Evaluating Cancer Rates, Cancer Types, and Variant Hotspots Between Different Races and Ethnicities in Individuals with Li-Fraumeni Syndrome

<p>Li Fraumeni Syndrome (LFS) is a cancer predisposition syndrome that increases the risk for numerous cancer types in both children and adults. In the general population, incidence rates for various cancer types differ among races and ethnicities. Although a few germline <em>TP53 </em>pathogenic/likely pathogenic (P/LP) variants in those with LFS have been studied and associated with specific populations, such as the South and Southeast Brazil founder variant, p.Arg337His, there still lacks research on the variable expressivity of cancers within the LFS population based on specific variant, race and/or ethnicity. This study aims to describe the specific <em>TP53</em> germline variants, the cancer rates, and the cancer types among individuals of different racial and ethnic groups diagnosed with LFS through a retrospective chart review at a single institution. A review of individuals with germline P/LP <em>TP53</em> variants at UT MD Anderson Cancer Center was completed looking at race, ethnicity, number of cancer diagnoses, cancer types, and location of the <em>TP53 </em>variant (exon and codon). Two hundred and fifty individuals were included in the analysis. Notable findings include a significant difference between the rates of breast cancer and race (<em>p </em>= 0.037), with Black or African American LFS individuals having the highest rate of breast cancer at 76.5%. There was a significant difference between rates of variants in exon four (<em>p</em> = 0.021) and exon six (<em>p</em> = 0.016) with variants in exon four more common in Asian individuals and variants in exon six more common in Black or African American individuals. These results highlight potential differences in the rates of specific cancer types and variants in specific racial populations in a cohort of LFS patients. The results of this study allow for more personalized counseling for patients and train risk models to accurately predict cancer risk for individuals with LFS of differing races and ethnicities. </p>

Name thesis:degree_name

Masters of Science (MS)

Level thesis:degree_level

Thesis (MS)

Year dc:date.available

2025

Authors dc:creator

• Esplen, Hillary
• <p><a href="https://orcid.org/0009-0001-7496-5142">0009-0001-7496-5142</a></p>

Contributors dc:contributor

• Jessica Corredor, MS, CGC
• Banu Arun, MD
• Courtney DiNardo, MD, MSCE

• genetic
• genetic counseling
• Li-Fraumeni Syndrome
• TP53
• race
• ethnicity
• Genetics

Repository record dc:identifier

https://digitalcommons.library.tmc.edu/utgsbs_dissertations/1421

OAI identifier oai:identifier

oai:digitalcommons.library.tmc.edu:utgsbs_dissertations-2478