Clinical Sequencing Contributes to a BRCA-Associated Cancer Rediagnosis That Guides an Effective Therapeutic Course

Cancer is currently classified and treated using an approach based on tissue of origin. Ambiguous or incorrect diagnoses, however, are common and often go unnoticed. Clinical cancer sequencing can provide diagnostic precision, therapeutic direction, and hereditary cancer risk assessment. This report presents a patient with an initial diagnosis of metastatic pancreatic adenocarcinoma (PDA), a disease with a dismal prognosis. Tumor sequencing revealed genomic abnormalities inconsistent with PDA, instead suggesting serous ovarian cancer. This molecular rediagnosis was further refined by the identification of a BRCA2 truncating mutation in the tumor, subsequently confirmed to be a germline event. These findings prompted the initiation of platinum-based chemotherapy, which produced a life-altering response, and referral to genetic counseling for her offspring. These results suggest that clinical tumor sequencing can simultaneously clarify diagnoses, guide therapy, and inform familial risk, even in patients with end-stage metastatic disease, making the case for the development of specific strategies to deploy sequencing coupled with big data in oncology to improve clinical cancer management.

Target Audience

This activity has been designated to meet the educational needs of physicians and nurses involved in the management of patients with cancer.

Learning Objectives

Upon completion of this activity, participants will be able to:

  • Describe the potential for clinical cancer sequencing in diagnosis, treatment, and hereditary risk assessment
  • Identify strategies for the application of sequencing to clinical cancer management
Additional information
Supporters: 

No commercial support was received for this article.

Course summary
Available credit: 
  • 1.00 Participation
  • 1.00 Nurse
  • 1.00 Physician
Course opens: 
07/09/2015
Course expires: 
07/09/2016
Cost:
$0.00

Available Credit

  • 1.00 Participation
  • 1.00 Nurse
  • 1.00 Physician

Accreditation Period

Course opens: 
07/09/2015
Course expires: 
07/09/2016

Price

Cost:
$0.00
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  • A device with an Internet connection
  • Adobe Reader or other PDF reader software for article and certificate viewing/printing