Skip to main content

Familial cancer syndromes and genetic counseling

  • Chapter

Part of the book series: Cancer Treatment and Research ((CTAR,volume 92))

Abstract

The past several years have witnessed the identification of numerous genes that contribute to cancer development, many of which may be inherited in an altered state so as to predispose to the development of cancer. Collectively, the application of these new gene discoveries will have a significant impact on public health in both pediatric and adult medical practices.

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   259.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   329.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   329.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Alber DM, Dryja TP. 1986. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 323:643.

    PubMed  CAS  Google Scholar 

  2. Call KM, Glaser T, Ito CY, Buckler AJ, Pelletier J, Haber DA, Rose EA, Kral A, Yeger H, Lewis WH, Jones C, Housman DE. 1990. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms’ tumor locus. Cell 60:509–520.

    PubMed  CAS  Google Scholar 

  3. Malkin K, Li FP, Strong LC, Fraumeni JF, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, Friend SH. 1990, Germline p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233–1238.

    PubMed  CAS  Google Scholar 

  4. Xu G, O’Connell P, Viskochil D, Cawthon R, Robertson M, Culver M, Dunn D, Stevens J, Gesteland R, White R, Weiss R. 1990. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62:599–608.

    PubMed  CAS  Google Scholar 

  5. Groden J, Thliveris A, Samowitz W, et al. 1991. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66:589–600.

    PubMed  CAS  Google Scholar 

  6. Wooster R, Mangion J, Eeles R, Smith S, Dowsett M, Averill D, Barrett-Lee P, Easton DF, Ponder BA, Stratton MR. 1992. A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Nature Genet 2:132–134.

    PubMed  CAS  Google Scholar 

  7. Latif F, Tory K, Gnarra J, et al. 1993. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260:1317–1320.

    PubMed  CAS  Google Scholar 

  8. Trofatter JA, MacCollin MM, Rutter JL, et al. 1993. A novel moesin-, exrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72:791–800.

    PubMed  CAS  Google Scholar 

  9. Mulligan LM, Kwok JBJ, Healey CS, et al. 1993. Germ-line mutations of the RET protooncogene in multiple endocrine neoplasia type 2A. Nature 363:458–460.

    PubMed  CAS  Google Scholar 

  10. Leach FS, Nicolaides NC, Papadopoullos N, et al. 1993. A mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75:1215–1225.

    PubMed  CAS  Google Scholar 

  11. Nicolaides N, Papadopoulos N, Liu B, et al. 1994. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371:75–80.

    PubMed  CAS  Google Scholar 

  12. Papadopoulos N, Nicolaides NC, Wei Y-F, et al. 1994. Mutation of a mutL homolog in hereditary colon cancer. Science 263:1625–1631.

    PubMed  CAS  Google Scholar 

  13. Miki Y, Swensen J, Shattuck-Eidens D, et al. 1994. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66–71.

    PubMed  CAS  Google Scholar 

  14. Hussussian CJ, Struewing JP, Goldstein AM, Higgins PAT, Ally DS, Sheahan MD, Clark WH, Tucker MA, Dracopoli MC. 1994. Germline pl6 mutations in familial melanoma. Nature Genet 8:15–21.

    PubMed  CAS  Google Scholar 

  15. Wooster R, Signold G, Lancaster J, et al. 1995. Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789–782.

    PubMed  CAS  Google Scholar 

  16. Ellis NA, Groden J, Ye T-Z, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J. 1995. The Bloom’s syndrome gene product is homologous to recO helicases. Cell 83:655–666.

    PubMed  CAS  Google Scholar 

  17. Savitsky K, Bar-Shira A, Gilad S, et al. 1995. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268:1749–1753.

    PubMed  CAS  Google Scholar 

  18. Wienecke R, Konig A, DeClue JE. 1995. Identification of tuberin, the tuberous sclerosis-2 product. J Biol Chem 270:16409–16414.

    PubMed  CAS  Google Scholar 

  19. Johnson R, Rothman A, Xie J, Goodrich L, Bare J, Bonifas J, Quinn E, Myers R, Cox D, Epstein E, Scott M. 1996, Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272:1668–1671.

    PubMed  CAS  Google Scholar 

  20. Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D. 1996. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nature Genet 12:241–247.

    PubMed  CAS  Google Scholar 

  21. Francke U, Kung F. 1976. Sporadic bilateral retinoblastoma in 13q-chromosomal deletion. Med Pediatr Oncol 2:379–385.

    PubMed  CAS  Google Scholar 

  22. Knudson AG, Meadows AT, Nichols WW, Hill R. 1976. Chromosomal deletion and retinoblastoma. N Eng J Med 295:1120–1123.

    Google Scholar 

  23. Riccardi VM, Sujansky E, Smith AC, Francke U. 1978. Chromosome imbalance in the aniridia-Wilms’ tumor association: l1p interstitial deletion. Pediatrics 61:604–610.

    PubMed  CAS  Google Scholar 

  24. Yunis JJ, Ramsay NKC. 1980. Familial occurrence of the aniridia-Wilms’ tumor with deletion llpl3–14.1. J Pediatr 96:1027–1030.

    PubMed  CAS  Google Scholar 

  25. Wooster R, Neuhausen SL, Mangion J, et al. 1994. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13ql2–13. Science 265:2088–2090.

    PubMed  CAS  Google Scholar 

  26. Hall JM, Lee MK, Morrow J, Newman B, Anderson L., Huey B, King MC. 1990. Linkage analysis of early onset familial breast cancer to chromosome 17q21. Science 250:1684–1689.

    PubMed  CAS  Google Scholar 

  27. Peltomaki P, Aaltonen LA, Sistonen P, et al. 1993. Genetic mapping of a locus predisposing to human colorectal cancer. Science 260:810–812.

    PubMed  CAS  Google Scholar 

  28. Draper GJ, Sanders EL, Lennox EL, Brownhill PA. 1996. Patterns of childhood cancer among siblings. Br J Cancer 74:152–158.

    PubMed  CAS  Google Scholar 

  29. Knudson AG. 1971. Mutation and cancer: statistical study of retinoblastoma. Proc Nat Acad Sci USA 68:820–823.

    PubMed  Google Scholar 

  30. Knudson AG, Strong LC. 1972. Mutation and cancer: a model for Wilms’ tumor of the kidney. J Natl Cancer Inst 48:313–324.

    PubMed  Google Scholar 

  31. Knudson A, Strong L, 1972. Mutation and cancer: neuroblastoma and pheochromocytoma. Am J Hum Genet 24:514–524.

    PubMed  Google Scholar 

  32. Neuhausen SL, Mazoyer S, Friedman L, et al. 1996. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet 58:271–280.

    PubMed  CAS  Google Scholar 

  33. The frequency of neurofibromatosis, in Crowe F, Schull W, Neel J (eds.), The Frequency of Neurofibromatosis. Springfield, Illinois: CC Thomas, 1956, pp. 142–146.

    Google Scholar 

  34. Vogel F. 1979. Genetics of retinoblastoma. Hum Genet 52:1–54.

    PubMed  CAS  Google Scholar 

  35. Gallie BL, Ellsworth RM, Abramson DH, Phillips RA. 1982. Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation? Br J Cancer 45:513–521.

    PubMed  CAS  Google Scholar 

  36. Draper GJ, Sanders BM, Brownbill PA, Hawkins MM. 1992. Patterns of risk of hereditary retinoblastoma and applications to genetic counseling. Br J Cancer 66:211–219.

    PubMed  CAS  Google Scholar 

  37. Onadim X, Hogg A, Baird P, Cowell J. 1992. Oncogeneic point mutations in exon 20 of the RBI gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype. Proc Natl Acad Sci USA 89:6177.

    PubMed  CAS  Google Scholar 

  38. Sakai T, Ohtani N, McGee TL, Robbins PD, Dryja TP. 1991. Oncogenic germline mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature 353:83.

    PubMed  CAS  Google Scholar 

  39. Toguchida J, McGee TL, Petersen JC, Eagle JR, Tucker S, Yandell DW, Dryja TP. 1993. Complete genomic sequence of the human retinoblastoma susceptibility gene. Genomics 17:535–543.

    PubMed  CAS  Google Scholar 

  40. Dryja T, Rapaport J, Joyce J, Petersen R. 1986. Molecular detection of deletions involving band ql4 of chromosome 13 in retinoblastoma. Proc Natl Acad Sci USA 83:7391–7394.

    PubMed  CAS  Google Scholar 

  41. Ejima Y, Sasaki MS, Kaneko A, Tamooka H. 1988. Types, rates, origin and expressivity of chromosome mutations involving 13ql4 in retinoblastoma patients. Hum Genet 79:118–123.

    PubMed  CAS  Google Scholar 

  42. Horsthemke B, Barnert H, Gregor V, Passarge E, Hopping W. 1987. Early diagnosis in hereditary retinoblastoma by detection of molecular deletions at the locus. Lancet 1:511–512.

    PubMed  CAS  Google Scholar 

  43. Yandell DW, Campbell TA, Dayton SH, Petersen R, Walton D, Little JB, McConkie-Rosell A, Buckley BG, Dryja TP. 1989. Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. N Engl J Med 321:1689–1695.

    PubMed  CAS  Google Scholar 

  44. Dunn JM, Phillips RA, Becker AJ, Gallie BL. 1988. Identification of germline and somatic mutations affecting the retinoblastoma gene. Science 241:1797–1800.

    PubMed  CAS  Google Scholar 

  45. Blanquet V, Turleau C, Gross-Morand MS, Senamaud-Beaufort C, Doz F, Besmond C. 1995. Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non-hereditary retinoblastoma. Hum Mol Genet 4:383–388.

    PubMed  CAS  Google Scholar 

  46. Wiggs J, Nordenskjold M, Yandell D, et al. 1988. Prediction of the risk of hereditary retinoblastoma using DNA polymorphisms within the retinoblastoma gene. N Engl J Med 318:151–157.

    PubMed  CAS  Google Scholar 

  47. Yandell DW, Dryja TP. 1989. Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am J Hum Genet 45:547–555.

    PubMed  CAS  Google Scholar 

  48. Onadim Z, Hungerford J, Cowell JK. 1992. Follow-up of retinoblastoma patients having prenatal and perinatal predictions for mutant gene carrier status using intragenic polymorphic probes from the RB1 gene. Br J Cancer 65:711–716.

    PubMed  CAS  Google Scholar 

  49. Draper G, Sanders B, Kingston J. 1986. Second primary neoplasms in patients with retinoblastoma. Br J Cancer 53:661–671.

    PubMed  CAS  Google Scholar 

  50. Winther J, Olsen JH, deNully Brown P. 1988. Risk of nonocular cancer among retinoblastoma patients and their parents: a population-based study in Denmark. Cancer 62:1458–1462.

    PubMed  CAS  Google Scholar 

  51. Eng C, Li FP, Abramson DH, Ellsworth RM, Wong L, Goldman MB, Seddon J, Tarbell N, Boice JD. 1993. Mortality from second tumors among long-term survivors of retinoblastoma. J Natl Cancer Inst 85:1121–1128.

    PubMed  CAS  Google Scholar 

  52. Li FP, Abramson DH, Taron RE, Kleinerman R A, Fraumeni JF, Boice JD. 1997. Hereditary retinoblastoma, lipoma and second primary cancers. J Natl Cancer Inst 89:83–84.

    PubMed  CAS  Google Scholar 

  53. Hansen MF, Koufos A, Gallie BL, Phillips RA, Fodstad O, Brogger A, Gedde-Dahl T, Cavenee WK. 1985. Osteosarcoma and retinoblastoma: a shared chromosomal mechanism revealing recessive predisposition. Proc Natl Acad Sci USA 82:6216–6220.

    PubMed  CAS  Google Scholar 

  54. Francke U, Holmes LB, Atkins L, Riccardi VM, 1979. Aniridia-Wilms’ tumor association: evidence for specific deletion of llpl3. Cytogenet Cell Genet 24:185–192.

    PubMed  CAS  Google Scholar 

  55. Gessler M, Poustka A, Cavenee W, Neve RL, Orkin SH, Bruns G. 1990. Homozygous deletion in Wilms’ tumours of a zinc-finger gene identified by chromosome jumping. Nature 346:194–197.

    Google Scholar 

  56. van Heyningen V, Bickmore WA, Seawright A, Fletcher K, Maule J, Fekete G, Gessler M, Bruns GAP, Huerre-Jeanpierre C, Junien C, Williams BRG, Hastie ND. 1990. Role for the Wilms’ tumor gene in genital development? Proc Natl Acad Sci USA 87:5383–5386.

    PubMed  Google Scholar 

  57. Brown K, Wilmore H, Watson J, Mott M, Berry P. 1993. Low frequency of mutations in the WT1 coding regions in Wilms’ tumor. Genes Chromosomes Cancer 8:74–79.

    PubMed  CAS  Google Scholar 

  58. Li FP, Breslow N, Morgan JM, Ghahremani M, Miller GA, Grundy PE, Green DM, Diller LR, Pelletier J. 1996. Germline WT1 mutations in Wilms’ tumor patients: preliminary results. Med Pediatr Oncol 27:404–407.

    PubMed  CAS  Google Scholar 

  59. Pelletier J, Bruening W, Kashtan CE, et al. 1991. Germline mutations in the Wilms’ tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 87:437–447.

    Google Scholar 

  60. Coppes MJ, Huff V, Pelletier J. 1993. Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1. J Pediatr 123:673–678.

    PubMed  CAS  Google Scholar 

  61. Beckwith JB, 1969. Macroglossia, omphalocoele, adrenal cytomegaly, gigantism and hyperplastic visceromegaly. Birth Defects 5:188–196.

    Google Scholar 

  62. Wiedemann H. 1964. Complexe malformatif familial avec hernie ombilicale et macroglossie — ‘un syndrome nouveau’? J Genet Hum 13:223–232.

    PubMed  CAS  Google Scholar 

  63. Ping AJ, Reeve AE, Law DJ, Young MR, Boehnke M, Feinberg AP. 1989. Genetic linkage of Beckwith-Wiedemann syndrome to 11pl5. Am J Hum Genet 44:720–723.

    PubMed  CAS  Google Scholar 

  64. Koufos A, Grundy P, Morgan K, Aleck K, Hadro T, Lampkin B, Kalbakju A, Cavenee W. 1989. Familial Wiedemann-Beckwith syndrome and a second Wilms’ tumor locus both map to llpl5.5. Am J Hum Genet 44:711–719.

    PubMed  CAS  Google Scholar 

  65. Pettenati M, Haines J, Higgins R, Wappner R, Palmer C, Weaver D. 1986. Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 74:143–154.

    PubMed  CAS  Google Scholar 

  66. Ben-Galim E, Gross-Kieselstein E, Abrahamov A. 1977. Beckwith-Wiedemann syndrome in a mother and her son. Am J Dis Child 131:801–803.

    PubMed  CAS  Google Scholar 

  67. Best L, Hoekstra R. 1981. Wiedemann-Beckwith syndome: autosomal-dominant inheritance in a family. Am J Hum Genet 9:291–299.

    CAS  Google Scholar 

  68. Niikawa N, Ishikiriyama S, Takahashi S, Inagawa A, Tonoki M, Ohta Y, Hase N, Kamel T, Kaju T. 1986. The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity. Am J Hum Genet 24:41–55.

    CAS  Google Scholar 

  69. Fraumeni J, Geiser C, Manning M. 1967. Wilms’ tumor and congenital hemihypertrophy: report of five new cases and review of the literature. Pediatrics 40:886–899.

    PubMed  Google Scholar 

  70. Smith P, Sullivan M, Algar E, Shapiro D. 1994. Analysis of paediatric tumour types associated with hemihyperptasia in childhood. J Pediatr Child Health 30:515–517.

    CAS  Google Scholar 

  71. Grundy P, Koufos A, Morgan K, Li F, Meadows A, Cavenee W. 1988. Familial predisposition to Wilms’ tumor does not map to the short arm of chromosome 11. Nature 336:374–376.

    PubMed  CAS  Google Scholar 

  72. Huff V, Compton D, Ly C, Lc S, Gf S. 1990. Lack of linkage of familial Wilms’ tumor to chromosomal band llpl3. Nature 336:6117–6120.

    Google Scholar 

  73. Pelletier J, Bruening W, Li F, Haber D, Glaser T, Housman D. 1991. WT1 mutations contribute to abnormal genital system development and hereditary Wilms’ tumor. Nature 353:431–434.

    PubMed  CAS  Google Scholar 

  74. Huff V, Reeve A, Leppert M, Strong L, Douglass E, Geiser C, Li F, Meadows A, Callen D, Lenoir G, Saunders G. 1992. Nonlinkage of 16q markers to familial predisposition to Wilms’ tumor. Cancer Res 52:6117–6120.

    PubMed  CAS  Google Scholar 

  75. Rahman N, Arbour L, Tonin P, Renshaw J, Pelletier J, Barchel S, Pritchard-Jones K, Stratton MR, Narod SA. 1996. Evidence for a familial Wilms’ tumor gene (FWT1) on chromosome 17ql2–21. Nature Genet 13:461–463.

    PubMed  CAS  Google Scholar 

  76. Altura RA, Valentine M, Li H, Boyett JM, Shearer P, Grundy P, Shapiro DN, Look AT. 1996. Identification of novel regions of deletion in familial Wilms’ tumor by comparative genomic hybridization. Cancer Res 56:3837–3841.

    PubMed  CAS  Google Scholar 

  77. Hughes-Benzie RM, Hunter AGW, Allanson JE, MacKenzie AE. 1992. Simpson-Golabi-Behmel Syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21. Am J Med Genet 43:428–435.

    PubMed  CAS  Google Scholar 

  78. Verloes A, Massart B, Dehalleux I, Langhendries J-P, Koulischer L 1995. Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall. Clin Genet 47:257–262.

    PubMed  CAS  Google Scholar 

  79. Xuan J, Besner A, Ireland M, Hughes-Benzie R, MacKenzie A. 1994. Mapping of Simpson-Golabi-Behmel syndrome to Xq25–27. Hum Mol Genet 3:133–137.

    PubMed  CAS  Google Scholar 

  80. Orth U, Gurrieri F, Behmel A, Genuardi Cremer M, Gal A, Neri G. 1994. Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families. Am J Med Genet 50:388–390.

    PubMed  CAS  Google Scholar 

  81. Li FP, Fraumeni JF 1982. Prospective study of a family cancer syndrome. JAMA 247:2692–2694.

    PubMed  CAS  Google Scholar 

  82. Hartley AL, Birch JM, Tricker K, Wallace SA, Kelsey AM, Harris M, Morris Jones PH. 1993. Wilms’ tumor in a Li-Fraumeni cancer family syndrome. Cancer Genet Cytogenet 67:133–135.

    PubMed  CAS  Google Scholar 

  83. Bardeesy N, Falkoff D, Petruzzi M-J, Norma N, Zable B, Adam M, Aguiar M, Grundy P, Shows T, Pelletier J. 1994. Anaplastic Wilms’ tumor, a subtype displaying poor prognosis, harbours p53 gene mutations. Nature Genet 7:91–97.

    PubMed  CAS  Google Scholar 

  84. Malkin D, Sexsmith E, Yeger H, Williams BR, Coppes M. 1994. Mutations of the p53 tumor suppressor gene occur infrequently in Wilms’ tumor. Cancer Res 54:2077–2079.

    PubMed  CAS  Google Scholar 

  85. Beckwith JB. 1993. Precursor lesions of Wilms tumor: clinical and biological implications. J Pediatr 21:158–168.

    CAS  Google Scholar 

  86. Li FP, Williams WR, Gimbrere BA, Flamant F, Green DM, Meadows AT. 1988. Heritable fraction of unilateral Wilms’ tumor. Pediatrics 81:147–149.

    PubMed  CAS  Google Scholar 

  87. Green D, Breslow N, Beckwith J, Norkool P. 1993. Screening of children with hemi-hypertrophy, aniridia, and Beckwith-Wiedemann syndrome in patients with Wilms’ tumor: a report from the National Wilms’ Tumor Study. Med Pediatr Oncol 21:188–192.

    PubMed  CAS  Google Scholar 

  88. DeBaun M, Brown M, Kessler L. 1996. Screening for cancer in children with Beckwith Wiedemann syndrome (BWS): a cost-effective analysis. Am J Hum Genet 57:A57.

    Google Scholar 

  89. Li FP, Fraumeni JF. 1969. Soft-tissue sarcomas, breast cancer and other neoplasms. Ann Intern Med 71:747–752.

    PubMed  CAS  Google Scholar 

  90. Miller R. 1968. Deaths from childhood cancer in sibs. N Eng J Med 279:122.

    CAS  Google Scholar 

  91. Li F, Fraumeni J, Mulvihill J, Blattner WA, Dreyfus MG, Tucker MA, Miller RW. 1988. A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358–5362.

    PubMed  CAS  Google Scholar 

  92. Srivastava S, Zou Z, Pirollo K, Blattner W, Chang E. 1990. Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature 348:747–749.

    PubMed  CAS  Google Scholar 

  93. Warneford S, Witton L, Townsend M, Rowe P, Reddel R, Dalla-Possa L, Symonds G. 1992. Germ-line splicing mutation of the p53 gene in a cancer-prone family. Cell Growth Differ 3:839–846.

    PubMed  CAS  Google Scholar 

  94. Law J, Strong L, Chidambara A, Ferrell R. 1991. A germline mutation in exon 5 of the p53 gene in an extended cancer family. Cancer Res 51:6385–6387.

    PubMed  CAS  Google Scholar 

  95. Santibanez-Koref M, Birch J, Harley A, Morris Jones P, Craft A, Eden T, Crowther D, Kelsey A, Harris C. 1991. p53 germline mutation in Li-Fraumeni syndrome. Lancet 338:1490–1491.

    PubMed  Google Scholar 

  96. Brugieres L, Gardes M, Moutou C, Chompret A, Meresse V, Martin N, Poisson F, Flamant F, Bonaiti-Pellie C, Lemerle J, Feunteun J. 1993. Screening for germ-line p53 mutations in children with malignant tumors and a family history of cancer. Cancer Res 53:452–455.

    PubMed  CAS  Google Scholar 

  97. Stolzenberg M-C, Brugieres L, Garders M, Dessarps-Freichey F, Chompret A, Bressac B, Lenoir G, Bonaiti-Pellie C, Lemerle J, Feunteun J. 1994. Germ-line exclusion of a single p53 allele by premature termination of translation in a Li-Fraumeni syndrome family. Oncogene 9:2799–2804.

    PubMed  CAS  Google Scholar 

  98. Frebourg T, Barbier N, Yan Y-X, Garber J, Dreyfus M, Fraumeni J, Li F, Friend S. 1995. Germ-line p53 mutations in 15 families with Li-Fraumeni Syndrome. Am J Hum Genet 56:608–615.

    PubMed  CAS  Google Scholar 

  99. Gutierrez MI, Bahatia KG, Barreiro C, Spangler G, Schvartzmann E, Sackmann F, Magrath M, Magrath IT. 1994. A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors. Hum Mol Genet 3:2247–2248.

    PubMed  CAS  Google Scholar 

  100. Eeles R, Warren W, Knee G, Bartek J, Averill D, Stratton M, Blake P, Tait D, Lane D, Easton D, Yarnold J, Cooper C, Sloane J. 1993. Constitutional mutation in exon 7 of the p53 gene in a patient with multiple primary tumors: molecular and immunohistochemical findings. Oncogene 8:1269–1276.

    PubMed  CAS  Google Scholar 

  101. Felix CA, Strauss EA, D’Amico D, et al. 1993. A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm. Oncogene 8:1203–1210.

    PubMed  CAS  Google Scholar 

  102. Horio Y, Suzuki H, Uedo R, Koshikawa T, Sugiura T, Ariyoshi Y, Shimokata K, Takahashi T. 1994. Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation. Oncogene 9:1231–1235.

    PubMed  CAS  Google Scholar 

  103. Diller L, Sexsmith E, Gottlieb A, Li F, Malkin D. 1995. Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma. J Clin Invest 95:

    Google Scholar 

  104. McIntyre JF, Smith-Sorensen B, Friend SH, et al. 1994. Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma. J Clin Oncol 12:925–930.

    PubMed  CAS  Google Scholar 

  105. Wagner J, Portwine C, Rabin K, Jean-Marie L, Narod S, Malkin D. High frequency of germline p53 mutations in childhood adrenocortical cancer. J Natl Cancer Inst 86:1707–1710.

    Google Scholar 

  106. Felix C, Nau M, Takahashi T, Mitsudomi T, Chiba I, Poplack D, Reaman G, Cole D, Letterio J, Whang-Peng J, Knutsen T, Minna J. 1992. Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. J Clin Invest 89:640–647.

    PubMed  CAS  Google Scholar 

  107. Felix C, D-Amico D, Mitsudomi T. 1992. Absence of hereditary p53 mutations in 10 familial leukemia pedigrees. J Clin Invest 90:653

    PubMed  CAS  Google Scholar 

  108. Toguchida J, Yamaguchi T, Dayton S, et al. 1992. Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. N Engl J Med 326:1301–1308.

    PubMed  CAS  Google Scholar 

  109. Sameshima Y, Tsunematsu Y, Watanabe S, Tsukamoto T, Kawa-ha K, Hirata Y, Mizoguchi H, Sugimura T, Terada M, Yokota J. 1992. Detection of novel germline p53 mutations in diverse cancer-prone families identified by selecting patients with childhood adrenocortical carcinoma. J Natl Cancer Inst 89:703–707.

    Google Scholar 

  110. Li FP, Garber JE, Friend SH, Strong LC, Patenaude AF, Juengst ET, Reilly PR, Correa P, Fraumeni JF. 1992. Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals. J Natl Cancer Inst 84:1156.

    PubMed  CAS  Google Scholar 

  111. Huggins M, Bloch M, Kanani S, Quarrell O, Theilman J, Hedrick A, Dickens B, Lynch A, Hayden M. 1990. Ethical and legal dilemmas arising during predictive testing for adult-onset disease: the experience of Huntington disease. Am J Hum Genet 47:4–12.

    PubMed  CAS  Google Scholar 

  112. Turner DR, Willoughby JO. 1990. Ethical issues in Huntington disease presymptomatic testing. Aust NZ J Med 20:545–547.

    CAS  Google Scholar 

  113. Wiggins S, Whyte P, Huggins M, Adam S, Theilmann J, Bloch M, Sheps S, Schechter M, Hayden M. 1992. The psychological consequences of predictive testing for Huntington’s disease. N Eng J Med 327:1401–1405.

    CAS  Google Scholar 

  114. Berk T, Cohen Z, McLeod R, Cullen J. 1987. Surveillance in relatives of patients with adenomatous polyposis. Semin Surg Oncol 3:105–108.

    PubMed  CAS  Google Scholar 

  115. Petersen GM, Slack J, Nakamura Y. 1991. Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology 100:1658–1664.

    PubMed  CAS  Google Scholar 

  116. Bulow S. 1987. Incidence of associated diseases in familial polyposis coli. Semin Surg Oncol 3:84–87.

    PubMed  CAS  Google Scholar 

  117. McAdam WAF, Goligher JC. 1970. The occurrence of desmoids in patients with familial polyposis coli. Br J Surg 57:618–631.

    PubMed  CAS  Google Scholar 

  118. Smith W, Kern B. 1973. The nature of the mutation in familial multiple polyposis: papillary carcinoma of the thyroid, brain tumors and familial multiple polyposis. Dis Colon Rectum 16:264–271.

    PubMed  CAS  Google Scholar 

  119. Jagelman DG. 1987. Extracolonic manifestations of familial polyposis coli. Cancer Genet Cytogenet 27:319–325.

    PubMed  CAS  Google Scholar 

  120. Giardiello FM, OG, Lee DH, et al. 1993. Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis. Gut 34:1394–1396.

    PubMed  CAS  Google Scholar 

  121. Plail R, Glazer G, Thompson J, Bussey H. 1995. Adenomatous polyposis: an association with carcinoma of the thyroid? Br J Surg (Suppl) 72:138.

    Google Scholar 

  122. Kingston J, Herbert A, Draper G, Mann J. 1983. Association between hepatoblastoma and polyposis coli. Arch Dis Children 58:959–962.

    CAS  Google Scholar 

  123. Garber J. Hepatoblastoma and familial adenomatous polyposis. J Natl Cancer Inst 80:1626–1628.

    Google Scholar 

  124. Giardiello F. 1991. Risk of hepatoblastoma in familial adenomatous polyposis. J Pediatr 119:766–768.

    PubMed  CAS  Google Scholar 

  125. Gardner E, Richards R. 1953. Multiple cutaneous and subcutaneous lesions occuring simultaneously with hereditary polyposis and osteomationsis. Am J Hum Genet 5:139–148.

    PubMed  CAS  Google Scholar 

  126. Blair N, Trempe C. 1980. Hypertrophy of the retinal pigment eipithelium associated with Gardner’s syndrome. Am J Opthalmol 90:661–667.

    CAS  Google Scholar 

  127. Lewis RA, Crowder WE, Eierman LA, Nussbaum RL, Ferrell RE. 1984. The Gardner syndrome: significance of ocular features. Opthalmology 91:916–925.

    CAS  Google Scholar 

  128. Herrera L, Kakati S, Gibas L, Pietrzak E, Sandbery A. 1986. Brief clinical report: Gardner Syndrome in a man with an interstitial deletion of 5q. Am J Med Genet 25:473–476.

    PubMed  CAS  Google Scholar 

  129. Bodmer W, Bailey C, Bodmer J, et al. 1987. Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 328: 614–616.

    PubMed  CAS  Google Scholar 

  130. Leppert M, Dobbs M, Scambler P, et al 1987. The gene for familial polyposis coli maps to the long arm of chromosome 5. Science 238:1411–1413.

    PubMed  CAS  Google Scholar 

  131. Khan PM, Tops CMJ, Broek MV, et al. 1988. Close linkage of a highly polymorphic marker (D5S37) to familial adenomatous polyposis (FAP) and confirmation of FAP localization on chromosome 5q21–q22. Hum Genet 79:183–185.

    Google Scholar 

  132. Spirio L, Nelson L, Jolyn G, Leppert M, White R. 1991. A CA Repeat 30–70 KB downstream from the adenomatous polyposis coli (APC) locus. Nucleic Acid Res 19:6348.

    PubMed  CAS  Google Scholar 

  133. Kinzler KW, Nilbet MC, Su L-K, et al. 1991. Identification of FAP locus genes from chromo-some 5q21. Science 253:661–664.

    PubMed  CAS  Google Scholar 

  134. Joslyn G, Carlson M, Thliveris A, et al. 1991. Identification of deletion mutations and three new genes at the familial ployposis locus. Cell 66:601–613.

    PubMed  CAS  Google Scholar 

  135. Nishisho I, Nakamura Y, Miyoshi Y, et al. 1991. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253:665–669.

    PubMed  CAS  Google Scholar 

  136. Miyoshi YAH, Nagase H, Nishisho I, et al. 1992. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci USA 89:4452–4456.

    PubMed  CAS  Google Scholar 

  137. Cottrell S, Bickness D, Kaklamanis L, Bodmer WF. 1992. Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas. Lancet 340:626–630.

    PubMed  CAS  Google Scholar 

  138. Varesco L, Gismondi V, James R, et al. 1993. Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis. Am J Hum Genet 52:280–285.

    PubMed  CAS  Google Scholar 

  139. Olschwang S, Laurent-Puig P, Groden J, White R, Thomas G. 1993. Germ-line mutations in the first 14 exons of the adenomatous polyposis colin (APC) gene. Am J Hum Genet 52:273–279.

    PubMed  CAS  Google Scholar 

  140. Nagase HMY, Horii A, Aoki T, Ogawa M, Utsunomiya J, Baba S, Sasazuki T, Nakamura Y. 1992. Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatosis ployposis patients. Cancer Res 52:4055–4057.

    PubMed  CAS  Google Scholar 

  141. Luijt RVD, Khan M, Vasen H, van Leeuwen CV, Tops C, Roest P, den Dunnen J, Fodde R. 1994. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 20:1–4.

    PubMed  Google Scholar 

  142. Powell SM, Krush AJ, Booker S, Jen J, Giardiello FM, Hamilton SR, Vogelstein B, Kinzler KW. 1993. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 329:1982–1987.

    PubMed  CAS  Google Scholar 

  143. Giardiello FM, Brensinger JD, Petersen GM, Luce MC, Hylind LM, Bacon JA, Booker SV, Parker RD, Hamilton SR. 1997. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med 336:823–827.

    PubMed  CAS  Google Scholar 

  144. Spirio L, Olschwang S, Groden J, et al. 1993. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 75:951–957.

    PubMed  CAS  Google Scholar 

  145. Olschwang S, Tiret A, Laurent-Puig P, Muleris M, Pare R, Thomas G. 1993. Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 75:959–968.

    PubMed  CAS  Google Scholar 

  146. Turcot J, Despres J, St Pierre F. 1959. Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis Colon Rectum 2:465–468.

    PubMed  CAS  Google Scholar 

  147. Mori T, Nagase H, Horii A, et al. 1994. Germ-line and somatic mutations of the APC gene in patients with Turcot syndrome and analysis of APC mutations in brain tumors. Genes Chromosomes Cancer 9:168–172.

    PubMed  CAS  Google Scholar 

  148. Tomlinson G, Chao L, Stastny V, Ater J, Saunders G, Strong L. 1995. Involvement of the APC gene in medulloblastoma in two familial polyposis kindreds. Med Pediatr Oncol 25:255.

    Google Scholar 

  149. Hamilton SR, Liu B, Parsons R, et al. 1995. The molecular basis of Turcot’s syndrome. N Engl J Med 332:839–847.

    PubMed  CAS  Google Scholar 

  150. Sipple J. 1961. The association of pheochromocytoma with carcinoma of the thyroid gland. Am J Med 31:163–166.

    Google Scholar 

  151. Easton DF, Ponder MA, Cummings T, Gagel RF, Hansen HH, Reichlin S, Tashjian AH, Telenius-Berg M, Ponder B. 1989. The clinical and screening age-at-onset distribution for the MEN-2 syndrome. Am J Hum Genet 44:208–215.

    PubMed  CAS  Google Scholar 

  152. Carney J, Sizemore G, Lovestedt S. 1976. Mucosal ganglioneuromatosis, medullary thyroid carcinoma, and pheochromocytoma: multiple endocrine neoplasia, type 2b. Oral Surg Oral Med Pathol 41:739–752.

    CAS  Google Scholar 

  153. Schimke R, Hartmann W, Prout T, Rimoin D. 1968. Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas: a possible regulatory defect in the differentiation of chromaffin tissue. N Engl J Med 279:1–7.

    PubMed  CAS  Google Scholar 

  154. Brown RS, Colle E, Tashjian AH. 1975. The syndrome of multiple mucosal neuromas and medullary thyroid carcinoma in childhood: importance of recognition of the phenotype for the early detection of malignancy. J Pediatr 86:77–83,

    PubMed  Google Scholar 

  155. Farndon JR, Leight GS, Dilley WG, Baylin SB, Smallridge RC, Wells SA. 1986. Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. Br J Surg 73:278–281.

    PubMed  CAS  Google Scholar 

  156. Samaan N, Draznin M, Halpin R, Bloss R, Hawkins E, Lewis R. 1991. Multiple endocrine syndrome type IIb in early childhood. Cancer 68:1832–1834.

    PubMed  CAS  Google Scholar 

  157. Stjernholm MR, Freudenbourg JC, Mooney HS, Kinney FJ, Deftos LJ. 1980. Medullary carcinoma of the thyroid before age 2 years. J Clin Endocrinol Metab 51:252–253.

    PubMed  CAS  Google Scholar 

  158. Telander RL, Zimmerman D, Sizemore GW, van Heerden J A, Grant CS. 1989. Medullary carcinoma in children. Arch Surg 124:841–843.

    PubMed  CAS  Google Scholar 

  159. Lairmore TC, Howe JR, Korte JA, Dilley WG, Aine L, Aine E, Wells SA, Donis-Keller H. 1991. Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia, type 2A. Genomics 9:181–192.

    PubMed  CAS  Google Scholar 

  160. Norum RA, Lafreniere RG, O’Neal LW, et al. 1990. Linkage of the multiple endocrine neoplasia Type 2B gene (MEN2B) to chromosome 10 markers linked to MEN2A. Genomics 8:313–317.

    PubMed  CAS  Google Scholar 

  161. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, Howe JR, Moley JF, Goodfellow P, Wells SA. 1993. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 2:851–856.

    PubMed  CAS  Google Scholar 

  162. Lips CJM, Landsvater RM, Hoppener JWM, et al. 1994. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasis type 2A. N Engl J Med 331:828–834.

    PubMed  CAS  Google Scholar 

  163. Skinner MA, DeBenedetti MK, Moley JF, Norton JA, Wells SA. 1996. Medullary thyroid carcinoma in children with multiple endocrine neoplasia, type 2A and 2B. J Pediatr Sur 31:177–182.

    CAS  Google Scholar 

  164. Mulligan LM, Eng C, Healey CS, et al. 1994. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genet 6:70–74.

    PubMed  CAS  Google Scholar 

  165. Carlson KM, Dou S, Chi D, Scavarda N, Toshima K, Jackson CE, Wells SA, Goodfellow PJ, Donis-Keller H. 1994. Single missense mutation in the tyrosine kinase catalytic domain of RET proto-oncogene is associated with multiple endocrine neoplasia, type 2B. Proc Natl Acad Sci USA 91:1579–1583.

    PubMed  CAS  Google Scholar 

  166. Hofstra RMW, Landsvater RM, Ceccherini I, et al. 1994. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 367:375–376.

    PubMed  CAS  Google Scholar 

  167. Melvin KEW, Miller HH, Tashjian AH. 1971. Early diagnosis of medullary carcinoma of the thyroid gland by means of calcitonin assay. N Engl J Med 285:1115–1120.

    PubMed  CAS  Google Scholar 

  168. Graze K, Spiler IJ, Tashjian AH, et al. 1978. Natural history of familial medullary thyroid carcinoma. N Engl J Med 299:980–985.

    PubMed  CAS  Google Scholar 

  169. Gagel RF, Tashjian AH, Cummings T, Papathanasopoulos N, Kaplan MM, DeLellis RA, Wolfe HJ, Reichlin S. 1988. The clinical outcome of prospective screening for multiple endocrine neoplasia type 2a: an 18-year experience. N Engl J Med 318:478–484.

    PubMed  CAS  Google Scholar 

  170. NIH Consensus Development Conference. 1988. Neurofibromatosis: conference statement. Arch Neurol 45:575–578.

    Google Scholar 

  171. Sorensen SA, Mulvihill JJ, Nielsen A. 1986. Long-term follow-up of von Recklinghausen neurofibromatosis. N Engl J Med 314:1010–1015.

    PubMed  CAS  Google Scholar 

  172. Matsui I, Tanimura M, Kobayashi N, Sawada T, Nagahara N, Akatsuka J-I. 1993. Neurofibromatosis type 1 and childhood cancer. Cancer 72:2746–2754.

    PubMed  CAS  Google Scholar 

  173. Janss AJ, Grundy R, Cnaan A, et al. 1995. Optic pathway and hypothalamic/chiasmatic gliomas in children younger than age 5 years with a 6-year follow-up. Cancer 75:1051–1059.

    PubMed  CAS  Google Scholar 

  174. Hartley AL, Birch JM, Kelsey AM, Harris M, Morris Jones PH. 1990. Sarcomas in three generations of a family with neurofibromatosis. Cancer Genet Cytogenet 45:245–248.

    PubMed  CAS  Google Scholar 

  175. Shannon K, Watterson J, Johnson P, O’Connell P, Lange B, Shah N. 1992. Monosomy 7 myeloproliferative disease in children with neurofibromatosis, type 1: epidemiology and molecular analysis. Blood 79:1311–1318.

    PubMed  CAS  Google Scholar 

  176. Heim RA, Kam-Morgan LNW, Binnie CG, Corns DD, Cayouette MC, Farber RA, Aylsworth AS, Silverman LM, Luce MC. 1995. Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet 4:975–981.

    PubMed  CAS  Google Scholar 

  177. Shen MH, Harper PS, Upadhyaya M. 1996. Molecular genetic of neurofibromatosis type 1 (NF1). J Med Genet 33:2–17.

    PubMed  CAS  Google Scholar 

  178. Hofman KJ, Boehm CD. 1992. Familial neurofibromatosis type 1: clinical experience with DNA testing. J Pediatr 120:394–398.

    PubMed  CAS  Google Scholar 

  179. Evans DGR, Huson SM, Donnai D, Neary W, Blair V, Newton V, Strachan T, Harris R. 1992. A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. J Med Genet 29:847–852.

    PubMed  CAS  Google Scholar 

  180. MacCollin M, Ramesh V, Jacoby LB, et al. 1994. Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet 55:314–320.

    PubMed  CAS  Google Scholar 

  181. Bourn D, Carter SA, Mason S, Evans DGR, Strachan T. 1994. Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. Hum Mol Genet 3:813–816.

    PubMed  CAS  Google Scholar 

  182. Gomez MR. 1979. Tuberous Sclerosis. New York: Raven Press.

    Google Scholar 

  183. Povey S, Burley MW, Attwood J, et at. 1994. Two loci for tuberous sclerosis: one on 9q34 and one on 16pl3. Ann Hum Genet 58:107–127.

    PubMed  CAS  Google Scholar 

  184. Marshall D, Saul GB, Sachs E. 1995. Tuberous sclerosis: a report of 16 cases in two family trees revealing genetic dominance. N Engl J Med 261:1102–1105.

    Google Scholar 

  185. Pascual-Castroviejo I, Patron M, Gutierrez M, Carceller F, Pascual-Pascual SI. 1995. Tuberous sclerosis associated with histologically confirmed ocular and cerebral tumors. Pediatr Neurol 13:172–174.

    PubMed  CAS  Google Scholar 

  186. Boesel CP, Paulson GW, Kosnik EJ, Earle KM. 1979. Brain hamartomas and tumors associated with tuberous sclerosis. Neurosurgery 4:410–417.

    PubMed  CAS  Google Scholar 

  187. Harding CO, Pagon RA. 1990. Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet 37:443–446.

    PubMed  CAS  Google Scholar 

  188. Au KS, Murrell J, Buckler A, Blanton SH, Northrup H. 1996. Report of a critical recombination further narrowing the TSC1 region. J Med Genet 33:559–561.

    PubMed  CAS  Google Scholar 

  189. Fryer AE, Chalmers AH, Osborne JP. 1990. The value of investigation for genetic counselling in tuberous sclerosis. J Med Genet 27:217–223.

    PubMed  CAS  Google Scholar 

  190. Melmon KL, Rosen SW. 1964. Lindau’s disease: review of the literature and study of a large kindred. Am J Med 36:595–617.

    PubMed  CAS  Google Scholar 

  191. Maddock IR, Moran A, Maher ER, et al. 1996. A genetic register for von Hippel-Lindau disease. J Med Genet 33:120–127.

    PubMed  CAS  Google Scholar 

  192. Seizinger BR, Rouleau GA, Ozelius LJ, et al. 1988. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma.

    Google Scholar 

  193. Crossey PA, Richards FM, Foster K, et al. 1994. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet 3:1303–1308.

    PubMed  CAS  Google Scholar 

  194. Zbar B, Kishida T, Chen F, et al. 1996. Germline mutations in the von Hippel-Lindau Disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat 8:348–357.

    PubMed  CAS  Google Scholar 

  195. Wertz D, Fanos J, Reilly R. 1994. Genetic testing for children and adolescents. JAMA 272:875–881.

    PubMed  CAS  Google Scholar 

  196. American Society of Human Genetics Board of Directors and The American College of Medical Genetics Board of Directors. 1995. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 57:1233–1241.

    Google Scholar 

  197. American Society of Clinical Oncology. 1996. Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility. J Clin Oncol 14:1730–1736.

    Google Scholar 

  198. Patenaude AF, Basili L, Fairclough DL, Li FP. 1996. Attitudes of 47 mothers of pediatric oncology patients towards genetic testing for cancer predisposition. J Clin Oncol 14:415–423.

    PubMed  CAS  Google Scholar 

  199. Schneider K, Patenaude A, Garber J. 1995. Testing for cancer genes; decisions, decisions. Nature Med 1:302–303.

    PubMed  CAS  Google Scholar 

  200. American Society of Clinical Oncology, 1997. Resource document for curriculum development in cancer genetics education. J Clin Oncol. 15:2157–2169

    Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1997 Springer Science+Business Media New York

About this chapter

Cite this chapter

Tomlinson, G.E. (1997). Familial cancer syndromes and genetic counseling. In: Walterhouse, D.O., Cohn, S.L. (eds) Diagnostic and Therapeutic Advances in Pediatric Oncology. Cancer Treatment and Research, vol 92. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5767-8_3

Download citation

  • DOI: https://doi.org/10.1007/978-1-4615-5767-8_3

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-7643-9

  • Online ISBN: 978-1-4615-5767-8

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics