Document Detail

Implications of the age range in a population-based BRCA1 testing program with eligibility based on family history of breast and ovarian cancer.
MedLine Citation:
PMID:  15727244     Owner:  NLM     Status:  MEDLINE    
The current options available to BRCA1 mutation carriers can be classified as either cancer risk reduction or increased disease surveillance. Risk reduction might be preferable to young women. Increased surveillance might be more attractive to women when their cancer risk is highest. The aim of this report is to estimate the sensitivity, specificity and ability to detect carriers for a population-based BRCA1 testing program with eligibility based on family history of cancer, and examine the effect of age on the program's performance. A computer model was used to simulate the incidence of breast and ovarian cancer in a woman's family, based on her BRCA1 mutation carrier status. Age-specific estimates of the sensitivity and specificity for family history as an indicator of mutation status were applied to local population figures. Sensitivity of the program increased with the age of the proband and the size of her family. Sensitivity ranged from 0.33 for 20-year-olds with small families, to 0.98 for 60-year-olds with large families. Specificity was greater than 0.95, regardless of a woman's age or family size. If 0.12% of people carry a BRCA1 mutation, a province-wide testing program for people aged 20-69 with referrals based only on family history would have a sensitivity of 0.55. Only 2% of the genetic test results would be positive. The acceptability of a genetic testing program depends on its sensitivity and specificity, and on the options available to women who are found to carry a mutation. Compared with variation due to family size, the program sensitivity and specificity does not differ substantially amongst the various age groups.
Chris D Bajdik; Janet M Raboud; Barbara C McGillivray; Martin T Schechter; Richard P Gallagher
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genetic testing     Volume:  8     ISSN:  1090-6576     ISO Abbreviation:  Genet. Test.     Publication Date:  2004  
Date Detail:
Created Date:  2005-02-24     Completed Date:  2005-04-01     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9802546     Medline TA:  Genet Test     Country:  United States    
Other Details:
Languages:  eng     Pagination:  229-34     Citation Subset:  IM    
Cancer Control Research Program, BC Cancer Agency, Vancouver, Canada.
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MeSH Terms
Age Factors
Breast Neoplasms / diagnosis*
Family Health
Genes, BRCA1*
Genetic Testing*
Genetics, Population
Heterozygote Detection*
Middle Aged
Ovarian Neoplasms / diagnosis*
Risk Factors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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