A remarkable APC mosaicism with two mutant alleles in a family with familial adenomatous polyposis

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1500-1502

  Baert Desurmont, Stéphanie ^a   Piton, Nicolas ^a   Bou, Jacqueline ^a   Tinat, Julie ^a   Guimbaud, Rosine ^b   Selves, Janick ^c   Frébourg, Thierry ^a  

^a UNIVERSITÉ DE ROUEN   (France)

^b INSTITUT CLAUDIUS REGAUD   (France)

^c TOULOUSE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; APC GENE; CASE REPORT; COLON POLYPOSIS; COLONOSCOPY; COLORECTAL CANCER; EMBRYO DEVELOPMENT; EXON; FAMILY STUDY; FRANCE; GENE; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; LETTER; MALE; METASTASIS; MICROSATELLITE MARKER; MOLECULAR DIAGNOSIS; MOSAICISM; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; ADULT; BASE SEQUENCE; FRANCE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MOSAICISM; PEDIGREE; POINT MUTATION; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 79956223679     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34017     Document Type: Letter

References (5)

1. Aretz S, Stienen D, Friedrichs N, Stemmler S, Uhlhaas S, Rahner N, Propping P, Friedl W. 2007. Somatic APC mosaicism: A frequent cause of familial adenomatous polyposis (FAP). Hum Mutat 28: 985-992.
2. Hes FJ, Nielsen M, Bik EC, Konvalinka D, Wijnen JT, Bakker E, Vasen HF, Breuning MH, Tops CM. 2008. Somatic APC mosaicism: An underestimated cause of polyposis coli. Gut 57: 71-76.
3. Hirschhorn R. 2003. In vivo reversion to normal of inherited mutations in humans. J Med Genet 40: 721-728.
4. Klaus A, Birchmeier W. 2008. Wnt signalling and its impact on development and cancer. Nat Rev Cancer 8: 387-398.
5. Moser AR, Shoemaker AR, Connelly CS, Clipson L, Gould KA, Luongo C, Dove WF, Siggers PH, Gardner RL. 1995. Homozygosity for the Min allele of Apc results in disruption of mouse development prior to gastrulation. Dev Dyn 203: 422-433.