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Noralane M. Lindor, Mark H. Greene, Mayo Familial Cancer Program, The Concise Handbook of Family Cancer Syndromes, JNCI: Journal of the National Cancer Institute, Volume 90, Issue 14, 15 July 1998, Pages 1039–1071, https://doi.org/10.1093/jnci/90.14.1039
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Extract
Introduction
Some details are inevitably lost when attempting to simplify subjects involving complex medical genetics subjects. However, unless an attempt is made to distill such topics, busy clinicians who may only occasionally need access to these subjects may perceive the information to be inaccessible. With these considerations in mind, we have attempted to develop a clinically usable catalog of recognizable family cancer syndromes. Thirtyfive different syndromes are included (shown in Tables 1-3). Thereafter, the subjects are listed in alphabetical order. For each disorder, the following template was used:
OMIM number (in the genetic database known as On-Line Mendelian Inheritance in Man, which can be accessed via the internet for collated up-to-date genetic information, at www3.ncbi.nlm.nih.gov/Omim/searchomim.html)
Inheritance pattern
Gene and chromosomal location
Mutations
Incidence
Diagnosis
Laboratory features
Associated malignant neoplasms
Associated benign neoplasms
Surveillance strategies
Comment(s) (optional)
References (selected)
The surveillance strategies are offered with full acknowledgment that the efficacy of these strategies are, in all instances, unproved by controlled clinical trials. Only for hereditary nonpolyposis colon cancer (HNPCC) and for BRCA1- and BRCA2- related hereditary breast cancer syndromes have consensus statements been published. Review of these statements reveals that, even for these three relatively common and well-studied disorders, the quality of evidence supporting the published screening guidelines is still only that of expert opinion, with the one exception being some observational series of the efficacy of colonoscopy in HNPCC. For the less common disorders, even greater uncertainty exists regarding the efficacy of screening procedures. Uncertainty even exists as to which malignant neoplasms are truly associated with specific disorders. It is not the intent of this document to define these syndromes or to establish a standard of care. Clinicians and their patients need to be aware that screening methods and interventions in these disorders are still unproven. Nevertheless, it is our contention that cancer prevention efforts are warranted in individuals who are thought to have a predisposition to site-specific cancers, i.e., when early detection of those cancers may prevent morbidity and mortality.
