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Obtaining and Using Genetic Information

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Abstract

Our current understanding of the molecular pathophysiology of cancer explains many of the important epidemiology and clinical observations that have been made in the last 100 years.

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References

  1. Lynch HT, Lynch JF. Familial factors and genetic predisposition to cancer: Population studies. Cancer Detect Prev 1991;15:49–57.

    PubMed  CAS  Google Scholar 

  2. Woolf CM. An investigation of the familial aspects of carcinoma of the prostate. Cancer 1960;13:739.

    Article  PubMed  CAS  Google Scholar 

  3. Anderson DE. Some characteristics of familial breast cancer. Cancer 1971;28:1500–1504.

    Article  PubMed  CAS  Google Scholar 

  4. Easton D, Petro J. The contribution of inherited predisposition to cancer incidence. Cancer Surv 1990;9:395–416.

    PubMed  CAS  Google Scholar 

  5. Ahnen DJ. Genetics of colon cancer. West J Med 1991;154:700–705.

    PubMed  CAS  Google Scholar 

  6. Offit K, Brown K. Quantitating familial cancer risks: A resource for clinical oncologists. J Clin Oncol 1994;12:1724–1736.

    PubMed  CAS  Google Scholar 

  7. Perera FP. Molecular epidemiology: Insights into cancer susceptibility, risk assessment, and prevention. JNCI 1996;88:496–509.

    Article  PubMed  CAS  Google Scholar 

  8. Li FP, Garber JE, Friend SH, et al. Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals. JNCI 1992;84:1156–1160.

    Article  PubMed  CAS  Google Scholar 

  9. Berchuck A, Cirisano F, Lancaster JM, et al. Role of BRCA1 mutation screening in the management of familial ovarian cancer. Am J Obstet Gynecol 1996;175:738–746.

    Article  PubMed  CAS  Google Scholar 

  10. Pasini B, Ceccherini I, Romeo G. RET mutations in human disease. Trends Genet 1996;12:138–144.

    Article  PubMed  CAS  Google Scholar 

  11. Fearon ER. Human cancer syndromes: Clues to the origin and nature of cancer. Science 1997;278:1043–1050.

    Article  PubMed  CAS  Google Scholar 

  12. Lindor NM, Greene MH. The concise handbook of family cancer syndromes. JNCI 1998;90:1039–1071.

    Article  PubMed  CAS  Google Scholar 

  13. Eng C, Hampel H, de la Chapelle A. Genetic testing for cancer predisposition. Ann Med 2000;52:371–400.

    Google Scholar 

  14. Couch V, Lindor NM, Karnes PS, et al. Von Hippel-Lindau disease. Mayo Clin Proc 2000;75:265–272.

    PubMed  CAS  Google Scholar 

  15. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology 2001;121:198–213.

    Article  PubMed  CAS  Google Scholar 

  16. Bratt O. Hereditary prostate cancer: Clinical aspects. J Urol 2002;168:906–913.

    Article  PubMed  Google Scholar 

  17. Marsh D, Zori R. Genetic insights into familial cancers – update and recent discoveries. Cancer Lett 2002;26:125–164.

    Article  Google Scholar 

  18. Lynch HT, Fusaro RM, Lynch JF. Family history of cancer. Ann NY Acad Sci 1995;768:12–29.

    Article  PubMed  CAS  Google Scholar 

  19. Lynch HT, Paulson J, Severin M, et al. Failure to diagnose hereditary colorectal cancer and its medicolegal implications. A hereditary nonpolyposis colorectal cancer case. Dis Colon Rectum 1999;42:31–35.

    Article  PubMed  CAS  Google Scholar 

  20. Acton RT, Burst NM, Casebeer L, et al. Knowledge, attitudes and behaviors of Alabama’s primary care physicians regarding cancer genetics. Acad Med 2000;75:850–852.

    Article  PubMed  CAS  Google Scholar 

  21. Ruo L, Cellini C, La-Calle JP Jr, et al. Limitations of family cancer history assessment at initial consultation. Dis Colon Rectum 2001;44:98–104.

    Article  PubMed  CAS  Google Scholar 

  22. Lynch HT. Cancer family history and genetic testing: Are malpractice adjudications waiting to happen? Am J Gastroenterol 2002;97:518–520.

    Article  PubMed  Google Scholar 

  23. Bunn JY, Bosompra K, Ashikaga T, et al. Factors influencing intention to obtain a genetic test for colon cancer risk: A population-based study. Prev Med 2002;34:567–577.

    Article  PubMed  Google Scholar 

  24. Batra S, Valdimarsdottir H, McGovern M, et al. Awareness of genetic testing for colorectal cancer predisposition among specialists in gastroenterology. Am J Gastroenterol 2002;97:729–733.

    Article  PubMed  Google Scholar 

  25. Acton RT, Go RCP, Roseman JM, et al. Use of self-administered family history of disease instruments to predict individuals at risk for cardiovascular diseases, hypertension and diabetes. Am J Hum Genet 1989;45:A275.

    Google Scholar 

  26. Love R, Evans M, Josten DM. The accuracy of patient reports of a family history of cancer. J Chron Dis 1985;38:289–293.

    Article  PubMed  CAS  Google Scholar 

  27. Koch M, Gaedke H, Jenkins H. Family history of ovarian cancer patients: A case–control study. Int J Epidemiol 1989;18:782–785.

    Article  PubMed  CAS  Google Scholar 

  28. Bondy ML, Strom SS, Colopy MW, et al. Accuracy of family history of cancer obtained through interviews with relatives of patients with childhood sarcoma. J Clin Epidemiol 1994;47:89–96.

    Article  PubMed  CAS  Google Scholar 

  29. Parent ME, Ghadirian P, Lacroix A, et al. Accuracy of reports of familial breast cancer in a case-control series. Epidemiology 1995;6:184–186.

    Article  PubMed  CAS  Google Scholar 

  30. Aitken J, Bain C, Ward M, et al. How accurate is self-reported family history of colorectal cancer? Am J Epidemiol 1995;141:863–871.

    PubMed  CAS  Google Scholar 

  31. Desai MM, Bruce ML, Desai RA, et al. Validity of self-reported cancer history: A comparison of health interview data and cancer registry records. Am J Epidemiol 2001;153:299–306.

    Article  PubMed  CAS  Google Scholar 

  32. Progeny pedigree drawing software. http://www.progeny2000.com.

  33. Cyrillic pedigree drawing software. http://www.cyrillicsoftware.com.

  34. FTREE. A family tree printing program for PC/DOS and compatibles and DEC VAX computers that use Hewlett-Packard laser jet compatible printers. epi2.soph.uab.edu.

    Google Scholar 

  35. Fil Quiaoit, Pedigree Data Processing SYStem (PDPSys). 1998. http://lynx.fhcrc.org/_qge/d.html/software/pdpsys.html.

  36. Gail MH, Brinton LA, Byar DP, et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. JNCI 1989;81:1879–1886.

    Article  PubMed  CAS  Google Scholar 

  37. Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Cancer 1994;73:643–651.

    Article  PubMed  CAS  Google Scholar 

  38. Bodian CA, Perzin KH, Lattes R. Lobular neoplasia: Long term risk of breast cancer and relation to other factors. Cancer 1996;78:1024–1034.

    Article  PubMed  CAS  Google Scholar 

  39. McGuigan KA, Ganz PA, Breant C. Agreement between breast cancer risk estimates. JNCI 1996;88:1315–1317.

    Article  PubMed  CAS  Google Scholar 

  40. McTiernan A, Gilligan MA, Redmond C. Assessing individual risk for breast cancer: Risky business. J Clin Epidemiol 1997;50:547–556.

    Article  PubMed  CAS  Google Scholar 

  41. Euhus DM, Leitch M, Huth JF, et al. Limitations of the Gail model in the specialized breast cancer risk assessment clinic. Breast J 2002;8:23–27.

    Article  PubMed  Google Scholar 

  42. Costantino JP, Gail MH, Pee D, et al. Validation studies for models projecting the risk of invasive and total breast cancer incidence. JNCI 1999;91:1541–1548.

    Article  PubMed  CAS  Google Scholar 

  43. Slattery MI, Kerber RA. A comprehensive evaluation of family history and breast cancer risk: The Utah Population Database. JAMA 1993;270:1563–1568.

    Article  PubMed  CAS  Google Scholar 

  44. Colditz GA, Willett WC, Hunter DJ, et al. Family history, age and risk of breast cancer: Prospective data from the Nurses’ Health Study. JAMA 1993;270:338–343.

    Article  PubMed  CAS  Google Scholar 

  45. Couch FJ, DeShano ML, Blackwood A, et al. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med 1997;336:1409–1415.

    Article  PubMed  CAS  Google Scholar 

  46. Shattuck-Eidens D, Oliphant A, McClure M, et al. BRCA1 sequence analysis in women at high risk for susceptibility mutations. JAMA 1997;278:1242–1250.

    Article  PubMed  CAS  Google Scholar 

  47. Frank TS, Manley SA, Olopade OI, et al. Sequence analysis of BRCA 1 and BRCA 2: Correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 1998;16:2417–2425.

    PubMed  CAS  Google Scholar 

  48. Frank TS, Deffenbaugh AM, Reid JE, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals. J Clin Oncol 2002;20:1480–1490.

    Article  PubMed  CAS  Google Scholar 

  49. Euhus DM. Understanding mathematical models for breast cancer risk assessment and counseling. Breast J 2001;7:224–232.

    Article  PubMed  CAS  Google Scholar 

  50. Euhus DM, Smith KC, Robinson L, et al. Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO. JNCI 2002;94:844–851.

    Article  PubMed  CAS  Google Scholar 

  51. Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997;336:1401–1408.

    Article  PubMed  CAS  Google Scholar 

  52. Abeliovich D, Kaduri L, Lerer I, et al. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 1997;60:505–514.

    PubMed  CAS  Google Scholar 

  53. Warner E, Foulkes W, Goodwin P, et al. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. JNCI 1999;91:1241–1247.

    Article  PubMed  CAS  Google Scholar 

  54. Beller U, Halle D, Catane R, et al. High frequency of BRCA1 and BRCA2 germline mutations in Ashkenazi Jewish ovarian cancer patients, regardless of family history. Gynecol Oncol 1997;67:123–126.

    Article  PubMed  CAS  Google Scholar 

  55. Robson ME, Offit K. New BRCA2 mutation in an Ashkenazi Jewish family with breast and ovarian cancer. Lancet 1997;350:117–118.

    Article  PubMed  CAS  Google Scholar 

  56. Schubert EL, Lee MK, Mefford JE, et al. BRCA22 in American families with four or more cases of breast or ovarian cancer: Recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2. Am J Hum Genet 1997;60:1031–1040.

    PubMed  CAS  Google Scholar 

  57. Terdiman JP, Conrad PG, Sleisenger MH. Genetic testing in hereditary colorectal cancer: Indications and procedures. J Gastroenterol 1999;94:2344–2356.

    CAS  Google Scholar 

  58. Johns LE, Kee F, Collins BJ, et al. Colorectal cancer mortality in first-degree relatives of early-onset colorectal cancer cases. Dis Colon Rectum 2002;45:681–686.

    Article  PubMed  Google Scholar 

  59. Ivanovich JL, Read TE, Ciske DJ, et al. A practical approach to familial and hereditary colorectal cancer. Am J Med 1999;107:68–77.

    Article  PubMed  CAS  Google Scholar 

  60. American Gastroenterological Association. Medical position statement: Hereditary colorectal cancer and genetic testing. Gastroenterology 2001;121:195–197.

    Article  Google Scholar 

  61. Sampson JR, Dolwani S, Jones S, et al. Autosomal recessive colorectal polyposis due to inherited mutations of MYH. Lancet 2003;362:39–41.

    Article  PubMed  CAS  Google Scholar 

  62. Lipton L, Tomlinson I. The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol 2004;8:633–638.

    Article  Google Scholar 

  63. Jones S, Emmerson P, Maynard J, et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenomas and somatic G:C(right arrow)T:A mutations. Hum Mol Genet 2002;11:2961–2967.

    Article  PubMed  CAS  Google Scholar 

  64. Venesio T, Molatore S, Catteno F, et al. High frequency of MYH mutations in a subset of patients with familial adenomatous polyposis. Gastroenterology 2004;126:1681–1685.

    Article  PubMed  CAS  Google Scholar 

  65. Ionov Y, Peinado MA, Maikhosyan S, et al. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993;363:558–561.

    Article  PubMed  CAS  Google Scholar 

  66. Saletti P, Edwin ID, Pack K, et al. Microsatellite instability: application in hereditary non-polyposis colorectal cancer. Ann Oncol 2001;12:151–160.

    Article  PubMed  CAS  Google Scholar 

  67. Kuwada SK, Ncklason, Burt RW. Biology and molecular genetics. Colorectal cancer. Ed. Saltz LB. Humana Press, Totowa, NJ 2002;14.

    Google Scholar 

  68. Parsons R, Li GM, Longley MJ, et al. Hypermutability and mismatch repair deficiency in RER-cells. Cell 1993;75:1227–1236.

    Article  PubMed  CAS  Google Scholar 

  69. Hemminki A, Peltomaki P, Mecklin JP, et al. Loss of wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nat Genet 1994;8:405–410.

    Article  PubMed  CAS  Google Scholar 

  70. Bubb VJ, Curtis LJ, Cunningham C, et al. MSI and the role of hMSH2 in sporadic colorectal cancer. Oncogene 1996;12:2641–2649.

    PubMed  CAS  Google Scholar 

  71. Aaltonen LA, Peltomaki P, Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993;260:812–816.

    Article  PubMed  CAS  Google Scholar 

  72. Thibodoeau SN, Bren G, Schaid D. MSI in cancer of the proximal colon. Science 1993; 260:816–819.

    Article  Google Scholar 

  73. Borresen AL, Lothe RA, McLing GI, et al. Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas. Hum Mol Genet 1995;4:2065–2072.

    Article  PubMed  CAS  Google Scholar 

  74. Herman JG, Umar A, Polyak K, et al. Incidence and functional consequences of hMLI1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci USA 1998;95:8698–8702.

    Article  Google Scholar 

  75. Vasen HF, Mecklin JP, Kahn PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424–425.

    Article  PubMed  CAS  Google Scholar 

  76. Park JG, Vasen HF, Park YJ, et al. Suspected HNPCC and Amsterdam critical II: evaluation of mutation detection rate, an international collaborative study. Int J Colorectal Dis 2002;17:109–114.

    Article  PubMed  Google Scholar 

  77. Lindor NM, Rabe K, Petersen GM, et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 2005;293:1979–1985.

    Article  PubMed  CAS  Google Scholar 

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Correspondence to C. Neal Ellis .

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Ellis, C.N. (2011). Obtaining and Using Genetic Information. In: Ellis, C. (eds) Inherited Cancer Syndromes. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-6821-0_1

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  • DOI: https://doi.org/10.1007/978-1-4419-6821-0_1

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