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Clin Genet. 2011 Apr;79(4):321-8. doi: 10.1111/j.1399-0004.2010.01622.x. Epub 2011 Jan 19.

Colonoscopy use following mutation detection in Lynch syndrome: exploring a role for cancer screening in adaptation.

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  • 1Social Network Methods Section, Social & Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, 31 Center Drive, Bethesda, MD 20892, USA.


Lynch syndrome (LS) is the most common inherited form of colorectal cancer. Mutation carriers can reduce the morbidity and mortality associated with colorectal cancer through colonoscopy. Theoretical models suggest that such health-related behaviors might also bring psychological benefits. This study assessed whether colonoscopy following mutation detection was associated with the levels of depressive symptoms. Data were obtained from a prospective family cohort study offering genetic services for LS. Participants completed questionnaires prior to the provision of services and 6 months post-receipt of mutation results. One hundred thirty-four (134) persons were identified to carry a mutation and completed both the questionnaires. Main outcome measures were depressive symptoms 6 months post-receipt of test results. Mutation carriers who did not complete a colonoscopy within the 6 months following receipt of results were six times (p < 0.01; odds ratio = 6.06) more likely to report depressive symptoms at a level of clinical importance post-receipt of test results compared to those who did undergo colonoscopy. Facilitating the expeditious use of colonoscopy following mutation detection may benefit newly identified mutation carriers by addressing the objective risks for cancer and moderating underlying emotional distress responses to genetic risk information. Furthermore, depressive symptoms may interfere with behavioral compliance in some patients, suggesting referral to mental health specialists.


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