Hereditary cancer and developmental abnormalities

Biology of the Neonate

Volumn 77, Issue 1, 2000, Pages 1-11

  Ben Yosef, Tamar ^a   Benvenisty, Nissim ^b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b HEBREW UNIVERSITY OF JERUSALEM   (Israel)

Author keywords

Development; Embryogenesis; Hereditary cancer; Tumor suppressor genes

Indexed keywords

CANCER SUSCEPTIBILITY; CELL DIFFERENTIATION; CELL PROLIFERATION; DEVELOPMENTAL DISORDER; EMBRYO DEVELOPMENT; FAMILIAL CANCER; GENE MUTATION; HETEROZYGOSITY LOSS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; PROGENY; REVIEW; TUMOR SUPPRESSOR GENE;

EID: 0033992067     PISSN: 00063126     EISSN: None     Source Type: Journal    
DOI: 10.1159/000014188     Document Type: Review

References (90)

1. Bishop JM: The molecular genetics of cancer. Science 1987;235:305-311.
2. Varmus H, Weinberg RA: Genes and the Biology of Cancer. New York. Scientific American Library, 1993, pp 67-184.
3. Fearon ER: Human cancer syndromes: Clues to the original and nature of cancer. Science 1997;278:1043-1050.
4. Knudson AG J: Retinoblastoma: A prototypic hereditary neoplasm. Semin Oncol 1978;5:57-60.
5. Giedion A, Holthusen W, Masel LF, Vischer D: Subacute and chronic 'symmetrical' osteomyelitis. Ann Radiol (Paris) 1972;15:329-342.
6. Gruis N, van der Velden P, Sandkuijl L, Prins D, Weaver-Feldhaus J, Kamb A, Bergman W, Frants R: Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nat Genet 1995;10:351-353.
7. Hackman P, Tannergard P, Osei-Mensa S, Chen J, Kane MF, Kolodner R, Lambert B, Hellgren D, Lindblom A: A human compound heterozygote for two MLH1 missense mutations. Nat Genet 1997;17:135-136.
8. Ricciardone MD, Ozçelik T, Cevher B, Ozdag H, Tuncer M, Gürgcy A, Uzunalimoglu O, Cetinkaya H, Tanyeli A, Erken E, Oztürk M: Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res 1999;59:290-293.
9. Boyd M, Harris F, McFarlane R, Davidson H, Black D: A human BRCA1 gene knockout. Nature 1995;375:541-542.
10. Gowen LC, Johnson BL, Latour AM, Sulik KK, Koller BH: Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities. Nat Genet 1996;12: 191-194.
11. Hakem R, de la Pompa J, Sirard C, Mo R, Woo M, Hakem A, Wakeham A, Potter J, Reitmair A, Billia F, Firpo E, Hui C, Roberts J, Rossant J, Mak T: The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Cell 1996;85:1009-1023.
12. Liu C, Flesken-Nikitin A, Li S, Zeng Y, Lee W: Inactivation of the mouse Brca1 gene leads to failure in the morphogenesis of the egg cylinder in early postimplantation development. Genes Dev 1996;10:1835-1843.
13. Ludwig T, Chapman D, Papaioannou V, Efstratiadis A: Targeted mutations of breast cancer susceptibility gene homologs in mice: Lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos. Genes Dev 1997;11:1226-1241.
14. Chester N, Kuo F, Kozak C, O'Hara CD, Leder P: Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene. Genes Dev 1998;12: 3382-3393.
15. Kinzler K, Vogelstein B: Lessons from hereditary colorectal cancer. Cell 1996;87:159-170.
16. Mallory SB: Cowden syndrome (multiple hamartoma syndrome). Dermatol Clin 1995;13: 27-31.
17. Liaw D, Marsh DJ, Li J, Dahia PL, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C, Parsons R: Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997;16:64-67.
18. Brownstein MH, Wolf M, Bikowski JB: Cowden's disease: A cutaneous marker of breast cancer. Cancer 1978;41:2393-2398.
19. Gorlin RJ, Cohen MM Jr, Condon LM, Burke BA: Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 1992;44:307-314.
20. Marsh DJ, Dahia PL, Zheng Z, Liaw D, Parsons R, Gorlin RJ, Eng C: Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet 1997;16:333-334.
21. Kinzler KW, Vogelstein B: Cancer susceptibility genes: Gatekeepers and caretakers. Nature 1997;386:761-763.
22. Mueller RF: The Denys-Drash syndrome. J Med Genet 1994;31:471-477.
23. Petruzzi MJ, Green DM: Wilms' tumor. Pediatr Clin North Am 1997;44:939-952.
24. Pelletier J, Bruening W, Li F, Haber D, Glaser T, Housman D: WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour. Nature 1991;353: 431-434.
25. Pelletier J, Bruening W, Kashtan C, Mauer S, Manivel J, Striegel J, Houghton D, Junien C, Habib R, Fouser L, Fine RN, Silverman BL, Haber DA, Housman D: Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 1991;67:437-447.
26. Kreidberg J, Sariola H, Loring J, Maeda M, Pelletier J, Housman D, Jacnisch R: WT-1 is required for early kidney development. Cell 1993;74:679-691.
27. Brannan C, Perkins A, Vogel K, Ratner N, Nordlund M, Reid S, Buchberg A, Jenkins N, Parada L, Copeland N: Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev 1994;8:1019-1029.
28. Wicklund CL, Pauli RM, Johnston D, Hecht JT: Natural history study of hereditary multiple exostoses. Am J Med Genet 1995;55:43-46.
29. Stickens D, Evans GA: A sugar fix for bone tumours? Nat Genet 1998;19:110-111.
30. Gorlin RJ: Nevoid basal cell carcinoma syndrome. Dermatol Clin 1995;13:113-125.
31. Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Linden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffel DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE: Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996;85:841-851.
32. Barlow C, Hirotsune S, Paylor R, Liyanage M, Eckhaus M, Collins F, Shiloh Y, Crawley J, Ried T, Tagle D, Wynshaw-Boris A: Atm-deficient mice: A paradigm of ataxia telangiectasia. Cell 1996;86:159-171.
33. Elson A, Wang Y, Daugherty C, Morion C, Zhou F, Campos-Torres J, Leder P: Pleiotropic defects in ataxia-telangiectasia protein-defi-cient mice. Proc Natl Acad Sci USA 1996;93: 13084-13089.
34. Xu Y, Ashley T, Brainerd E, Bronson R, Meyn M, Baltimore D: Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma. Genes Dev 1996;10: 2411-2422.
35. Fodde R, Edelmann W, Yang K, van Leeuwen C, Carlson C, Renault B, Breukel C, Alt E, Lipkin M, Khan P, Kucherlapati R: A targeted chain-termination mutation in the mouse Apc gene results in multiple intestinal tumors. Proc Natl Acad Sci USA 1994;91:8969-8973.
36. Oshima M, Oshima H, Kitagawa K, Kobayashi M, Itakura C, Taketo M: Loss of Apc heterozygosity and abnormal tissue building in nascent intestinal polyps in mice carrying a truncated Apc gene. Pro Natl Acad Sci USA 1995;92: 4482-4486.
37. Reitmair AH, Schmits R, Ewel A, Bapat B. Redston M, Mitri A, Waterhouse P, Mittrucker HW, Wakeham A, Liu B. Thomason, A, Grisser H, Gallinger S, Ballhausen WG, Fishel R, Mak TW: MSH2 deficient mice are viable and susceptible to lymphoid tumours. Nat Genet 1995;11:64-70.
38. Reitmair A, Redston M, Cai J, Chuang T, Bjerknes M, Cheng H, Hay K, Gallinger S, Bapat B, Mak T: Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice. Cancer Res 1996;56:3842-3849.
39. Prolla TA, Baker SM, Harris AC, Tsao JL, Yao X, Bronner CE, Zheng B, Gordon M, Reneker J, Arnheim N, Shibata D, Bradley A, Liskay RM: Tumour susceptibility and spontaneous mutation in mice deficient in M1h1, Pms1 and Pms2 DNA mismatch repair. Nat Genet 1998: 18:276-279.
40. Goodrich LV, Milenkovic L, Higgins KM. Scott MP: Altered neural cell fates and medulloblastoma in mouse patched mutants. Science 1997;277:1109-1113.
41. Gnarra JR, Ward JM, Porter FD, Wagner JR. Devor DE, Grinberg A, Emmert-Buck MR. Westphal H, Klausner RD, Linehan WM: Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice. Proc Natl Acad Sci USA 1997;94:9102-9107.
42. Xu X, Wagner K-U, Larson D, Weaver Z, Li C, Ried T, Hennighausen L, Wynshaw-Boris A, Deng C-X: Conditional mutation of Brca1 in mammary epithelial cells results in blunted ductal morphogenesis and tumour formation. Nat Genet 1999;22:37-43.
43. Jacks T, Shin TS, Schmitt EM, Bronson RT, Bernards A, Weinberg RA: Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat Genet 1994;7:353-361.
44. Cichowski K, Shih T, Jacks T: Nf1 gene targeting: Toward models and mechanisms. Semin Cancer Biol 1996;7:291-298.
45. Williams B, Schmitt E, Remington L, Bronson R, Albert D, Weinberg R, Jacks T: Extensive contribution of Rb-deficient cells to adult chimeric mice with limited histopathological consequences. EMBOJ 1994;13:4251-4259.
46. Wolf J, Jarvinen HJ, Hietanen J: Gardner's dento-maxillary stigmas in patients with familial adenomatosis coli. Br J Oral Maxillofac Surg 1986;24:410-416.
47. Carl W, Herrera L: Dental and bone abnormalities in patients with familial polyposis coli. Semin Surg Oncol 1987:3:77-83.
48. Smits R, van der Houven van Oordt W, Luz A, Zurcher C, Jagmohan-Changur S, Breukel C, Khan PM, Fodde R: Apc 1638N: A mouse model for familial adenoniatous polyposis-associated desmoid tumors and cutaneous cysts. Gastroenterology 1998;114:275-283.
49. Strucwing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, Timmermann MM, Brody LC, Tucker MA: The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997;336:1401-1408.
50. Whittemore AS, Gong G, Intyre J: Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: Results from three U.S. population-based case-control studies of ovarian cancer. Am J Hum Genet 1997; 60:496-504.
51. Diamond TM, Sutphen R, Tabano M, Fiorica J: Inherited susceptibility to breast and ovarian cancer. Curr Opin Obstet Gynecol 1998;10: 3-8.
52. Friedman L, Thistlethwaite F, Patel K, Yu V, Lee H, Venkitaraman A, Abel K, Carlton M, Hunter S, Colledge W, Evans M, Ponder B: Thymic lymphomas in mice with a truncating mutation in Brca2. Cancer Res 1998;58:1338-1343.
53. Sharan SK, Morimatsu M, Albrecht U, Lim DS, Regel E, Dinh C, Sands A, Eichele G, Hasty P, Bradley A: Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2. Nature 1997;386:804-810.
54. Suzuki A, de la Pompa J, Hakem R, Elia A, Yoshida R. Mo R. Nishina H, Chuang T, Wakeham A, Itie A, Koo W, Billia P, Ho A, Fukumoto M, Hui C, Mak T: Brca2 is required for embryonic cellular proliferation in the mouse. Genes Dev 1997;11:1242-1252.
55. Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G. Warren W, Aminoff M, Hoglund P, Jarvinen H, Kristo P, Pelin K, Ridanpaa M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A. Aaltonen LA: A serine/ threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 1998;391:184-187.
56. Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R. Muller O. Back W, Zimmer M: Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 1998;18:38-43.
57. Baker S, Plug A, Prolla T, Bronner C, Harris A, Yao X, Christie D, Monell C, Arnheim N, Bradley A, Ashley T, Liskay R: Involvement of mouse M1h1 in DNA mismatch repair and meiotic crossing over. Nat Genet 1996;13:336-342.
58. Baker SM, Bronner CE, Zhang L, Plug AW, Robatzek M. Warren G, Elliott EA, Yu J, Ashley T, Arnheim N, Flavell RA, Liskay RM: Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell 1995;82:309-319.
59. Roos KL, Muckway M: Neurofibromatosis. Dermatol Clin 1995;13:105-111.
60. Crawford AH: Pitfalls of spinal deformities associated with neurofibromatosis in children. Clin Orthop 1989;245:29-42.
61. Silva AJ, Frankland PW, Marowitz Z, Friedman E, Lazlo G, Cioffi D, Jacks T, Bourtchuladze R: A mouse model for the learning and memory deficits associated with neurofibromatosis type I. Nat Genet 1997;15:281-284.
62. McClatchey AI, Saotome I, Mercer K, Crowley D, Gusella JF, Bronson RT, Jacks T: Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. Genes Dev 1998;12:1121-1133.
63. McClatchey A, Saotome I, Ramesh V, Gusella J, Jacks T: The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. Genes Dev 1997;11:1253-1265.
64. Lynch HT, Fusaro RM, Danes BS, Kimberling WJ, Lynch JF: A review of hereditary malignant melanoma including biomarkers in familial atypical multiple mole melanoma syndrome. Cancer Genet Cytogenet 1983;8:325-358.
65. Serrano M, Lee H, Chin L, Cordon-Cardo C, Beach D, DePinho RA: Role of the INK4a locus in tumor suppression and cell mortality. Cell 1996;85:27-37.
66. Evans SC, Lozano G: The Li-Fraumeni syndrome: An inherited susceptibility to cancer. Mol Med Today 1997;3:390-395.
67. Donehower L, Harvey M, Slagle B, McArthur M, Montgomery CAJ, Butel J, Bradley A: Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours. Nature 1992;356:215-221.
68. Sah V, Attardi L, Mulligan G, Williams B, Bronson R, Jacks T: A subset of p53-deficient embryos exhibit exencephaly. Nat Genet 1995; 10:175-180.
69. Ohyama K, Chung CH, Chen E, Gibson CW, Misof K. Fratzl P, Shapiro IM: p53 influences mice skeletal development. J Craniofac Genet Dev Biol 1997;17:161-171.
70. Di Cristofano A, Pesce B, Cordon-Cardo C, Pandolfi PP: Pten is essential for embryonic development and tumour suppression. Nat Genet 1998;19:348-355.
71. Abramson DH, Ellsworth RM, Kitchin FD, Tung G: Second monocular tumors in retinoblastoma survivors: Are they radiation-induced? Ophthalmology 1984;91:1351-1355.
72. Bonaitti-Pellie C, Briard-Guillemot M, Feingold J, Frezal J: Associated congenital malformations in retinoblastoma. Clin Genet 1975;7: 37-39.
73. Jacks T, Fazeli A, Schmitt E, Bronson R, Goodell M, Weinberg R: Effects of an Rb mutation in the mouse. Nature 1992;359:295-300.
74. Lee E, Chang C, Hu N, Wang Y, Lai C, Herrup K, Lee W, Bradley A: Mice deficient for Rb are nonviable and show defects in neurogenesis and haematopoiesis. Nature 1992;359:288-294.
75. Howe JR, Roth S, Ringold JC, Summers RW, Jarvinen HJ, Sistonen P, Tomlinson IP, Houlston RS, Bevan S, Mitros FA, Stone EM, Aaltonen LA: Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998;280: 1086-1088.
76. Yang X, Li C, Xu X, Deng C: The tumor suppressor SMAD4/PDC4 is essential for epiblast proliferation and mesoderm induction in mice. Proc Natl Acad Sci USA 1998;95:3667-3672.
77. Roach ES, Delgado MR: Tuberous sclerosis. Dermatol Clin 1995;13:151-161.
78. Hino O, Klein-Szanto AJ, Freed JJ, Testa JR, Brown DQ, Vilensky M, Yeung RS, Tartof KD, Knudson AG: Spontaneous and radiation-induced renal tumors in the Eker rat model of dominantly inherited cancer. Proc Natl Acad Sci USA 1993;90:327-331.
79. Kobayashi T. Hirayama Y, Kobayashi E, Kubo Y, Hino O: A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer. Nat Genet 1995;9:70-74.
80. Maher ER, Kaelin WG Jr: Von Hippel-Lindau disease. Medicine (Baltimore) 1997;76:381-391.
81. Gatti RA: Ataxia-telangicetasia. Dermatol Clin 1995;13:1-6.
82. Lavin M: Role of the ataxia-telangiectasia gene (ATM) in breast cancer: A-T heterozygotes seem to have an increased risk but its size is unknown. BMJ 1998;317:486-487.
83. Welshimer K, Swift M: Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families. Am J Hum Genet 1982; 34:781-793.
84. German J: Bloom's syndrome. Dermatol Clin 1995;13:7-18.
85. Auerbach AD: Fanconi anemia. Dermatol Clin 1995;13:41-49.
86. Chen M, Tomkins D, Auerbach W, McKerlic C. Youssoufian H, Liu L, Gan O, Carreau M, Auerbach A, Groves T, Guidos C, Freedman M, Cross J, Percy D. Dick J, Joyner A, Buchwald M: Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. Nat Genet 1996;12:448-451.
87. Whitney M, Royle G, Low M, Kelly M, Axthelm M, Reifsteck O, Olson S, Braun R, Heinrich M, Rathbun R, Bagby G, Grompe M: Germ cell detects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Blood 1996;88:49-58.
88. Lambert WC, Kuo HR, Lambert MW: Xeroderma pigmentosum. Dermatol Clin 1995;13: 169-209.
89. de Vries A, van Oostrom C, Hofhuis F, Dortant P, Berg R, de Gruijl F, Wester P, van Kreijl C, Capel P, van Steeg H, Verbeck SJ: Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA. Nature 1995;377:169-173.
90. Nakane H, Takcuchi S, Yuba S, Saijo M, Nakatsu Y, Murai H, Nakatsuru Y, Ishikawa T, Hirota S, Kitamura Y, Kato Y, Tsunoda Y, Miyauchi H, Horio T, Tokunaga T, Matsunaga T, Nikaido O, Nishimune Y, Okada Y, Tanaka K: High incidence of ultraviolet-B-or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene. Nature 1995;377:165-168.