Cancers Associated With Brca1 and Brca2 Mutations Other Than Breast and Ovarian

<p>Mutations in <em>BRCA1</em> and <em>BRCA2</em> cause tumor development in Hereditary Breast and Ovarian Cancer syndrome (HBOC) through accumulation of unrepaired DNA damage. Extensive research of <em>BRCA1</em> and <em>BRCA2</em> mutations has led to well-defined breast and ovarian cancer risks in individuals with HBOC. Previous studies have reported additional cancers associated with <em>BRCA</em> mutations; however, the type of cancer, magnitude of risk, and differences between sexes remains to be clarified. Ultimately, a consensus of additional cancer risks can aid in better recommendations for genetic testing and more effective screening and prevention guidelines.</p> <p>A retrospective chart review of MD Anderson Cancer Center patients identified 1081 individuals with a <em>BRCA</em> mutation. A detailed cancer history for each person was collected and compared to the general population incidence rates reported by the CDC using standardized incidence ratios (SIR). Individuals with a <em>BRCA2</em> mutation had significantly higher number of observed cases compared to expected cases for pancreatic cancer (SIR 21.7, 95% CI 13.1-34.0, <em>p</em> value p value = 0.002). Individuals with a <em>BRCA1</em> mutation did not have a significant increase in cancers other than breast and ovarian; however, a trend in melanoma was observed in men and women. The results of this study uphold the current recommendations for HBOC screening of cancers other than breast and ovarian by the National Comprehensive Cancer Network.</p>

Name thesis:degree_name

Masters of Science (MS)

Level thesis:degree_level

Thesis (MS)

Year dc:date.available

2014

Author dc:creator

• Mersch, Jacqueline

Contributors dc:contributor

• Jennifer Litton, MD
• Michelle Jackson, MS, CGC
• Denise Nebgen, MD, PhD

• BRCA mutation
• cancer spectrum
• hereditary breast and ovarian cancer syndrome
• HBOC
• pancreatic cancer
• prostate cancer
• Medical Genetics
• Medicine and Health Sciences
• Oncology

Repository record dc:identifier

https://digitalcommons.library.tmc.edu/utgsbs_dissertations/462

OAI identifier oai:identifier

oai:digitalcommons.library.tmc.edu:utgsbs_dissertations-1503