Link to the University of Pittsburgh Homepage
Link to the University Library System Homepage Link to the Contact Us Form

Universal tumor screening for lynch syndrome: investigation of patient reported distress levels

Afonso, Samantha (2019) Universal tumor screening for lynch syndrome: investigation of patient reported distress levels. Master's Thesis, University of Pittsburgh. (Unpublished)

Submitted Version

Download (2MB) | Preview


Lynch syndrome is a hereditary cancer predisposition from pathogenic variants in mismatch repair (MMR) genes, conferring an increased lifetime risk of colorectal cancer up to 70%. Many healthcare facilities utilize universal tumor screening (UTS) of colorectal tumors through microsatellite instability (MSI) testing or immunohistochemistry (IHC) staining for MMR protein expression. These screening tests identify individuals at risk to carry a pathogenic variant in a Lynch related gene. This pilot study analyzed levels of patient distress among colorectal cancer patients who had UTS or who had been diagnosed with colorectal cancer before the age of 50, and subsequently underwent genetic counseling at the University of Pittsburgh Medical Center (UPMC) Hereditary GI Tumor Program, and patients with normal UTS who were seen in the surgical oncology center without genetic counseling. Patients were asked to complete a series of validated questionnaires (PHQ-8, GAD-7, IES-R) to evaluate their levels of depression, generalized anxiety, and trauma associated with their diagnosis of cancer at three points. For those who received genetic testing, the MICRA questionnaire was completed after receiving genetic test results to evaluate impact of the results on distress. Given the small number of participants (n=23), nonparametric tests were used to assess the differences in patient distress over time. Levels of distress were measured in both groups at all three time points. For a given individual, there was no statistically significant difference in any distress scores across the three time points within the case group. Analysis of baseline distress between patients in the case group and the control groups were not statistically significant, however the mean values of patient distress trended higher across the case sample compared to the control sample. The impact of test result type on distress levels did not identify a statistically significant difference (p=0.727). While not statistically significant, increased levels of uncertainty were observed in the case group after receiving genetic testing results as compared to controls. Understanding the impact of UTS on patient-associated distress has important public health implications and may assist in patient support to alleviate psychological distress and further the assessment of UTS as a public health application.


Social Networking:
Share |


Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Afonso, Samanthasaa192@pitt.edusaa192
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairBrand, Randall
Committee MemberGrubs, Robin
Committee MemberDudley,
Committee MemberShaffer,
Committee MemberBovbjerg,
Date: 21 June 2019
Date Type: Publication
Defense Date: 9 April 2019
Approval Date: 21 June 2019
Submission Date: 25 March 2019
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 104
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: Lynch Syndrome Universal Tumor Screening Genetic Counseling Colon cancer
Date Deposited: 21 Jun 2019 20:25
Last Modified: 21 Jun 2019 20:25


Monthly Views for the past 3 years

Plum Analytics

Actions (login required)

View Item View Item