Abstract | OBJECTIVE: To review screening for cancer in high risk families. METHODS AND RESULTS: Screening for hereditary cancer involves three steps: it is first necessary to identify families at high risk by examining the number and sites of cancer in a family. Special attention is given to cancers appearing at an early age, to unusual sites, and multiple primary cancers. Second, a molecular diagnostic test is performed in order to identify family members who carry a mutant copy of the suspected gene. DNA-based diagnostic testing is now available for hereditary breast- ovarian cancer, for hereditary nonpolyposis colon cancer, for Gardner syndrome ( familial polyposis coli), for neurofibromatosis, multiple endocrine neoplasia, and for Von-Hippel Lindau disease. Third, individuals found to carry susceptibility genes are offered screening for the early detection of tumours. Some screening methods are in conventional use (e.g., colonoscopy and mammography); others are reserved for the investigation of familial cancers (e.g., pentagastrin challenge test). CONCLUSION: A comprehensive clinic for hereditary cancer must consider all three phases of the screening program and will provide expert genetic counselling to family members involved in the process.
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Authors | S A Narod |
Journal | Clinical biochemistry
(Clin Biochem)
Vol. 28
Issue 4
Pg. 367-72
(Aug 1995)
ISSN: 0009-9120 [Print] United States |
PMID | 8521590
(Publication Type: Journal Article, Review)
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Chemical References |
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Topics |
- Biomarkers, Tumor
(analysis)
- Genetic Testing
- Humans
- Neoplasms
(genetics, prevention & control)
- Risk Factors
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