (2003). Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer
  2. (1998). B: A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. Hum Mutat
  3. (1998). Bapat B: Genotype-phenotype correlations in attenuated adenomatous polyposis coli.
  4. (2001). Bodmer WF: The ABC of APC. Hum Mol Genet
  5. (2009). Carracedo A, RuizPonte C: Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?
  6. (2008). Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. BMC Med
  7. (1992). Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res
  8. (1994). Delhanty JD: Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli. Hum Mol Genet
  9. (1994). Familial adenomatous polyposis (FAP): frequency penetrance, and mutation rate. Hum Mutat
  10. (2006). Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts.
  11. (2002). FC: De novo mutations in familial adenomatous polyposis (FAP).
  12. (2005). Finestres F: Hereditary familial polyposis and Gardner’s syndrome: contribution of the odontostomatology examination in its diagnosis and a case description. Med Oral Patol Oral Cir Bucal
  13. (2004). Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.
  14. (2005). G: Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands. Cancer Genet Cytogenet
  15. (1988). HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res
  16. (1991). Identification and characterization of the familial adenomatous polyposis coli gene. Cell
  17. (2002). JP: Inherited variants of MYH associated with somatic G:C–>T:A mutations in colorectal tumors. Nat Genet
  18. (1995). Khan P: APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis. Hum Genet
  19. (1993). Kinzler KW: Molecular diagnosis of familial adenomatous polyposis.
  20. (2003). Multiple approach to the exploration of genotypephenotype correlations in familial adenomatous polyposis.
  21. (2003). Nasioulas G: Genetic alterations of the APC gene in familial Fostira et al.
  22. (2003). Nasioulas G: Novel mutations of the APC gene in familial adenomatous polyposis in Greek patients. Cancer Genet Cytogenet
  23. (1991). Nishisho I, Nakamura Y: Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers. Science
  24. (1996). Propping P: Attenuated familial adenomatous polyposis due to a mutation in the 3’ part of the APC gene. A clue for understanding the function of the APC protein. Hum Genet
  25. (2001). Propping P: Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut
  26. (1953). Richards RC: Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis.
  27. (2001). the Hunter Family Cancer Service: Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity. Gut
  28. (1994). Timmermanns G: Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet
  29. (2007). Vasen HF: Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature. Crit Rev Oncol Hematol
  30. Yannoukakos D: A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype. Fam Cancer .