Do parents and grandparents of patients with achondroplasia have a higher cancer risk?

American Journal of Medical Genetics

Volumn 130 A, Issue 2, 2004, Pages 165-168

  Stoll, C ^a   Feingold, J ^b  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Achondroplasia; Cancer risk; Mutation

Indexed keywords

ACHONDROPLASIA; ADULT; AGED; ARTICLE; CANCER; CANCER RISK; CHRONIC MYELOID LEUKEMIA; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; HERITABILITY; HUMAN; LYMPHOMA; MAJOR CLINICAL STUDY; MALE; MUTATOR GENE; PRIORITY JOURNAL; QUESTIONNAIRE;

ACHONDROPLASIA; CHI-SQUARE DISTRIBUTION; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; NEOPLASMS; PEDIGREE; QUESTIONNAIRES; RISK FACTORS;

EID: 4644295270     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30273     Document Type: Article

References (28)

1. Camera G, Mastroiacovo P. 1988. Birth prevalence and mutation rate of achondroplasia in the Italian Multicentre System for Birth Defects. Basic Life Sci 48:11-15.
2. Claus EB, Risch NJ, Thompson WD. 1994. Autosomal dominant inheritance of early onset breast cancer. Cancer 73:645-651.
3. Friedmann JM. 1997. Genetics and epidemiology: Congenital anomalies and cancer. Am J Hum Genet 60:469-473.
4. Loeb LA. 2001. A mutator phenotype in cancer. Cancer Res 61:3230-3239.
5. Loeb LA, Springgate CF, Battula N. 1974. Errors in DNA replication as a basis of malignant changes. Cancer Res 34:2311-2321.
6. Lynch HT, de la Chapelle A. 1999. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 36:801-818.
7. Maroteaux P, Le Merrer M. 2002. Maladies osseuses de l'enfant. 4th edition. Paris: Medecine Sciences Flammarion. pp 60-65.
8. Martinez Frias ML, Bermejo E, Cereijo A, Sanchez M, Lopez M, Gonzallo C. 1991. Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal recessive malformation syndromes. Am J Med Genet 38:626-629.
9. Mili F, Khoury MJ, Flandres WD, Grennberg RS. 1993a. Risk of childhood cancer for infants with birth defects I. A record-linkage study, Atlanta, Georgia, 1968-1988. Am J Epidemiol 137:629-638.
10. Mili F, Lynch CF, Khoury MJ, Flanders WD, Edmonds LD. 1993b. Risk of childhood cancer for infants with birth defects. II. A record-linkage study, Iowa, 1983-1989. Am J Epidemiol 137:639-644.
11. Miller RW. 1966. Relation between cancer and congenital defects in man. N Engl J Med 257:87-93.
12. Miller RW. 1967. Persons at exceptionally high risk of leukemia. Cancer Res 27:2420-2423.
13. Miller RW. 1968. Relation between cancer and congenital defects: An epidemiological evaluation. J Natl Cancer Inst 40:1079-1085.
14. Miller RW. 1969. Childhood cancer and congenital defects: A study of US death certificates during the period 1960-1966. Pediatr Res 3:389-397.
15. Nachman MW, Crowell SL. 2000. Estimate of the mutation rate per nucleotide in humans. Genetics 156:297-304.
16. Narod SA, Hawkins MM, Robertson CM, Stiller CA. 1997. Congenital anomalies and childhood cancer in Great Britain. Am J Hum Genet 60:474-485.
17. Orioli IM, Castilla EE, Scarano G, Mastroiacovo P. 1995. Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. Am J Med Genet 59:209-217.
18. Parkin DM, Muir CS, Whelan SL, Goo Y, Ferlay J, Powwel J. 1992. Cancer incidence in five continents. Vol. VI. Lyon, France: IARC.
19. Paulowich AG, Toczyski DP, Hartwell LH. 1997. When checkpoints fail. Cell 88:315-321.
20. Risch N, Reich EW, Wishnick MM, McCarthy JG. 1987. Spontaneous mutation and parental age in humans. Am J Hum Genet 41:218-248.
21. Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozer JM, Maroteaux P, Le Merrer M, Munnich A. 1996. Clinical and genetic heterogeneity of hypochondroplasia. Horm Res 45:108-110.
22. Stoll C, Dott B, Roth MP, Alembik Y. 1989. Birth prevalence rates of skeletal dysplasias. Clin Genet 35:88-92.
23. Tiemann-Boege I, Navidi W, Grewal R, Cohn D, Eskenazi B, Wyrobek AJ, Arnheim N. 2002. The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. PNAS 99:14952-14957.
24. Vogel F, Motulsky AG. 1997. Human genetics: Problems and approaches. Berlin: Springer.
25. Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn JL, Rutland P, et al. 1995. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 9:165-172.
26. Wilkin DJ, Szabo JK, Cameron R, Henderson S, Bellus GA, Mack ML, Kaitila I, Loughlin J, Munnich A, Sykes B. 1988. Mutations in growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternal derived chromosome. Am J Hum Genet 63:711-716.
27. Windham GC, Bjerkedal T, Langmark F. 1985. A population-based study of cancer incidence in children with congenital malformations or low birth weight, Norway, 1967-1982. Am J Epidemiol 121:49-56.
28. Zhu JL, Basso O, Hasle H, Winther JF, Olsen JH, Olsen J. 2002. Do parents of children with congenital malformations have a higher cancer risk? A nationwide study in Denmark. Br J Cancer 87:524-528.