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Genetics Clinic Re-contact of Patients with Unexplained Defective Mismatch Repair

Cooper, Julia Nicole

Abstract Details

2019, Master of Science, Ohio State University, Genetic Counseling.
Introduction: Tumor screening for Lynch syndrome (LS) by immunohistochemistry or microsatellite stability is recommended in individuals with colorectal and endometrial cancer. A minority of patients will have an abnormal LS screen but have subsequent negative germline testing for a mismatch repair (MMR) gene. Historically, these patients were informed that they likely had LS due to an unidentifiable germline mutation in an MMR. As such, they and their families were advised to follow LS cancer surveillance guidelines. Current data, however, shows that several of these cases were due to double somatic (DS) mutations in the MMR genes. With this knowledge, individuals who are following LS guidelines due to unexplained defective MMR (dMMR) cancer history should be offered additional tumor testing for DS MMR gene mutations. Methods: 20 individuals from The Ohio State University (OSU) Division of Human Genetics (DHG) were informed of this additional testing via letter in the mail. Sixteen were identified as eligible for the study and were contacted by telephone. A semi-structured interview was conducted prior to the patient undergoing additional genetic testing. Questions were asked to assess the participants’ and their families’ cancer risk perception and adherence to LS surveillance guidelines, as well as the participants’ feelings toward being re-contacted by the OSU DHG in regard to the new testing. Results: Eight individuals underwent a semi-structured interview. Five believed they had LS, but only four were adherent to LS surveillance guidelines. All participants said they informed at least one relative about their previous genetic test results, but seven said their relatives were not following LS screening guidelines. Six individuals expressed positive emotions towards receiving the re-contact letter, while two were indifferent. Seven were interested in the additional testing. Four scheduled an appointment with a genetic counselor and pursued genetic testing. Conclusion: This study provides an outline for genetics clinic re-contact of patients with unexplained dMMR in light of additional genetic testing that could resolve their previously inconclusive germline test results and provides novel insights into patient risk perception, adherence to LS surveillance recommendations, and patient feelings towards being re-contacted.
Heather Hampel, MS, LGC (Advisor)
Leigha Senter, MS, LGC (Committee Member)
Rachel Pearlman, MS, LGC (Committee Member)
64 p.

Recommended Citations

Citations

  • Cooper, J. N. (2019). Genetics Clinic Re-contact of Patients with Unexplained Defective Mismatch Repair [Master's thesis, Ohio State University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=osu1554401645266717

    APA Style (7th edition)

  • Cooper, Julia. Genetics Clinic Re-contact of Patients with Unexplained Defective Mismatch Repair. 2019. Ohio State University, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=osu1554401645266717.

    MLA Style (8th edition)

  • Cooper, Julia. "Genetics Clinic Re-contact of Patients with Unexplained Defective Mismatch Repair." Master's thesis, Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu1554401645266717

    Chicago Manual of Style (17th edition)