A Young Woman With Bilateral Breast Cancer: Identifying a Genetic Cause and Implications for Management

Breast cancer is a common manifestation of an underlying genetic susceptibility to cancer, and 5% to 10% of all breast cancers are associated with a germline mutation in a known risk allele. Detection of mutations has implications for targeted screening and prevention strategies for probands, and for genetic counseling and testing of their family members. This report presents a case involving a 35-year-old woman with no family history of breast or ovarian cancer who presented with a palpable right breast lump. Imaging revealed multiple bilateral breast masses and right axillary adenopathy, and core needle biopsies showed invasive ductal carcinoma in both the right and left breast. This report discusses the appropriate genetics evaluation for a patient with bilateral breast cancer at a young age, including testing for mutations in BRCA1 and BRCA2 (BRCA1/2), followed, if negative, by consideration of testing for mutations in TP53 (Li-Fraumeni syndrome). Given the specialized counseling and testing needs of patients with Li-Fraumeni syndrome, and the implications for targeted screening strategies if a mutation is found, referral to a cancer genetics expert is strongly recommended.

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 rationale for the management methods used in this case presentation
  • Identify implications for management for bilateral breast cancer in young women
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: 
05/13/2013
Course expires: 
05/13/2014
Cost:
$0.00

Monique A. de Bruin, MD, MPH
Department of Medicine
Stanford University School of Medicine
Stanford, California


James M. Ford, MD
Departments of Medicine and Genetics
Stanford University School of Medicine
Stanford, California


Allison W. Kurian, MD, MSc
Departments of Medicine and Health Research and Policy
Stanford University School of Medicine
Stanford, California

Available Credit

  • 1.00 Participation
  • 1.00 Nurse
  • 1.00 Physician

Accreditation Period

Course opens: 
05/13/2013
Course expires: 
05/13/2014

Price

Cost:
$0.00
Please login or register to take this course.

Required Hardware/software

To access this activity, users will need:

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