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Screening for cancer in high-risk families

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Advances in Cancer Screening

Part of the book series: Cancer Treatment and Research ((CTAR,volume 86))

Abstract

There has been much recent progress in our understanding of the genetic basis of cancer. Although the majority of cases of cancer do not appear to be hereditary, several genetic syndromes have been identified that are characterized by an increased familial risk of cancer. The predisposing genes for many of these syndromes have now been identified as well.

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References

  1. Narod SA, Stiller C, Lenoir GM. 1991. An estimate of the hereditary fraction of childhood cancer. Br J Cancer 6:993–999.

    Article  Google Scholar 

  2. Weiss AH, Karr DJ, Kalina RE, Lindsley KL, Pendergrass TW. 1994. Visual outcomes of macular retinoblastoma after external beam radiation therapy. Ophthalmology 101:1244–1249.

    PubMed  CAS  Google Scholar 

  3. Wagner J, Portwine C, Rabin K, Leclerc J-M, Narod SA, Malkin D. 1995. A high frequency of germline p53 mutations in childhood adrenocortical cancer. J Natl Cancer Inst 86:1707–1710.

    Google Scholar 

  4. Saad RK, Ordonez NG, Rashid RK, et al. 1984. Medullary carcinoma of the thyroid. A study of the clinical features and prognostic factors in 161 patients. Medicine 63:319–342.

    Article  PubMed  CAS  Google Scholar 

  5. Neumann HPH, Berger DP, Sigmund G, et al. 1993. Pheochromocytomas, multiple endocrine neoplasia type 2 and Von Hippel-Lindau disease. N Engl J Med 329:1531–1538.

    Article  PubMed  CAS  Google Scholar 

  6. Narod SA, Madlensky L, Bradley L, et al. 1994. Hereditary and familial ovarian cancer in Southern Ontario. Cancer 74:2341–2346.

    Article  PubMed  CAS  Google Scholar 

  7. Takahashi H, Behbakht K, McGovern PE, et al. 1995. Mutation analysis of the BRCA1 gene in ovarian cancers. Cancer Res 55:2998–3002.

    PubMed  CAS  Google Scholar 

  8. Lynch HT, Lynch JF. 1986. Breast cancer in an oncology clinic: 328 consecutive patients. Cancer Genet Cytogenet 23:369.

    Article  Google Scholar 

  9. Fuchs CS, Giovannucci EL, Colditz GA, Hunter DJ, Speizer FE, Willett WC. 1994. A prospective study of family history and the risk of colorectal cancer. N Engl J Med 331:1669–1674.

    Article  PubMed  CAS  Google Scholar 

  10. Hartley AL, Birch JM, Marsden HB, et al. 1987. Adrenal cortical tumors: epidemiological and familial aspects. Arch Dis Child 62:683–689.

    Article  PubMed  CAS  Google Scholar 

  11. Claus EB, Risch N, Thompson WD. 1990. Age of onset as an indicator of familial risk of breast cancer. Am J Epidemiol 131:961–972.

    PubMed  CAS  Google Scholar 

  12. Garber JE, Goldstein AM, Kantor AF, Dreyfus MG, Fraumeni JF, Li FP. 1991. Follow up study of twenty-four families with the Li-Fraumeni syndrome. Cancer Res 51:6094–6097.

    PubMed  CAS  Google Scholar 

  13. Watson P, Lynch HT. 1993. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71:677–685.

    Article  PubMed  CAS  Google Scholar 

  14. Amos CI, Shaw GL, Tucker MA, Hartge P. 1992. Age at onset for familial epithelial ovarian cancer. JAMA 268:1896–1899.

    Article  PubMed  CAS  Google Scholar 

  15. Marcus JN, Watson P, Page DL, et al. 1996. Hereditary breast cancer: pathobiology, prognosis and BRCA1 and BRCA2 linkage. Cancer 77:697–709.

    Article  PubMed  CAS  Google Scholar 

  16. Narod SA, Tonin P, Lynch H, et al. 1994. Histology of BRCA1-associated ovarian tumours. Lancet 343:236.

    Article  PubMed  CAS  Google Scholar 

  17. Dupont WD, Page DL. 1987. Breast cancer risk associated with proliferative disease, age at first birth and a family history of breast cancer. Am J Epidemiol 125:769–779.

    PubMed  CAS  Google Scholar 

  18. Salem OS, Steck WD. 1983. Cowden’s disease (multiple hamartoma and neoplasia syndrome). Case report and review of the English literature. J Am Acad Dermatol 8:686–696.

    Article  PubMed  CAS  Google Scholar 

  19. Powell SM, Petersen GM, Krush AJ, et al. 1993. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 329:1982–1987.

    Article  PubMed  CAS  Google Scholar 

  20. Narod SA, Ford D, Devilee P, et al. 1995. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Am J Hum Genet 56:254–264.

    PubMed  CAS  Google Scholar 

  21. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. 1994. The risks of cancer in BRCA1 mutation carriers. Lancet 343:692–695.

    Article  PubMed  CAS  Google Scholar 

  22. Wooster R, Bignell G, Lancaster J, et al. 1996. Identification of the breast cancer susceptibility gene BRCA2. Nature 378:783–792.

    Google Scholar 

  23. Wooster R, Neuhausen S, Mangion J, et al. 1994. Localisation of a breast cancer susceptibility gene (BRCA2) to chromosome 13q by genetic linkage analysis. Science 265:2088–2090.

    Article  PubMed  CAS  Google Scholar 

  24. Serova O, Narod SA, Tonin P, et al. 1996. A high incidence of BRCA1 mutations in 20 breast-ovarian families. Am J Hum Genet.

    Google Scholar 

  25. Tonin P, Serova O. Lenoir G, et al. 1995. BRCA1 mutations in Ashkenazi Jewish women. Am J Hum Genet 57:189.

    PubMed  CAS  Google Scholar 

  26. Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FS, Brody LC. 1995. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 per cent in Ashkenazi Jewish individuals. Nature Genet 11:198–200.

    Article  PubMed  CAS  Google Scholar 

  27. Campbell WJ, Spence RAJ, Parks TG. 1994. Familial adenomatous polyposis. Br J Surg 81:1722–33.

    Article  PubMed  CAS  Google Scholar 

  28. Desai DC, Neale KF, Talbot IC, Hodgson SV, Phillips RKS. 1995. Juvenile polyposis. Br J Surg 82:14–17.

    Article  PubMed  CAS  Google Scholar 

  29. Giardello FM, Welsh SB, Hamilton SR, et al. 1987. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 316:1511–1514.

    Article  Google Scholar 

  30. Lynch HT, Smyrk TC, Watson P, et al. 1993. Genetics, natural history, tumor spectrum and pathology of hereditary non-polyposis colorectal cancer: an updated review. Gastroenterology 104:1535–1539.

    PubMed  CAS  Google Scholar 

  31. Jass JR, Stewart SM, Stewart J, Lane MR. 1994. Hereditary non-polyposis colorectal cancer — morphologies, genes and mutations. Mutation Res 310:125–133.

    PubMed  CAS  Google Scholar 

  32. Albano WA, Recarbaren J A, Lynch HT, et al. 1982. Natural history of hereditary cancer of the breast and colon. Cancer 50:360–363.

    Article  PubMed  CAS  Google Scholar 

  33. Bussey HJR. 1975. Familial Polyposis Coli: Family Studies, Histopathology, Differential Diagnosis and Results of Treatment. Baltimore: Johns Hopkins University Press.

    Google Scholar 

  34. Parkin DM, Muir CS, Whelan SL, Gao Y-T, Ferlay J, Powell J. 1992. Cancer Incidence in Five Continents, vol. VI (IARC scientific publication No. 120). Lyon: International Agency for Research on Cancer.

    Google Scholar 

  35. Lothe RA, Peltomaki P, Meling GI, et al. 1993. Genomic instability in colorectal cancer: relationship to clinicopathological variables. Cancer Res 53:5849–5852.

    PubMed  CAS  Google Scholar 

  36. Lui B, Farrington SM, Peterson GM, et al. 1995. Genetic instability occurs in the majority of young patients with colorectal cancer. Nature Med 1:348–352.

    Article  Google Scholar 

  37. Aaltonen LA, Peltomaki P, Mecklin J-P, et al. 1994. Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res 54:1645–1648.

    PubMed  CAS  Google Scholar 

  38. Marra G, Boland CR. 1995. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J Natl Cancer Inst 87:1114–1125.

    Article  PubMed  CAS  Google Scholar 

  39. Han H-Y, Maruyama M, Baba S, Park J-G, Nakamura Y. 1995. Genomic structure of mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary nonpolyposis colorectal cancer (HNPCC). Hum Mol Genet 4:237–242.

    Article  PubMed  CAS  Google Scholar 

  40. Upadhyaya M, Shaw DJ, Harper PS. 1994. Molecular basis of neurofibromatosis type 1: mutation analysis and polymorphisms in the NF1 gene. Hum Mutat 4:83–101.

    Article  PubMed  CAS  Google Scholar 

  41. Ruttledge MH, Narod SA, Dumanski JP, et al. 1993. Pre-symptomatic diagnosis for neurofibromatosis type 2 employing a combination of chromosome 22 markers. Neurology 43:1753–1760.

    PubMed  CAS  Google Scholar 

  42. van Heyningen V. 1994. One gene — four syndromes. Nature 367:319–320.

    Article  PubMed  Google Scholar 

  43. Mulligan LM, Eng C, Healey CS, et al. 1994. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN2A and FMTC. Nature Genet 6:70–74.

    Article  PubMed  CAS  Google Scholar 

  44. Eng C, Mulligan LM. Smith DP, et al. 1995. Mutation of the RET protooncogene in sporadic medullary thyroid cancer. Genes Chromosom Cancer 12:209–212.

    Article  PubMed  CAS  Google Scholar 

  45. Linehan WM, Lerman MI, Zbar B. 1995. Identification of the von Hippel Lindau (VHL) gene: its role in renal cancer. JAMA 273:564–570.

    Article  PubMed  CAS  Google Scholar 

  46. Chen F, Kishida T, Yao M, et al. 1995. Germ-line mutations in the von-Hippel Lindau disease tumour suppressor gene: correlation with phenotype. Hum Mutat 5:66–75.

    Article  PubMed  CAS  Google Scholar 

  47. Gagel RF, Tashjian AH, Cummings T, et al. 1988. The clinical outcome of prospective screening for multiple endocrine neoplasia type 2a. N Engl J Med 318:478–484.

    Article  PubMed  CAS  Google Scholar 

  48. Early Breast Cancer Trialists Group. 1992. Systemic therapy of early breast cancer by hormonal, cytotoxic or immune therapy. Lancet 339:1–15,71–85.

    Google Scholar 

  49. Powles TJ, Hickish T. Tamoxifen therapy and carcinogenic risk. 1995. J Natl Cancer Inst 87:1343–1345.

    Article  PubMed  CAS  Google Scholar 

  50. Temple WJ, Lindsay RL, Magi E, Urbanski SJ. 1991. Technical considerations for prophylactic mastectomy in patients at high risk for breast cancer. Am J Surg 161:413–415.

    Article  PubMed  CAS  Google Scholar 

  51. Ziegler LD, Kroll SS. 1991. Primary breast cancer after prophylactic mastectomy. Am J Clin Oncol 14:451–454.

    PubMed  CAS  Google Scholar 

  52. Pennisi VR, Capozzi A. 1989. Subcutaneous mastectomy data: a final statistical analysis of 1500 patients. Aesth Plast Surg 13:15–21.

    Article  CAS  Google Scholar 

  53. Campbell S, Bhan V, Royston P, Whitehead MI, Collins WP. 1989. Transabdominal ultrasound screening for early ovarian cancer. Br Med J 299:1363–1367.

    Article  CAS  Google Scholar 

  54. Kurjak A, Zalud I. 1992. Transvaginal colour flow Doppler in the differentiation of benign and malignant ovarian masses. In Sharp F, Mason WP, Creasman W (eds.), Ovarian Cancer 2: Biology, Diagnosis and Management. London: Chapman and Hall, pp. 249–264.

    Google Scholar 

  55. Cuckle HS, Wald NJ. 1990. The evaluation of screening tests for ovarian cancer. In Sharp F, Mason WP, Leake RE (eds.), Ovarian Cancer: Biological and Therapeutic Challenges. London: Chapman and Hall, pp. 229–239.

    Google Scholar 

  56. Jacobs I, Prys-Davies A, Bridges J, et al. 1993. Prevalence screening for ovarian cancer in postmenopausal women by CA125 measurement and ultrasonography. Br Med J 306:1030–1034.

    Article  CAS  Google Scholar 

  57. Bourne TH, Campbell S, Reynolds KM, et al. 1993. Screening for early familial ovarian cancer with transvaginal ultrasound and colour flow imaging. Br Med J 306:1025–1029.

    Article  CAS  Google Scholar 

  58. Weiner Z, Beck D, Shteiner M, et al. 1993. Screening for ovarian cancer in women with breast cancer and transvaginal sonography and color flow imaging. J Ultrasound Med 12:387–393.

    PubMed  CAS  Google Scholar 

  59. Muto MG, Cramer DW, Brown DL, et al. 1993. Screening for ovarian cancer: the preliminary experience of a familial ovarian cancer center. Gynecol Oncol 51:12–20.

    Article  PubMed  CAS  Google Scholar 

  60. Woolas RP, Xu F-J, Jacobs IJ, et al. 1993. Elevation of multiple serum markers in patients with stage 1 ovarian cancer. J Natl Cancer Inst 85:1748–1751.

    Article  PubMed  CAS  Google Scholar 

  61. Kerlikowske K, Brown JS, Grady DG. 1992. Should women with familial ovarian cancer undergo prophylactic oophoretomy? Obstet Gynecol 80:700–707.

    PubMed  CAS  Google Scholar 

  62. Lynch HT, Severin MJ, Mooney MJ, Lynch J. 1995. Insurance adjudication favoring prophylactic surgery in hereditary breast-ovarian cancer syndrome. Gynecol Oncol 57:23–26.

    Article  PubMed  CAS  Google Scholar 

  63. Tobacman JK, Tucker MA, Kase R, Greene M, Costa J, Fraumeni JF. 1982. Intra-abdominal carcinomatosis after prophylactic oophorectomy in ovarian cancer prone families. Lancet 2:795–797.

    Article  PubMed  CAS  Google Scholar 

  64. Piver MS, Jishi MF, Tsukada Y, Nava G. 1993. Primary peritoneal carcinoma after prophylactic oophorectomy in women with a family history of cancer. Cancer 71:2751–2755.

    Article  PubMed  CAS  Google Scholar 

  65. Burn J, Chapman P, Delhanty J, et al. 1991. The UK Northern Region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium and DNA markers in risk calculations. J Med Genet 28:289–296.

    Article  PubMed  CAS  Google Scholar 

  66. Jagelman DG. 1987. Extracolonic manifestations of familial polyposis coli. Semin Surg Oncol 3:88–91.

    Article  PubMed  CAS  Google Scholar 

  67. Nugent KP, Spigelman AD, Williams CB, Talbot IC, Phillips RKS. 1994. Surveillance of duodenal polyps in familial adenomatous polyposis: progress report. J R Soc Med 87:704–706.

    PubMed  CAS  Google Scholar 

  68. Coyle T. 1995. Gastrointestinal polyposis and nonpolyposis syndromes. N Engl J Med 332:1518–1519.

    Article  PubMed  CAS  Google Scholar 

  69. Winawer SJ, Zauber AG, Ho MN, et al. 1993. Prevention of colorectal cancer by colonosocopic polypectomy. N Engl J Med 329:1977–1981.

    Article  PubMed  CAS  Google Scholar 

  70. Vasen HFA, Nagengast FM, Meera Khan P. 1995. Interval cancers in hereditary nonpolyposis colorectal cancer (Lynch syndrome). Lancet 345:1184–1185.

    Article  Google Scholar 

  71. Watson P, Vasen HFA, Mecklin JP, Jarvinen H, Lynch HT. 1994. The risk of endometrial cancer in hereditary nonpolyposis colorectal cancer. Am J Med 94:516–520.

    Article  Google Scholar 

  72. Vasen HFA, Den Hartog Jager FCA, Menko FH. 1989. Screening for hereditary nonpolyposis colorectal cancer: a study of 22 kindreds in the Netherlands. Am J Med 86:278–281.

    Article  PubMed  CAS  Google Scholar 

  73. Carter BS, Steinberg GD, Beaty TH, Childs B, Walsh PC. 1991. Familial risk factors for prostate cancer. Cancer Surv 11:5–13.

    PubMed  CAS  Google Scholar 

  74. Narod SA, Dupont A, Cusan L, et al. 1995. The impact of family history on early detection of prostate cancer. Nature Med 1:99–101.

    Article  PubMed  CAS  Google Scholar 

  75. Cannon L, Bishop DT, Skolnik, Hunt S, Lyon JL, Smart CR. 1982. Genetic epidemiology of prostate cancer in the Utah Mormon genealogy. Cancer Surv 1:47–69.

    Google Scholar 

  76. O’Riordain DS, O’Brien T, Weaver AL, et al. 1994. Medullary thyroid carcinoma in multiple endocrine neoplasia types 2A and 2B. Surgery 115:1017–1023.

    Google Scholar 

  77. Wells SA Jr, Chi DD, Toshima K, et al. 1994. Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Ann Surg 220:237–247.

    Article  PubMed  Google Scholar 

  78. Stael APM, Plukker JThM, Piers DA, Rouwe CW, Vermey A. 1995. Total thyroidectomy in the treatment of thyroid carcinoma in childhood. Br J Surg 82:1083–1085.

    Article  PubMed  CAS  Google Scholar 

  79. Green JS. 1995. Ph.D. dissertation, Memorial University, Newfoundland, Canada.

    Google Scholar 

  80. Richard S, Biegelman Duclos J-M, et al. 1994. Phaeochromocytoma as the first manifestation of von Hippel-Lindau disease. Surgery 116:1076–1081.

    PubMed  CAS  Google Scholar 

  81. Filling-Katz MR, Choyke P, Patronas N, et al. 1991. Central nervous system involvement in von-Hippel Lindau disease. Neurology 41:41–46.

    PubMed  CAS  Google Scholar 

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Authors
  1. William D. Foulkes
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  2. Steven A. Narod
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Editors and Affiliations

  1. University of Toronto, Canada

    Anthony B. Miller

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© 1996 Kluwer Academic Publishers

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Foulkes, W.D., Narod, S.A. (1996). Screening for cancer in high-risk families. In: Miller, A.B. (eds) Advances in Cancer Screening. Cancer Treatment and Research, vol 86. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-1265-9_12

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  • DOI: https://doi.org/10.1007/978-1-4613-1265-9_12

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4612-8539-7

  • Online ISBN: 978-1-4613-1265-9

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