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Frequency of Familial Colon Cancer and Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) in a Large Population Database

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Abstract

Background and aims: Estimates have been made concerning the fraction of colorectal cancer (CRC) cases that meet Amsterdam I criteria but not Amsterdam II criteria. The aim of this study was to determine in a population setting what fraction of CRC cases can be considered familial high-risk, what fraction of these meet Amsterdam I or II criteria, and what fraction of CRC cases overall meet Amsterdam I and II criteria. Methods: The Utah Population Data Base (UPDB), which links Utah genealogies to the Utah Cancer Registry, was used to examine the aims of the study. Familial high-risk was operationally defined as CRC occurring at an age <50 years or as a part of a first-degree relative pair. A subset of Amsterdam positive cancers was tested for microsatellite instability (MSI) to determine what fraction of Amsterdam families was likely to have hereditary nonpolyposis colorectal cancer (HNPCC). Results: Of the 6,628 CRC cases in the UPDB, 24.5% met the criteria for familial high-risk. Of these, 2.6% met Amsterdam I criteria and 5.5% Amsterdam II. Of total data base CRC cases, 0.8% met Amsterdam I criteria and 2.3% Amsterdam II. In a subset of colon tumors from Amsterdam families, 70% were MSI stable. Conclusions: Although nearly 25% of CRC cases in our population data base met a simple definition of familial high-risk, only a small fraction of these and a smaller fraction of total CRC cases met Amsterdam I or II criteria. Less than half of a limited set of tumors from Amsterdam families were MSI positive.

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References

  1. RW Burt (2000) ArticleTitleColon cancer screening Gastroenterology 119 837–53 Occurrence Handle10.1053/gast.2000.16508 Occurrence Handle10982778

    Article  PubMed  Google Scholar 

  2. LA Cannon-Albright et al. (1988) ArticleTitleCommon inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers N Engl J Med 319 IssueID9 533–7 Occurrence Handle2841598

    PubMed  Google Scholar 

  3. P Lichtenstein et al. (2000) ArticleTitleEnvironmental and heritable factors in the causation of cancer N Engl J Med 343 78–85 Occurrence Handle10.1056/NEJM200007133430201 Occurrence Handle10891514

    Article  PubMed  Google Scholar 

  4. JD Potter (1999) ArticleTitleColorectal cancer: molecules and populations J Natl Cancer Inst 91 IssueID11 916–32 Occurrence Handle10.1093/jnci/91.11.916 Occurrence Handle10359544

    Article  PubMed  Google Scholar 

  5. LE Johns RS Houlston (2001) ArticleTitleA systematic review and meta-analysis of familial colorectal cancer risk Am J Gastroenterol 96 IssueID10 2992–3003 Occurrence Handle10.1111/j.1572-0241.2001.04677.x Occurrence Handle11693338

    Article  PubMed  Google Scholar 

  6. S Winawer et al. (2003) ArticleTitleColorectal cancer screening and surveillance: Clinical guidelines and rationale-Update based on new evidence Gastroenterology 124 IssueID2 544–60 Occurrence Handle10.1053/gast.2003.50044 Occurrence Handle12557158

    Article  PubMed  Google Scholar 

  7. WS Samowitz et al. (2001) ArticleTitleThe colon cancer burden of genetically defined hereditary nonpolyposis colon cancer Gastroenterology 121 IssueID4 830–8 Occurrence Handle10.1053/gast.2001.27996 Occurrence Handle11606497

    Article  PubMed  Google Scholar 

  8. HT Lynch A Chapelle de la (2003) ArticleTitleHereditary colorectal cancer N Engl J Med 348 IssueID10 919–32 Occurrence Handle10.1056/NEJMra012242 Occurrence Handle12621137

    Article  PubMed  Google Scholar 

  9. C Lewis SL Neuhausen D et al Daley (1996) ArticleTitleGenetic heterogeneity and unmapped genes for colorectal cancer Cancer Res 56 1382–88 Occurrence Handle8640829

    PubMed  Google Scholar 

  10. HFA Vasen et al. (1999) ArticleTitleNew clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC Gastroenterology 116 1453–56 Occurrence Handle10348829

    PubMed  Google Scholar 

  11. M Skolnick (1980) The Utah Genealogical Database: A resource for genetic epidemiology JJ Cairns JL Lyon M Skolnick (Eds) Cancer Incidence in Defined Populations. Cold Spring Harbor Laboratory Cold Spring Harbor, NY 285–96

    Google Scholar 

  12. JE Wylie GP Mineau (2003) ArticleTitleBiomedical databases: Protecting privacy and promoting research Trends Biotechnol 21 IssueID3 113–6 Occurrence Handle10.1016/S0167-7799(02)00039-2 Occurrence Handle12628367

    Article  PubMed  Google Scholar 

  13. HFA Vasen et al. (1991) ArticleTitleThe International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) Dis Colon Rectum 34 424–5 Occurrence Handle10.1007/BF02053699 Occurrence Handle2022152

    Article  PubMed  Google Scholar 

  14. A Umar et al. (2004) ArticleTitleRevised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 261–8 Occurrence Handle14970275

    PubMed  Google Scholar 

  15. WS Samowitz ML Slattery RA Kerber (1995) ArticleTitleMicrosatellite instability in human colonic cancer is not a useful clinical indicator of familial colorectal cancer Gastroenterology 109 IssueID6 1765–71 Occurrence Handle10.1016/0016-5085(95)90742-4 Occurrence Handle7498640

    Article  PubMed  Google Scholar 

  16. CR Boland et al. (1998) ArticleTitleA National Cancer Institute Workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer Cancer Res 58 IssueID22 5248–57 Occurrence Handle9823339

    PubMed  Google Scholar 

  17. L Spirio et al. (1993) ArticleTitleAlleles of the APC gene: An attenuated form of familial polyposis Cell 75 IssueID5 951–7 Occurrence Handle10.1016/0092-8674(93)90538-2 Occurrence Handle8252630

    Article  PubMed  Google Scholar 

  18. RW Burt et al. (2004) ArticleTitleGenetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis Gastroenterology 127 IssueID2 444–51 Occurrence Handle10.1053/j.gastro.2004.05.003 Occurrence Handle15300576

    Article  PubMed  Google Scholar 

  19. Solomon CH, Pho LN, Burt RW. Current status of genetic testing for colorectal cancer susceptibility. Oncology (Huntingt), 2002; 16(2): 161–71; discussion 176, 179–80

    Google Scholar 

  20. E O’Brien et al. (1994) ArticleTitleGenetic structure of the Utah Mormons: Comparison of results based on RFLPs, blood groups, migration matrices, isonymy, and pedigrees Hum Biol 66 IssueID5 743–59 Occurrence Handle8001907

    PubMed  Google Scholar 

  21. T McLellan LB Jorde MH Skolnick (1984) ArticleTitleGenetic distances between the Utah Mormons and related populations Am J Hum Genet 36 IssueID4 836–57 Occurrence Handle6591796

    PubMed  Google Scholar 

  22. LB Jorde (1982) ArticleTitleThe genetic structure of the Utah Mormons: Migration analysis Hum Biol 54 IssueID3 583–97 Occurrence Handle7173842

    PubMed  Google Scholar 

Download references

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Correspondence to Randall W. Burt.

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Kerber, R.A., Neklason, D.W., Samowitz, W.S. et al. Frequency of Familial Colon Cancer and Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) in a Large Population Database. Familial Cancer 4, 239–244 (2005). https://doi.org/10.1007/s10689-005-0657-x

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  • DOI: https://doi.org/10.1007/s10689-005-0657-x

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