Hereditary Breast and Ovarian Cancer (HBOC) syndrome predisposes females with a BRCA1 or BRCA2 mutation to an up to 85% lifetime risk for breast cancer and an up to 40% lifetime risk for ovarian cancer. It is crucial for individuals with HBOC to be identified to allow for proper screening, management, and identification of at-risk family members in order to reduce mortality. The National Comprehensive Cancer Network (NCCN) has established clinical guidelines for when to recommend BRCA1/2 testing. A retrospective chart review of 1123 M.D. Anderson Cancer Center breast cancer patients was performed in order to evaluate the positive predictive values (PPVs) of 14 individual criterion for predicting a BRCA1/2 mutation. Two criteria had PPVs significantly below 10%. Only 2 of 115 patients recommended for testing based solely on the criterion of “diagnosed with breast cancer ≤45 years of age” tested positive for a pathogenic mutation at a PPV of 1.6% (0.2-6%, 95% CI), which is significantly below the clinical utility cut-off of 10% (p = 0.001). Additionally, 0 out of 37 individuals who underwent testing based on the criterion, “diagnosed with breast cancer at any age with ≥2 close blood relatives with breast cancer at any age” tested positive (0-9%, 95% CI). Overall, an individual who meets more than one criterion has a PPV of 12% while those who meet only one criterion has a PPV of 3.52%, which is significantly below 10% (p<.0001) for predicting BRCA1/2 positivity. This data can help provide more personalized risks and anticipatory guidance for patients in their decision to pursue genetic testing.
","abstract_html":"<p>Hereditary Breast and Ovarian Cancer (HBOC) syndrome predisposes females with a <em>BRCA1</em> or <em>BRCA2</em> mutation to an up to 85% lifetime risk for breast cancer and an up to 40% lifetime risk for ovarian cancer. It is crucial for individuals with HBOC to be identified to allow for proper screening, management, and identification of at-risk family members in order to reduce mortality. The National Comprehensive Cancer Network (NCCN) has established clinical guidelines for when to recommend <em>BRCA1/2</em> testing. A retrospective chart review of 1123 M.D. Anderson Cancer Center breast cancer patients was performed in order to evaluate the positive predictive values (PPVs) of 14 individual criterion for predicting a <em>BRCA1/2</em> mutation. Two criteria had PPVs significantly below 10%. Only 2 of 115 patients recommended for testing based solely on the criterion of “diagnosed with breast cancer ≤45 years of age” tested positive for a pathogenic mutation at a PPV of 1.6% (<em>0.2-6%, 95% CI</em>), which is significantly below the clinical utility cut-off of 10% (<em>p = 0.001</em>). Additionally, 0 out of 37 individuals who underwent testing based on the criterion, “diagnosed with breast cancer at any age with ≥2 close blood relatives with breast cancer at any age” tested positive (<em>0-9%, 95% CI).</em> Overall, an individual who meets more than one criterion has a PPV of 12% while those who meet only one criterion has a PPV of 3.52%, which is significantly below 10% (<em>p<.0001)</em> for predicting <em>BRCA1/2 </em>positivity. This data can help provide more personalized risks and anticipatory guidance for patients in their decision to pursue genetic testing.</p>","abstract_has_math":false,"creators":["Wu, Caiqian"],"institution":null,"degree_name":"Masters of Science (MS)","degree_level":"Thesis (MS)","degree_discipline":null,"degree_department":null,"school":null,"contributors":["Molly Daniels, MS","Banu Arun, MD","Carlos Barcenas, MD, MSc"],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2015,"date_issued":"2015-05-01T07:00:00Z","date_published":"2015-05-01T07:00:00Z","updated_at":"2026-07-24T05:50:31Z","subjects":["NCCN","BRCA1","BRCA2","BRCA","genetic testing","hereditary breast and ovarian cancer","Genetics","Medicine and Health Sciences","Neoplasms","Oncology","Preventive Medicine"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"https://digitalcommons.library.tmc.edu/utgsbs_dissertations/583","outbound_label":"Repository record","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor","label":"Contributor","values":["Molly Daniels, MS","Banu Arun, MD","Carlos Barcenas, MD, MSc"]},{"key":"dc:creator","label":"Author","values":["Wu, Caiqian"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.available","label":"Dc Date Available","values":["2016-05-10T07:00:00Z"]},{"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":["NCCN","BRCA1","BRCA2","BRCA","genetic testing","hereditary breast and ovarian cancer","Genetics","Medicine and Health Sciences","Neoplasms","Oncology","Preventive Medicine"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["https://digitalcommons.library.tmc.edu/utgsbs_dissertations/583"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.abstract","label":"Abstract","values":["Hereditary Breast and Ovarian Cancer (HBOC) syndrome predisposes females with a BRCA1 or BRCA2 mutation to an up to 85% lifetime risk for breast cancer and an up to 40% lifetime risk for ovarian cancer. It is crucial for individuals with HBOC to be identified to allow for proper screening, management, and identification of at-risk family members in order to reduce mortality. The National Comprehensive Cancer Network (NCCN) has established clinical guidelines for when to recommend BRCA1/2 testing. A retrospective chart review of 1123 M.D. Anderson Cancer Center breast cancer patients was performed in order to evaluate the positive predictive values (PPVs) of 14 individual criterion for predicting a BRCA1/2 mutation. Two criteria had PPVs significantly below 10%. Only 2 of 115 patients recommended for testing based solely on the criterion of “diagnosed with breast cancer ≤45 years of age” tested positive for a pathogenic mutation at a PPV of 1.6% (0.2-6%, 95% CI), which is significantly below the clinical utility cut-off of 10% (p = 0.001). Additionally, 0 out of 37 individuals who underwent testing based on the criterion, “diagnosed with breast cancer at any age with ≥2 close blood relatives with breast cancer at any age” tested positive (0-9%, 95% CI). Overall, an individual who meets more than one criterion has a PPV of 12% while those who meet only one criterion has a PPV of 3.52%, which is significantly below 10% (p<.0001) for predicting BRCA1/2 positivity. This data can help provide more personalized risks and anticipatory guidance for patients in their decision to pursue genetic testing.
"]},{"key":"dc:title","label":"Title","values":["Evaluating The Nccn Clinical Criteria For Hereditary Breast and Ovarian Cancer Syndrome Genetic Testing"]}]}],"canonical_facts":{"dc:contributor":["Molly Daniels, MS","Banu Arun, MD","Carlos Barcenas, MD, MSc"],"dc:creator":["Wu, Caiqian"],"dc:date.available":["2016-05-10T07:00:00Z"],"dc:description.abstract":["Hereditary Breast and Ovarian Cancer (HBOC) syndrome predisposes females with a BRCA1 or BRCA2 mutation to an up to 85% lifetime risk for breast cancer and an up to 40% lifetime risk for ovarian cancer. It is crucial for individuals with HBOC to be identified to allow for proper screening, management, and identification of at-risk family members in order to reduce mortality. The National Comprehensive Cancer Network (NCCN) has established clinical guidelines for when to recommend BRCA1/2 testing. A retrospective chart review of 1123 M.D. Anderson Cancer Center breast cancer patients was performed in order to evaluate the positive predictive values (PPVs) of 14 individual criterion for predicting a BRCA1/2 mutation. Two criteria had PPVs significantly below 10%. Only 2 of 115 patients recommended for testing based solely on the criterion of “diagnosed with breast cancer ≤45 years of age” tested positive for a pathogenic mutation at a PPV of 1.6% (0.2-6%, 95% CI), which is significantly below the clinical utility cut-off of 10% (p = 0.001). Additionally, 0 out of 37 individuals who underwent testing based on the criterion, “diagnosed with breast cancer at any age with ≥2 close blood relatives with breast cancer at any age” tested positive (0-9%, 95% CI). Overall, an individual who meets more than one criterion has a PPV of 12% while those who meet only one criterion has a PPV of 3.52%, which is significantly below 10% (p<.0001) for predicting BRCA1/2 positivity. This data can help provide more personalized risks and anticipatory guidance for patients in their decision to pursue genetic testing.
"],"dc:identifier":["https://digitalcommons.library.tmc.edu/utgsbs_dissertations/583"],"dc:subject":["NCCN","BRCA1","BRCA2","BRCA","genetic testing","hereditary breast and ovarian cancer","Genetics","Medicine and Health Sciences","Neoplasms","Oncology","Preventive Medicine"],"dc:title":["Evaluating The Nccn Clinical Criteria For Hereditary Breast and Ovarian Cancer Syndrome Genetic Testing"],"thesis:degree_level":["Thesis (MS)"],"thesis:degree_name":["Masters of Science (MS)"]},"updated_at":"2026-07-24T05:50:31Z"}