Tissue Acquisition and Genomics Analysis of Breast Cancer and Other Gynecologic Malignancies

Background:

A person s blood, tissue, and other samples contain DNA. Cancer is a disease of cells that are not working properly. It is caused by changes in DNA that build up. Researchers want to do future studies on DNA changes This may help them learn how to guide treatment for cancer. They need biological samples like tumors, blood, and urine for these studies.

Objective:

To create a place to collect and store biological samples from people with gynecologic malignancies like breast cancer. Samples from certain relatives of theirs will be collected too.

Eligibility:

Adults ages 18 and older who are being seen at NIH for breast cancer or other gynecologic malignancy

Their biological relatives of the same age

Design:

Participants will answer questions about their family history.

Participants will have a physical exam and medical history. This will include questions about age, ethnicity, and disease history. They will also answer questions about their medical treatments and responses.

Participants will give blood and urine samples.

Participants may give a tumor tissue sample. This will not be taken specifically for this study. It will be from a previous procedure or one that is already planned.

Other samples may be taken only if a procedure is required for treatment. These include bone marrow, cerebrospinal fluid, and other fluids.

A group of doctors and other professionals will oversee the sample storage place. The group will review all requests to be sure the use of the specimens is valid.

Study Overview

• Status: Enrolling by invitation
• Conditions: Breast Cancer; Ovarian Cancer; Uterine Cancer

Detailed Description

Background:

Increased understanding of the genomic variations of cancer through laboratory evaluations can result in breakthroughs in treatment and improved patient outcomes.

Exceptional responders on clinical trials may have mutational characteristics that are unique and unknown, necessitating identification.

Current drug development strategies employ precision oncology. This approach identifies molecular targets, with therapies being either chosen or developed to interact with the specific target.

The collection and banking of a variety of tissue samples for future translational studies would support research and advance the mission of the NIH.

Pleural effusions, ascites as well as other tissues, such as blood, CSF, tumor, bone marrow, and urine, provide a unique opportunity to conduct a variety of translational research, addressing many clinical questions.

The establishment of a tissue repository would enhance the mission of the NCI, in helping to advance research supporting precision oncology.

Primary Objective:

To establish a tissue repository for the collection and banking of tissue samples from patients with breast and/or other gynecologic malignancies, as well as patients consenting 1st -3rd degree biological relatives, seen at the NIH for support of future translational research conducted at the NIH.

Eligibility:

Personal diagnosis of breast or other gynecologic malignancy, or be a 1st-3rd degree biological relative of a patient with cancer, currently or previously on a NIH clinical trial.

All subjects (index patient with cancer and their 1st-3rd degree biological relatives) must sign consent and enroll onto this study, in order to donate tissue for biobanking on this protocol.

Adults, >= age 18, willing to provide tissue for biobanking

Design:

Samples include, but are not limited to, tumor (e.g., tissue, outside paraffin blocks or slides), blood, serum, plasma, and urine; to be collected after subjects have met eligibility and signed consent. Clinically-indicated samples (e.g., bone marrow, cerebrospinal fluid (CSF), malignant ascites, and effusions) collected under treatment protocols may be transferred to this biorepository protocol for research We will also obtain samples (mainly blood) from volunteer, consenting 1st-3rd degree biological relatives of patients with histologically confirmed cancer, to be paired with their family member.

Tissue will be accessed by study investigators. Additional CCR investigators who wish to use tissue from this repository must first provide a written Letter of Intent, (LOI), to be reviewed by an investigator appointed ad hoc committee for approval.

Assays used for sample processing, establishment of cell lines, patient derived xenograft models, and storage are described in detail within this protocol. Also, some assays for future translational research are either listed or described herein. Further detailed description of experimental designs, along with statistical analysis, will be provided within future investigator-initiated sample use addendums to this protocol, or new IRB approved protocols, developed in order to study samples from this biorepository.

• Study Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • National Institutes of Health Clinical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Patients who are being seen in follow up, consultation, or presenting for enrollment on a clinical trial at the NIH Clinical Center

Description

• INCLUSION CRITERIA:
• Adult subject (age 18 and older) co-enrolled on a trial, or otherwise undergoing consultation, screening, or follow up on existing protocols conducted at the NIH Clinical Center, who are evaluated in the Women s Malignancies Branch Clinic.
• Participant or biological relative of a participant, as follows:
• Participant with a histologically confirmed breast cancer or other gynecologic malignancy; histopathology of the biopsy tissue must be

confirmed by the NCI Laboratory of Pathology, prior to banking of the tissue on this protocol.

• Biological relative (1st 3rd degree) of a participant who meets the eligibility of histologically confirmed malignancy per above

criterion.

• Subject willingness and ability to provide informed consent.
• Subject willingness to provide tissue samples for banking.

EXCLUSION CRITERIA:

- Pregnant individuals are not eligible to take part; pregnancy will be assessed using clinical criteria (medical history and physical exam).

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Patient Relatives; Biological relatives (1st-3rd degree) of participants with histologically confirmed malignancy
Patients; Participants with histologically confirmed malignancy

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Establishment of a tissue repository for the collection and banking of tissue samples	A tissue repository	at study completion

Collaborators and Investigators

• Sponsor: National Cancer Institute (NCI)
• Investigators: Principal Investigator: Jung-Min Lee, M.D., National Cancer Institute (NCI)

Publications and helpful links

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): January 4, 2022
• Primary Completion (Estimated): December 29, 2028
• Study Completion (Estimated): December 29, 2028

Study Registration Dates

• First Submitted: December 1, 2018
• First Submitted That Met QC Criteria: December 1, 2018
• First Posted (Actual): December 4, 2018

Study Record Updates

• Last Update Posted (Actual): April 18, 2024
• Last Update Submitted That Met QC Criteria: April 17, 2024
• Last Verified: February 22, 2024

More Information

Terms related to this study

• Keywords: Natural History; Tissue Repository; Genetic Analysis; Biobanking
• Additional Relevant MeSH Terms: Skin Diseases; Neoplasms; Urogenital Neoplasms; Neoplasms by Site; Genital Neoplasms, Female; Uterine Diseases; Breast Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Genital Diseases, Female; Breast Neoplasms; Uterine Neoplasms
• Other Study ID Numbers: 190025; 19-C-0025

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: .All IPD recorded in the medical record will be shared with intramural investigators upon request. @@@@@@In addition, all large scale genomic sequencing data will be shared with subscribers to dbGaP
• IPD Sharing Time Frame: Clinical data available during the study and indefinitely.@@@@@@Genomic data are available once genomic data are uploaded per protocol GDS plan for as long as database is active.
• IPD Sharing Access Criteria: Clinical data will be made available via subscription to BTRIS and with the permission of the study PI. @@@@@@Genomic data are made available via dbGaP through requests to the data custodians.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No