Clinical utility gene card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)

European Journal of Human Genetics

Volumn 19, Issue 7, 2011, Pages 832-

  Aretz, Stefan ^a   Vasen, Hans F A ^b   Olschwang, Sylviane ^c  

^a UNIVERSITY OF BONN   (Germany)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c INSTITUT PAOLI CALMETTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOMATOSIS; ARTICLE; ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS; COLONOSCOPY; COLORECTAL ADENOMA; COLORECTAL CANCER; DIFFERENTIAL DIAGNOSIS; FAMILIAL COLON POLYPOSIS; FAMILY HISTORY; GASTROINTESTINAL SYMPTOM; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HUMAN; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; MUTATIONAL ANALYSIS; ONSET AGE; PHENOTYPE; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; COLON POLYPOSIS; GENETICS; MUTATION; PREVALENCE;

ADENOMATOUS POLYPOSIS COLI; HUMANS; MUTATION; PREVALENCE;

EID: 79959271186     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.7     Document Type: Article

References (11)

1. Galiatsatos P, Foulkes WD: Familial adenomatous polyposis. Am J Gastroenterol 2006; 101: 385-398. (Pubitemid 43381685)
2. Knudsen AL, Bisgaard ML, Bulow S: Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer 2003; 2: 43-55. (Pubitemid 36534538)
3. Lagarde A, Rouelau E, Ferrari A et al: Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-years medical genetics service to French FAP patients. J Med Genet 2010; 47: 721-722.
4. Friedl W, Aretz S: Familial adenomatous polyposis: experience from a study of 1164 unrelated German polyposis patients. Hereditary Cancer Clin Pract 2005; 3: 95-114.
5. Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J: Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 1994; 3: 121-125. (Pubitemid 24077228)
6. Aretz S, Uhlhaas S, Caspari R et al: Frequency and parental origin of de novo APC mutations in familial adenomatous Polyposis. Eur J Hum Genet 2004; 12: 52-58. (Pubitemid 38180970)
7. Aretz S, Stienen D, Friedrichs N et al: Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). Hum Mutat 2007; 28: 985-992. (Pubitemid 47519391)
8. Bülow S, Faurschou Nielsen T, Bülow C, Bisgaard ML, Karlsen L, Moesgaard F: The incidence rate of familial adenomatous polyposis. Results from the Danish Polyposis Register. Int J Colorectal Dis 1996; 11: 88-91. (Pubitemid 26119242)
9. Aretz S, Hes FJ: Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis. Eur J Hum Genet 2010; 18, E-pub ahead of print 26 May 2010; doi:10.1038/ejhg.2010.77.
10. Rahner N, Steinke V, Schlegelberger B, Olschwang S, Eisinger F, Hutter P: Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2). Eur J Hum Genet 2010; 18, E-pub ahead of print 27 January 2010; doi:10.1038/ejhg.2009. 232.
11. Vasen HFA, Möslein G, Alonso A et al: Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008; 57: 704-713. (Pubitemid 351579987)