| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS | REGISTER |
|
|
|
|
|||||||||||||
|
|
|||||||||||||||
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
MEDICAL GENETICS IN PRACTICE |
1 Clinical Cancer Genetics and Human Cancer Genetics Programs, The Ohio State University, Columbus, Ohio, USA
2 Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA
Correspondence to:
Ms Heather Hampel
The Ohio State University, 8th Floor Tower, 2050 Kenny Rd, Columbus, OH 43221, USA; hampel-2{at}medctr.osu.edu]
ABSTRACT
Background: There have been many papers on the diagnostic criteria for specific hereditary cancer susceptibility syndromes and the likelihood that an individual has a germline mutation in one of the various cancer susceptibility genes. To assist health care professionals in deciding when a cancer genetics consultation is appropriate, available reports were critically reviewed in order to develop a single set of risk assessment criteria.
Methods: The criteria were based on a comprehensive review of publications describing diagnostic criteria for hereditary cancer syndromes and risk to first degree relatives of cancer patients. Priority was given to diagnostic criteria from consensus statements (for example, those from the National Comprehensive Cancer Network). Expert opinion from study personnel was then used to adopt a single set of criteria from other publications whenever guidelines differed.
Results: Based on family history, a set of criteria was developed to identify patients at risk for a hereditary cancer susceptibility syndrome, patients with moderate risk who might benefit from increased cancer surveillance, and patients who are at average risk. The criteria were applied to 4360 individuals who provided their cancer family history between July 1999 and April 2002, using a touch screen computer system in the lobby of a comprehensive cancer centre. They categorised an acceptable number of users into each risk level: 14.9% high risk, 13.7% moderate risk, and 59.6% average risk; 11.8% provided insufficient information for risk assessment.
Conclusions: These criteria should improve ease of referral and promote consistency across centres when evaluating patients for referral to cancer genetics specialists.
Keywords: family history; risk assessment; cancer; heredity
Abbreviations: CRC, colorectal cancer; FDR, first degree relative; HBOC, hereditary breast and/or ovarian cancer syndrome; HNPCC, hereditary non-polyposis colon cancer syndrome; LFL, Li-Fraumeni-like; LFS, Li-Fraumeni syndrome; MEN, multiple endocrine neoplasia; NCCN, National Comprehensive Cancer Network, SDR, second degree relative
This article has been cited by other articles:
|
|
 |
|
  K. Hemminki, J. Sundquist, and J. Lorenzo Bermejo Familial Risks for Cancer as the Basis for Evidence-Based Clinical Referral and Counseling Oncologist, March 1, 2008; 13(3): 239 - 247. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. S. Acheson, S. J. Zyzanski, K. C. Stange, A. Deptowicz, and G. L. Wiesner Validation of a Self-Administered, Computerized Tool for Collecting and Displaying the Family History of Cancer J. Clin. Oncol., December 1, 2006; 24(34): 5395 - 5402. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. V. Tyler Jr. and C. W. Snyder Cancer Risk Assessment: Examining the Family Physician's Role J Am Board Fam Med, September 1, 2006; 19(5): 468 - 477. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L Wideroff, S T Vadaparampil, M H Greene, S Taplin, L Olson, and A N Freedman Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians J. Med. Genet., October 1, 2005; 42(10): 749 - 755. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. D. Nelson, L. H. Huffman, R. Fu, and E. L. Harris Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Systematic Evidence Review for the U.S. Preventive Services Task Force Ann Intern Med, September 6, 2005; 143(5): 362 - 379. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B Leegte, A H van der Hout, A M Deffenbaugh, M K Bakker, I M Mulder, A ten Berge, E P Leenders, J Wesseling, J de Hullu, N Hoogerbrugge, et al. Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations J. Med. Genet., March 1, 2005; 42(3): e20 - e20. [Full Text] [PDF]
|
|
|
|
 |
|
 R. Sifri, S. Gangadharappa, and L. S. Acheson Identifying and Testing for Hereditary Susceptibility to Common Cancers CA Cancer J Clin, November 1, 2004; 54(6): 309 - 326. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K Hemminki and C Eng Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans J. Med. Genet., November 1, 2004; 41(11): 801 - 807. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Eng and D. Iglehart Decision Aids From Genetics to Treatment of Breast Cancer: Long-term Clinical Utility or Temporary Solution? JAMA, July 28, 2004; 292(4): 496 - 498. [Full Text] [PDF]
|
|
|
|
|
|
K R Blazer, M Grant, S R Sand, D J MacDonald, G C Uman, and J N Weitzel Effects of a cancer genetics education programme on clinician knowledge and practice J. Med. Genet., July 1, 2004; 41(7): 518 - 522. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS | REGISTER |
