Identification and Analysis of Families With Genetic Susceptibility To Cancer Registry

About the Study

The research laboratory at the Abramson Cancer Center is studying genetic sources of cancer risk and currently has one of the largest collections (also called a registry) of families with known or suspected risk in the world. A number of research projects are performed in collaboration with this registry. Research participants receive a numerical identification number that protects their privacy. Collaborating centers do not have access to personal identifiers such as names and dates of birth because only the numerical identifiers are shared.

For more information visit basser.org/researchregistry.

Specific research projects are listed below:

• CIMBA (The Consortium of Investigators of Modifiers of BRCA1/2)
  • CIMBA is an international group of investigators representing 28 countries focused on studying many issues related to inherited BRCA1/2. One main area is the identification of modifier genes. That is, genes other than BRCA1 and BRCA2 that may impact cancer risk in mutation carriers.
• BRIDGE (BRCA1/2 International Diversity by Geography and Ethnicity)
  • Most women (95%) who participate in BRCA1/2-related research are of Caucasian and Jewish ancestry. Through the BRIDGE study investigators hope to increase participation of underrepresented groups of women in BRCA1/2 research. Through studying this underrepresented population, researchers hope to provide clinically relevant information about BRCA1/2 mutations by ethnicity and geography and improve risk assessment and an understanding of modifiers of risk in these populations.

What the Study Entails

Participation involves providing medical and family history, key medical records, and a DNA saliva sample. There are no costs associated with participation and all arrangements can be made over the telephone or through the mail. Travel to the University of Pennsylvania is not necessary for participation.

Study Contact Information

For more information or to enroll online, visit basser.org/researchregistry..

People can participate if:

• They are mutation positive for:
  • BRCA1 or BRCA2, or a BRCA1/2 variant of uncertain significance
  • A gene mutation linked to a heritable gastrointestinal syndrome (such as Lynch Syndrome)
  • An inherited mutation in another cancer risk gene
  • Personal diagnosis of breast cancer under age 40
  • Personal diagnosis of bilateral breast cancer under age 50
  • Personal diagnosis of "triple negative" breast cancer under age 60 (Triple negative breast cancer is estrogen receptor negative, progesterone receptor negative, Her2/neu negative)
  • Personal diagnosis of ovarian cancer at any age
  • Personal history of breast or ovarian cancer at any age and at least one family member with breast or ovarian cancer
  • Personal history of breast cancer at any age and a second primary cancer (A second primary cancer is a second cancer diagnosis that is not related to your first cancer diagnosis. It is not a recurrence or metastasis of your original diagnosis of breast cancer. The second primary cannot be skin cancer except melanoma.)
  • Male breast cancer