Gonadal mosaicism and familial adenomatous polyposis

Familial Cancer

Volumn 7, Issue 2, 2008, Pages 173-177

  Schwab, Angela L ^a   Tuohy, Thérèse M F ^a   Condie, Michelle ^a   Neklason, Deborah W ^a,b   Burt, Randall W ^b  

^a UNIVERSITY OF UTAH   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Adenomatous polyposis coli (APC); De novo mutation; Familial adenomatous polyposis (FAP); Gonadal mosaicism

Indexed keywords

APC PROTEIN;

ADENOMATOUS POLYP; ARTICLE; COLON POLYPOSIS; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GONAD; HAPLOTYPE; MOSAICISM; PRIORITY JOURNAL;

ADENOMATOUS POLYPOSIS COLI; ALLELES; FEMALE; GENETIC SCREENING; GENOTYPE; GONADAL DYSGENESIS, MIXED; HUMANS; MALE; MOSAICISM; MUTATION; PEDIGREE; RISK FACTORS; SIBLINGS;

EID: 45849125785     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-007-9169-1     Document Type: Article

References (23)

1. Petersen GM, Slack J, Nakamura Y (1991) Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology 100(6):1658-1664 Jun
2. Burt RW (2003) Gastric fundic gland polyps. Gastroenterology 125(5):1462-1469 Nov
3. Kadmon M, Tandara A, Herfarth C (2001) Duodenal adenomatosis in familial adenomatous polyposis coli. A review of the literature and results from the Heidelberg Polyposis Register. Int J Colorectal Dis 16(2):63-75 Apr
4. Cetta F, Curia MC, Montalto G et al (2001) Thyroid carcinoma usually occurs in patients with familial adenomatous polyposis in the absence of biallelic inactivation of the adenomatous polyposis coli gene. J Clin Endocrinol Metab 86(1):427-432 Jan
5. Cetta F, Montalto G, Gori M, Curia MC, Cama A, Olschwang S (2000) Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study. Journal of Clin Endocrinol Metabolism 85(1):286-292 Jan
6. Wallace MH, Phillips RK (1998) Upper gastrointestinal disease in patients with familial adenomatous polyposis. Br J Surg 85(6):742-750 Jun
7. Rustin RB, Jagelman DG, McGannon E, Fazio VW, Lavery IC, Weakley FL (1990) Spontaneous mutation in familial adenomatous polyposis. Dis Colon Rectum 33(1):52-55 Jan
8. Davidson S, Leshanski L, Rennert G, Eidelman S, Amikam D (2002) Maternal mosaicism for a second mutational event-a novel deletion-in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC. Hum Mutat 19(1):83-84 Jan
9. Niu DM, Huang JY, Li HY et al (2006) Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome. Prenat Diagn 26(11):1054-1057 Nov
10. Depienne C, Arzimanoglou A, Trouillard O et al (2006) Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum Mutat 27(4):389 Apr
11. Gennaro E, Santorelli FM, Bertini E et al (2006) Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochem Biophys Res Commun 341(2):489-493 Mar 10
12. Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC (1988) Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 42(2):237-248 Feb
13. Cohen-Solal L, Bonaventure J, Maroteaux P (1991) Dominant mutations in familial lethal and severe osteogenesis imperfecta. Hum Genet 87(3):297-301 Jul
14. Grange DK, Balfour IC, Chen SC, Wood EG (1998) Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. Am J Med Genet 75(5):469-480 Feb 17
15. Lund AM, Nicholls AC, Schwartz M, Skovby F (1997) Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. Acta Paediatr 86(7):711-718 Jul
16. Raghunath M, Mackay K, Dalgleish R, Steinmann B (1995) Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation. Eur J Pediatr 154(2):123-129 Feb
17. Somprasit C, Aguinaga M, Cisneros PL et al (2004) Paternal gonadal mosaicism detected in a couple with recurrent abortions undergoing PGD: FISH analysis of sperm nuclei proves valuable. Reprod Biomed Online 9(2):225-230 Aug
18. den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15(1):7-12
19. Farrington SM, Dunlop MG (1999) Mosaicism and sporadic familial adenomatous polyposis. Am J Hum Genet 64(2):653-658 Feb
20. Aretz S, Stienen D, Friedrichs N et al (2007) Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). Hum Mutat 28(10):985-992
21. Hes FJ, Nielsen M, Bik EC, et al (2007) Somatic APC Mosaicism: An Underestimated Cause Of Polyposis Coli. Gut (in press)
22. Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J (1994) Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 3(2):121-125
23. Aretz S, Uhlhaas S, Caspari R et al (2004) Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. Eur J Hum Genet 12(1):52-58 Jan