Gastroenterology
Volume 137, Issue 5 , Pages 1621-1627 , November 2009

Calculation of Risk of Colorectal and Endometrial Cancer Among Patients With Lynch Syndrome

  • Elena Stoffel

      Affiliations

    • Brigham and Women's Hospital, Boston, Massachusetts
    • Dana-Farber Cancer Institute, Boston, Massachusetts
    • ,
  • Bhramar Mukherjee

      Affiliations

    • Department of Biostatistics, University of Michigan Medical School and School of Public Health, Ann Arbor, Michigan
    • ,
  • Victoria M. Raymond

      Affiliations

    • Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan
    • ,
  • Nabihah Tayob

      Affiliations

    • Department of Biostatistics, University of Michigan Medical School and School of Public Health, Ann Arbor, Michigan
    • ,
  • Fay Kastrinos

      Affiliations

    • Brigham and Women's Hospital, Boston, Massachusetts
    • ,
  • Jennifer Sparr

      Affiliations

    • Dana-Farber Cancer Institute, Boston, Massachusetts
    • ,
  • Fei Wang

      Affiliations

    • Department of Biostatistics, University of Michigan Medical School and School of Public Health, Ann Arbor, Michigan
    • ,
  • Prathap Bandipalliam

      Affiliations

    • Dana-Farber Cancer Institute, Boston, Massachusetts
    • ,
  • Sapna Syngal

      Affiliations

    • Brigham and Women's Hospital, Boston, Massachusetts
    • Dana-Farber Cancer Institute, Boston, Massachusetts
    • ,
  • Stephen B. Gruber

      Affiliations

    • Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan
    • Department of Epidemiology and Human Genetics, University of Michigan Medical School and School of Public Health, Ann Arbor, Michigan
    • Corresponding Author InformationReprint requests Address requests for reprints to: Stephen B. Gruber, MD, MPH, PhD, Division of Epidemiology and Human Genetics, University of Michigan School of Public Health, 1524 BSRB, Ann Arbor, Michigan 48105. fax: (734) 647-7950

Received 8 May 2009 ,Accepted 8 July 2009.

References 

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  2. Lindor NM, Petersen GM, Hadley DW, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA. 2006;296:1507–1517
  3. Vasen HF, Mecklin JP, Khan PM, et al. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991;34:424–425
  4. Hampel H, Frankel W, Panescu J, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352:1851–1860
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  10. Vasen HF, Wijnen JT, Menko FH, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996;110:1020–1027
  11. Quehenberger F, Vasen HF, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet. 2005;42:491–496
  12. Jenkins MA, Baglietto L, Dowty JG, et al. Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. Clin Gastroenterol Hepatol. 2006;4:489–498
  13. Alarcon F, Lasset C, Carayol J, et al. Estimating cancer risk in HNPCC by the GRL method. Eur J Hum Genet. 2007;15:831–836
  14. Lange K, Weeks D, Boehnke M. Programs for Pedigree Analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol. 1988;5:471–472
  15. Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72:1117–1130
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  18. Barrow E, Robinson L, Alduaij W, et al. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin Genet. 2009;75:141–149
  19. Kastrinos F, Stoffel EM, Balmaña J, et al. Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States. Cancer Epidemiol Biomarkers Prev. 2008;17:2044–2051
  20. Goecke T, Schulmann K, Engel C, et al. Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium. J Clin Oncol. 2006;24:4285–4292
  21. Chen S, Wang W, Lee S, et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA. 2006;296:1479–1487
  22. Murff HJ, Spigel DR, Syngal S. Does this patient have a family history of cancer? (An evidence-based analysis of the accuracy of family cancer history). JAMA. 2004;292:1480–1489
  23. Douglas FS, O'Dair LC, Robinson M, et al. The accuracy of diagnoses as reported in families with cancer: a retrospective study. J Med Genet. 1999;36:309–312
  24. Sijmons RH, Boonstra AE, Reefhuis J, et al. Accuracy of family history of cancer: clinical genetic implications. Eur J Hum Genet. 2000;8:181–186

 E.S. and B.M. contributed equally to this work.

 Conflict of interest The authors disclose the following: Dr Syngal and Dr Gruber have been external advisors to Myriad Genetic Laboratories. The remaining authors disclose no conflicts.

 Funding This work was supported in part by the National Cancer Institute (RO1 CA81488 to S.B.G., K07 CA 120448-01-A2 to E.S., and K24 CA 113433 to S.S., R03 CA130045 to B.M.), the University of Michigan's Cancer Center Support Grant (5 P30 CA46592).

PII: S0016-5085(09)01158-5

doi: 10.1053/j.gastro.2009.07.039

Gastroenterology
Volume 137, Issue 5 , Pages 1621-1627 , November 2009

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