Patient case: 67-year-old female with Breast cancer. Genetic variant: FGFR1 Amplification, PTEN (Q171). Other conditions: Depression, Hypertension, Heart Disease.

Clinical trial: A Multi Modality Surveillance Program for Women At High Risk for Breast Cancer

Summary: The purpose of this study is to develop a coordinated, standardized screening program for the early detection of breast cancer in high-risk women. This would include Breast Mammography and Magnetic Resonance Imaging (MRI) examination of your breasts. The University of Chicago Department of Radiology is performing research to develop better ways of imaging the breast. The investigators would like to be able to reliably identify abnormal tissue and determine whether abnormal areas contain cancer without surgical procedures (i.e., a biopsy which involves removing breast tissue with a needle or surgical instrument). Annual mammography has already been recommended for the patient based on family history or personal history of cancer. In young women, dense breasts sometimes make it difficult to find abnormal changes on breast cancer screening (mammograms). MRI, in combination with mammography, may increase the rate of detection of early cancers. In addition, MRI can provide better images of breast tissue. The investigators hope to prove that combining multiple screening measures including biomarkers improves the chances that, if you have a small cancer or pre-cancer, it will be found early. This study will also evaluate quality of life measures during breast cancer screening and compare breast MRI and mammogram in a high-risk population. The investigators will establish a database of clinical characteristics, blood biomarkers and interventions that will be saved for future analysis and aid in the development of more effective screening in high-risk women. This research will also help us develop tools for studies in the future.


Eligibility: Inclusion Criteria:
  -  Known BRCA1 or BRCA2 carrier (regardless of age)
  -  Any mutation carrier in hereditary breast cancer susceptibility genes that is known to increase the risk for breast cancer (regardless of age). Some examples of these would include TP53, PTEN, BRCA1 and BRCA2, CHEK2, ATM, and CDH1.
  -  For women who chose not to have genetic testing or test negative, probability of being a BRCA1 or BRCA2 carrier of 20% or greater based on BRCAPRO analysis or ≥ 25% risk of being a mutation carrier by Couch model in addition to a lifetime breast cancer risk >=20% by Gail, CARE, or Claus model
  -  Personal history of breast cancer before age 35 years
  -  Any woman of African ancestry whose 1st degree relative (mother or sister) or 2nd degree relative (aunt, grandmother) if paternal lineage suspected diagnosed with breast cancer under age 40, regardless of risk calculation
  -  Have a personal history of ductal carcinoma in situ (DCIS) diagnosed at or before age 35 AND a first degree relative who had been diagnosed with breast cancer before age 50 OR has a first degree relative diagnosed with ovarian cancer at any age
  -  Any female cancer survivor who received chest irradiation before age 30 for any disease including Hodgkin's, a sarcoma, neuroblastoma, or other medical condition.
  Exclusion Criteria:
  Women will be excluded if they meet one of the following:
  -  active cancer at the time of enrollment. A prior history of breast cancer is permitted if the subject has completed chemotherapy and is considered disease-free at the time of enrollment.
  -  current pregnancy
  -  presence of a pacemaker or any other metallic foreign objects in their body that interferes with an MRI
  -  breast surgery within two weeks of study entry
  -  previous bilateral mastectomy (prophylactic or therapeutic)
  -  history of kidney disease or abnormal kidney tests
  -  Women who test negative in a family with identifiable BRCA mutations are ineligible regardless of risk calculation

Relevance to patient case: not relevant