NTSR/Familial Cancer Registry
DESCRIPTION
In 2011, the Familial Cancer Registry (FCR) Shared Resource was subsumed under Lombardi's new Nontherapeutic Subject Registry Shared Resource (NTRSR). Once this new SR is fully implemented, check back to this page for updates.
The FCR provides investigators access to one of the nation's largest collections of individuals from high-risk breast cancer families. The majority of FCR subjects have undergone BRCA1/2 testing and can, therefore, be genetically characterized. The FCR is also accruing participants with an inherited predisposition to colorectal cancer.
The FCR is a unique resource that provides comprehensive data on these high-risk individuals including personal medical history, verified family history, detailed epidemiological data, pathology reports and pertinent medical records. It also provides investigators with access to EBV transformed cell lines, extracted DNA, archived tissue samples (malignant and benign) and the ability to acquire fresh tissue from pertinent surgeries. BRCA1/2 testing results can be linked to data and all biospecimens. FCR subjects are tracked indefinitely, and subjects are contacted on an annual basis to update information. Since the FCR maintains regular contact with its subjects, the option to collect additional questionnaire data and, in certain circumstances, additional biological specimens, is also available. The annual follow-up process could provide interested investigators with the opportunity to recruit for peer-reviewed studies including cancer screening and prevention strategies, and studies of possible cancer risk modifiers.
As of Spring 2010, the FCR has over 2400 active participants including ~500 participants who have tested positive for a BRCA1 or BRCA2 mutation and ~1200 FCR participants affected with breast or ovarian cancer. The age range of living participants is 19 to 99 years of age and the average age of FCR participants is about 55. Full data sets are available from the FCR on BRCA1/2 mutation carriers, as well as individuals who test negative for a known familial mutation, and individuals with a negative result after multisite (in Ashkenazi Jews) or full BRCA1/2 testing. If any of these groups do not suffice for a control group, then the FCR is able to provide sufficient demographic information on cases so that an appropriate control group can be found using another source.
SERVICES
A draft blurb for investigators submitting grants who need a description of the NTSR services follows:
NTSR, under the direction of Claudine Isaacs, MD and Beth N. Peshkin, MS, CGC, provides centralized patient recruitment services for nontherapeutic human trials. The NTSR implements a universal protocol and consent which includes collection of core data elements from patients at GUMC with and without cancer. Patients are also consented for collection of biospecimens and tissue, and for future contact for enrollment into specific studies and follow-up. The NTSR also provides services to investigators including data entry and programming, medical record abstraction, and risk assessment counseling. The NTSR works closely with TCSR and HTSR with the goal of providing investigators with access to data that can be linked to biospecimen samples as well as tumor and non-tumor tissue.
The NTSR also encompasses the Familial Cancer Registry (FCR), which is an integrated and comprehensive resource of individuals at high genetic risk for cancer and includes detailed demographic data, family history information, medical history, cancer risk factors, tissue from surgeries (benign and malignant), tissue micro-array, and biospecimen, all of which can be linked securely and confidentially to results of genetic testing. The majority of participants are members of high-risk breast and ovarian cancer families. Participants are contacted annually to obtain updated personal and family history.
Contact: Elizabeth Poggi at eap32 at georgetown.edu or (202) 687-8070.
EBV transformed cell lines: Blood samples from FCR subjects are transformed into cell lines using the Epstein-Barr Virus at the Tissue Culture Shared Resource, thereby providing an unlimited amount of DNA for research. Cell lines can be linked to BRCA1/2 test results, epidemiological data, medical history information, family history information, and often tumor and/or non-tumor tissue. The FCR currently has over 1260 transformed samples.
Extracted DNA: DNA is available for some FCR subjects. Extracted DNA can be linked to BRCA1/2 test results, epidemiological data, medical history information, family history information, and often tumor and/or non-tumor tissue. Subjects for whom extracted DNA is not available may have cell lines available through the FCR from which DNA can be extracted.
Other blood products: Serum, plasma, buffy coat, red blood cells, and blood clot are available as frozen aliquots.
Archived tissue (tumor and non-tumor): Tissue blocks from surgeries performed on FCR subjects at Georgetown University Hospital are stored at the Histopathology and Tissue Shared Resource (HTSR) in an area set aside for FCR blocks. A limited number of tissue blocks are also available for surgeries performed at external institutions. In some cases, FCR tissue blocks can be cut according to the requesting investigator's specifications. In addition, the FCR has one H&E stained slide and 24 unstained slides of 5 microns each for surgeries performed at external institutions and for whom tissue blocks were not available. Tissue can be linked to cell lines, extracted DNA, BRCA1/2 test results, epidemiological data, medical history information, and family history information.
Familial breast cancer tissue microarray (TMA): The FCR has built 5 TMAs of tumor tissue from FCR participants with a known BRCA1/2 status (i.e., women who have deleterious mutations as well as those with no detectable mutations). The TMA contains cores from breast cancer surgeries. In instances where axillary nodes are positive, cores were taken from affected lymph nodes, if available, to have paired samples from the breast primary and the involved nodes.
Fresh tissue (tumor and non-tumor): Since only the FCR staff knows the identity of its subjects, the staff notifies interested investigators of the opportunity to procure fresh tissue samples from its high-risk population have surgery at Georgetown University Hospital. The FCR works closely with the Histopathology and Tissue Shared Resource to retrieve the tissue sample from the operating room or from the Pathology Department while maintaining the confidentiality of the FCR subject. Frozen tissue has been obtained on specimens and cell lines have been established on a number of samples. The FCR attempts to obtain cell culture, frozen undissected tissue, frozen dissected tissue, and RNA from fresh tissue samples. Tissue can be linked to cell lines, extracted DNA, BRCA1/2 test results, epidemiological data, medical history information, and family history information.
Epidemiological data: Questionnaire data is available for FCR participants with information pertaining to general health, medical conditions and procedures, alcohol consumption, exposure history, and reproductive health history. In addition, pedigrees detailing the family history of cancer are available for FCR subjects. Epidemiological data from FCR subjects can be linked to cell lines, extracted DNA, BRCA1/2 test results, and medical and family history information.
ELIGIBILITY
The resources of the FCR are available to Lombardi Comprehensive Cancer Center investigators and to non-Lombardi investigators provided the resources will be used for cancer research. Requests will be considered for both funded and unfunded research.
PROCEDURES
Investigators wishing to use FCR services must complete a Request Form and must also sign a Data/Specimen Use Agreement after reviewing the FCR consent form (please contact the Manager for forms). Both the Request Form and Data/Specimen Use Agreement must include an original signature, and can be faxed or e-mailed to the NTRSR Manager, Elizabeth Poggi, at (202) 687-8444 or eap32 at georgetown.edu.
All requests must be approved by one of the NTRSR Directors. If an investigator requests non-renewable resources (i.e. tissue) then the request must be approved by the Tissue Review Committee, and additional information may be requested from the investigator in preparation for the review. Additionally, requests for modifications and/or additions to NTRSR data collection instruments may require the approval of the NTRSR Advisory Committee. Investigators in need of help with the design, conduct, analysis, and/or interpretation of their research will be referred to the Biostatistics and Bioinformatics Shared Resource for consultation.
Investigators are encouraged to contact either the NTRSR Directors or Manager prior to submitting a formal request to ensure that the data and/or specimens that the investigator needs are available through the FCR.
The resources of the NRTSR are available to Lombardi Comprehensive Cancer Center investigators and to non-Lombardi investigators provided the resources will be used for cancer research. Requests will be considered for both funded and unfunded research.
FEES
These fees are subject to change and are for internal LCCC users only. Fees for external users are slightly higher, and may be funded through a subcontract. Please contact the NTRSR project manger, Elizabeth Poggi, for updated information.
• $80 per sample for extracted DNA
• $40 per sample for EBV transformed cell lines with minimal data (may cost more depending on the type of preparation required)
• $55-$80 per hour for data sets depending on complexity
• $200 per TMA slide (not available externally at this time)
Fees for genetic counseling support as needed, and tissue and other blood processing costs will be calculated on a case-by-case basis, depending on investigator specifications.
ACKNOWLEDGEMENTS
Publications and/or grants arising from research projects using NTRSR specimens and/or data must acknowledge this support by stating that "samples and/or data were provided by the Nontherapeutic Recruitment Shared Resource/Familial Cancer Registry of the Georgetown Lombardi Comprehensive Cancer Center, supported in part by NIH/NCI grant P30-CA051008."
PERSONNEL
Claudine Isaacs, MD, Director
Lombardi Podium A Phone: (202) 444-3677 Email: isaacsc at georgetown.edu
Beth N. Peshkin, MS, CGC, Co-Director
3300 Whitehaven Street, NW; Suite 4100 (Harris Building) Phone: (202) 687-2716 Email: peshkinb at georgetown.edu
Elizabeth Poggi, MS, Project Manager
3300 Whitehaven Street, NW; Suite 4100 (Harris Building) Phone: (202) 687-8070 Email: eap32 at georgetown.edu