Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP

Journal of Medical Genetics

Volumn 47, Issue 10, 2010, Pages 721-722

  Lagarde, Arnaud ^a   Rouleau, Etienne ^b   Ferrari, Anthony ^a,c   Noguchi, Tetsuro ^c   Qiu, Jinghua ^c   Briaux, Adrien ^b   Bourdon, Violaine ^c   Rémy, Virginie ^c   Gaildrat, Pascaline ^d   Adélaïde, José ^a,c   Birnbaum, Daniel ^a,c   Lidereau, Rosette ^b   Sobol, Hagay ^c,e   Olschwang, Sylviane ^a,c  

^a AIX MARSEILLE UNIVERSITY   (France)

^b CENTRE RENÉ HUGUENIN   (France)

^c INSTITUT PAOLI CALMETTES   (France)

^d INSERM   (France)

^e AIX MARSEILLE UNIVERSITY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN;

ACCURACY; ADENOMATOUS POLYP; ARTICLE; FAMILIAL ADENOMATOUS POLYPOSIS; FAMILIAL DISEASE; FRANCE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; GERM LINE; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; FRANCE; GENES, APC; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POINT MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 77957788958     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.078964     Document Type: Article

References (10)

1. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol 2006;101:385-98.
2. Spirio L, Olschwang S, Groden J, Robertson M, Samowitz M, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B, Lynch H, Watson P, Lynch P, Laurent-Puig P, Thomas G, Leppert M, White M. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993;75:951-7.
3. Knudsen AL, Bisgaard ML, Bülow S. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer 2003;2:43-55.
4. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Seargent L, Krapcho K, 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;66:589-600.
5. Tournier I, Vezain M, Martins A, Charbonnier F, Baert-Desurmont S, Olschwang S, Wang Q, Buisine MP, Soret J, Tazi J, Frébourg T, Tosi M. A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. Hum Mutat 2008;29:1412-24.
6. Liu J, Xing Y, Rinds TR, Zheng J, Wenqing X. The third 20 amino acid repeat is the tightest binding site of APC for b-catenin. J Mol Biol 2006;360:133-44. (Pubitemid 43927813)
7. Aretz S, Stienen D, Uhlhaas S, Pagenstecher C, Mangold E, Caspari R, Propping P, Friedl W. Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis. J Med Genet 2005;42:185-92.
8. Aretz S, Uhlhaas S, Caspari R, Mangold E, Pagenstecher C, Propping P, Friedl W. Frequency and parental origin of de novo APC mutations in familial adenomatous Polyposis. Eur J Hum Genet 2004;12:52-8. (Pubitemid 38180970)
9. Romero-Gimenez J, Dopeso H, Blanco I, Guerra-Moreno A, Gonzalez S, Vogt S, Aretz S, Schwartz S Jr, Capella G, Arango D. Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous Polyposis in APC/MUTYH mutation negative families. Int J Cancer 2008;122:1422-5. (Pubitemid 351287245)
10. Hes FJ, Nielsen M, Bik EC, Konvalinka D, Wijnen JT, Bakker E, Vasen HF, Breuning MH, Tops CM. Somatic APC mosaicism: an underestimated cause of polyposis coli. Gut 2008;57:71-6.