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Webster Thesis Final.pdf (542.51 KB)

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Germline POT1 gene variants in a Clinical and Pan-Cancer Cohort

Webster, Morgan D
http://orcid.org/0009-0008-8562-2410
http://rave.ohiolink.edu/etdc/view?acc_num=osu16818496274428

Abstract Details

2023, Master of Science, Ohio State University, Genetic Counseling.
Introduction: Pathogenic germline variants in the protection of telomeres protein 1 (POT1) have been associated with an increased cancer risk for a variety of different cancers including angiosarcoma, melanoma, glioma, non-medullary thyroid cancer and chronic lymphocytic leukemia. However, most of the published research to date regarding the impact of germline pathogenic variants in the POT1 gene have involved cohorts of patients with a specific cancer type. Therefore, descriptions of the POT1-assocated cancer phenotype may be impacted by ascertainment bias. Objectives: To report potentially pathogenic germline POT1 variants and describe the phenotypes associated in an unselected cohort and report pathogenic, likely pathogenic and variants of uncertain significance in POT1 and describe the phenotypes within The Ohio State University clinical cohort. Methods: By utilizing the germline data for the 19,065 individuals enrolled in The OSU James Total Cancer Care (TCC) protocol and/or the Oncology Research Information Exchange Network (ORIEN) we identified, 75 potentially pathogenic variants including 15 nonsense, frameshift, canonical splice sites and previously identified pathogenic variants reported to Clinvar. For the OSU clinical cohort, we identified 23 individuals with pathogenic, likely pathogenic and variants of uncertain significance and performed retrospective chart reviews. Results and Conclusion: To our knowledge, this study was the largest investigation of POT1 germline variants identified in an unselected cohort. Our results support previous POT1 cancer associations with melanoma and papillary thyroid cancer and identified new, potential associations between POT1 germline variants and bladder cancers, lung cancer, and neuroendocrine tumors. Our study also suggests that POT1 germline variants could be associated with multiple primary cancers.
Pamela Brock (Advisor)
Lindsey Byrne (Committee Member)
Mohammed Abdel-Rahman, Dr. (Committee Member)
58 p.
Genetics
POT1; Cancer; Genetics; Shelterin; Telomeres

Recommended Citations

Citations

  • Webster, M. D. (2023). Germline POT1 gene variants in a Clinical and Pan-Cancer Cohort [Master's thesis, Ohio State University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=osu16818496274428

    APA Style (7th edition)

  • Webster, Morgan. Germline POT1 gene variants in a Clinical and Pan-Cancer Cohort. 2023. Ohio State University, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=osu16818496274428.

    MLA Style (8th edition)

  • Webster, Morgan. "Germline POT1 gene variants in a Clinical and Pan-Cancer Cohort." Master's thesis, Ohio State University, 2023. http://rave.ohiolink.edu/etdc/view?acc_num=osu16818496274428

    Chicago Manual of Style (17th edition)

osu16818496274428
461
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