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Cancer Risks for Carriers of Germline Pathogenic Variants in Xeroderma Pigmentosum Genes

Spor, Lauren Marie (2023) Cancer Risks for Carriers of Germline Pathogenic Variants in Xeroderma Pigmentosum Genes. Master Essay, University of Pittsburgh.

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Xeroderma pigmentosum (XP) is an autosomal recessive genetic condition that significantly increases one’s risk of developing skin cancer. There are eight major subtypes of XP, which are caused by germline pathogenic variants (GPV) in eight different genes.
Some genes, associated with other autosomal recessive cancer-predisposition syndromes, are known to increase cancer risks in GPV carriers – that is, individuals who have one copy of a GPV but are unaffected by the disorder. Thus, this study aimed to elucidate whether unaffected XP carriers are also at an increased risk of developing cancer.
Seven variants across six XP genes were evaluated. Statistical analyses were performed using data from Geisinger’s MyCode Community Health Initiative to determine if carriers were at an increased risk of developing cancer, or developed cancer at an earlier age, than noncarriers. A literature review was performed to document reports of homozygotes, compound heterozygotes, and heterozygous carriers with these variants of interest. To meet inclusion criteria, publications must have commented on the individual’s cancer status.
Ultimately, some variants were suggestive of increased cancer risks in GPV carriers of XP genes. The public health relevance of this work is to inform appropriate cancer and genetic screening guidelines. Understanding whether XP carriers are at an increased risk of developing cancer, or developing cancer at a younger age, is important for appropriate cancer prevention and treatment.


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Item Type: Other Thesis, Dissertation, or Long Paper (Master Essay)
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Spor, Lauren Marielauren.spor@pitt.eduLMS288
ContributionContributors NameEmailPitt UsernameORCID
Committee ChairGoldstein, Alisagoldstea@mail.nih.govUNSPECIFIEDUNSPECIFIED
Committee MemberShaffer, Johnjohn.r.shaffer@pitt.eduJRS51UNSPECIFIED
Committee MemberFelter, Elizabethemfelter@pitt.eduemfelterUNSPECIFIED
Date: 17 May 2023
Date Type: Completion
Number of Pages: 70
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MPH - Master of Public Health
Thesis Type: Master Essay
Refereed: Yes
Uncontrolled Keywords: Xeroderma pigmentosum; Cancer; Genetics; Epidemiology; Carrier status
Date Deposited: 17 May 2023 14:38
Last Modified: 17 May 2023 14:38


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