Perceived Versus Predicted Risks of Colorectal Cancer and Self-Reported Colonoscopies by Members of Mismatch Repair Gene Mutation-Carrying Families Who Have Declined Genetic Testing

People carrying germline mutations in mismatch repair genes are at high risk of colorectal cancer (CRC), yet about half of people from mutation-carrying families decline genetic counselling and/or testing to identify mutation status. We studied the association of quantitative measures of risk percep...

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Bibliographic Details
Published in:Journal of genetic counseling 2014-02, Vol.23 (1), p.79-88
Main Authors: Flander, Louisa, Speirs-Bridge, Andrew, Rutstein, Alison, Niven, Heather, Win, Aung Ko, Ait Ouakrim, Driss, Hopper, John L., Macrae, Finlay, Keogh, Louise, Gaff, Clara, Jenkins, Mark
Format: Article
Language:English
Subjects:
Adult
Aged
Base Pair Mismatch
Biomedical and Life Sciences
Biomedicine
Clinical Psychology
Colonoscopy
Colorectal cancer
Colorectal Neoplasms - diagnosis
Colorectal Neoplasms - genetics
Ethics
Female
Genetic Carrier Screening
Genetic counseling
Genetic disorders
Genetic screening
Genetic testing
Gynecology
Human Genetics
Humans
Male
Middle Aged
Mismatch repair
Original Research
Public Health
Repairs
Risk perception
Screening
Screening colonoscopy
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Summary:People carrying germline mutations in mismatch repair genes are at high risk of colorectal cancer (CRC), yet about half of people from mutation-carrying families decline genetic counselling and/or testing to identify mutation status. We studied the association of quantitative measures of risk perception, risk prediction and self-reported screening colonoscopy in this elusive yet high-risk group. The sample of 26 participants (mean age 43.1 years, 14 women) in the Australasian Colorectal Cancer Family Registry were relatives of mutation carriers; had not been diagnosed with any cancer at the time of recruitment and had declined an invitation to attend genetic counselling and/or testing. A structured elicitation protocol captured perceived CRC risk over the next 10 years. Self-reported colonoscopy screening was elicited during a 45-minute semi-structured interview. Predicted 10-year CRC risk based on age, gender, known mutation status and family history was calculated using “MMRpro.” Mean perceived 10-year risk of CRC was 31 % [95 % CI 21, 40], compared with mean predicted risk of 4 % [2, 7] ( p  
ISSN:1059-7700
1573-3599
DOI:10.1007/s10897-013-9614-2