Evaluating The Nccn Clinical Criteria For Hereditary Breast and Ovarian Cancer Syndrome Genetic Testing

<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>

Name thesis:degree_name

Masters of Science (MS)

Level thesis:degree_level

Thesis (MS)

Year dc:date.available

2015

Author dc:creator

• Wu, Caiqian

Contributors dc:contributor

• Molly Daniels, MS
• Banu Arun, MD
• Carlos Barcenas, MD, MSc

• NCCN
• BRCA1
• BRCA2
• BRCA
• genetic testing
• hereditary breast and ovarian cancer
• Genetics
• Medicine and Health Sciences
• Neoplasms
• Oncology
• Preventive Medicine

Repository record dc:identifier

https://digitalcommons.library.tmc.edu/utgsbs_dissertations/583

OAI identifier oai:identifier

oai:digitalcommons.library.tmc.edu:utgsbs_dissertations-1623