Mutations in BRCA1 and BRCA2 cause tumor development in Hereditary Breast and Ovarian Cancer syndrome (HBOC) through accumulation of unrepaired DNA damage. Extensive research of BRCA1 and BRCA2 mutations has led to well-defined breast and ovarian cancer risks in individuals with HBOC. Previous studies have reported additional cancers associated with BRCA 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.
A retrospective chart review of MD Anderson Cancer Center patients identified 1081 individuals with a BRCA 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 BRCA2 mutation had significantly higher number of observed cases compared to expected cases for pancreatic cancer (SIR 21.7, 95% CI 13.1-34.0, p value p value = 0.002). Individuals with a BRCA1 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.
","abstract_html":"<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>","abstract_has_math":false,"creators":["Mersch, Jacqueline"],"institution":null,"degree_name":"Masters of Science (MS)","degree_level":"Thesis (MS)","degree_discipline":null,"degree_department":null,"school":null,"contributors":["Jennifer Litton, MD","Michelle Jackson, MS, CGC","Denise Nebgen, MD, PhD"],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2014,"date_issued":"2014-05-01T07:00:00Z","date_published":"2014-05-01T07:00:00Z","updated_at":"2026-07-24T05:49:41Z","subjects":["BRCA mutation","cancer spectrum","hereditary breast and ovarian cancer syndrome","HBOC","pancreatic cancer","prostate cancer","Medical Genetics","Medicine and Health Sciences","Oncology"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"https://digitalcommons.library.tmc.edu/utgsbs_dissertations/462","outbound_label":"Repository record","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor","label":"Contributor","values":["Jennifer Litton, MD","Michelle Jackson, MS, CGC","Denise Nebgen, MD, PhD"]},{"key":"dc:creator","label":"Author","values":["Mersch, Jacqueline"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.available","label":"Dc Date Available","values":["2014-11-03T08:00:00Z"]},{"key":"thesis:degree_level","label":"Degree Level","values":["Thesis (MS)"]},{"key":"thesis:degree_name","label":"Degree Name","values":["Masters of Science (MS)"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["BRCA mutation","cancer spectrum","hereditary breast and ovarian cancer syndrome","HBOC","pancreatic cancer","prostate cancer","Medical Genetics","Medicine and Health Sciences","Oncology"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["https://digitalcommons.library.tmc.edu/utgsbs_dissertations/462"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.abstract","label":"Abstract","values":["Mutations in BRCA1 and BRCA2 cause tumor development in Hereditary Breast and Ovarian Cancer syndrome (HBOC) through accumulation of unrepaired DNA damage. Extensive research of BRCA1 and BRCA2 mutations has led to well-defined breast and ovarian cancer risks in individuals with HBOC. Previous studies have reported additional cancers associated with BRCA 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.
A retrospective chart review of MD Anderson Cancer Center patients identified 1081 individuals with a BRCA 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 BRCA2 mutation had significantly higher number of observed cases compared to expected cases for pancreatic cancer (SIR 21.7, 95% CI 13.1-34.0, p value p value = 0.002). Individuals with a BRCA1 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.
"]},{"key":"dc:title","label":"Title","values":["Cancers Associated With Brca1 and Brca2 Mutations Other Than Breast and Ovarian"]}]}],"canonical_facts":{"dc:contributor":["Jennifer Litton, MD","Michelle Jackson, MS, CGC","Denise Nebgen, MD, PhD"],"dc:creator":["Mersch, Jacqueline"],"dc:date.available":["2014-11-03T08:00:00Z"],"dc:description.abstract":["Mutations in BRCA1 and BRCA2 cause tumor development in Hereditary Breast and Ovarian Cancer syndrome (HBOC) through accumulation of unrepaired DNA damage. Extensive research of BRCA1 and BRCA2 mutations has led to well-defined breast and ovarian cancer risks in individuals with HBOC. Previous studies have reported additional cancers associated with BRCA 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.
A retrospective chart review of MD Anderson Cancer Center patients identified 1081 individuals with a BRCA 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 BRCA2 mutation had significantly higher number of observed cases compared to expected cases for pancreatic cancer (SIR 21.7, 95% CI 13.1-34.0, p value p value = 0.002). Individuals with a BRCA1 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.
"],"dc:identifier":["https://digitalcommons.library.tmc.edu/utgsbs_dissertations/462"],"dc:subject":["BRCA mutation","cancer spectrum","hereditary breast and ovarian cancer syndrome","HBOC","pancreatic cancer","prostate cancer","Medical Genetics","Medicine and Health Sciences","Oncology"],"dc:title":["Cancers Associated With Brca1 and Brca2 Mutations Other Than Breast and Ovarian"],"thesis:degree_level":["Thesis (MS)"],"thesis:degree_name":["Masters of Science (MS)"]},"updated_at":"2026-07-24T05:49:41Z"}