Clinical Trial Details
— Status: Recruiting
Administrative data
| NCT number |
NCT03050268 |
| Other study ID # |
SJFAMILY |
| Secondary ID |
|
| Status |
Recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
April 6, 2017 |
| Est. completion date |
March 31, 2037 |
Study information
| Verified date |
May 2024 |
| Source |
St. Jude Children's Research Hospital |
| Contact |
Kim E. Nichols, MD |
| Phone |
866-278-5833 |
| Email |
referralinfo[@]stjude.org |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial Summary
NOTE: This is a research study and is not meant to be a substitute for clinical genetic
testing. Families may never receive results from the study or may receive results many years
from the time they enroll. If you are interested in clinical testing please consider seeing a
local genetic counselor or other genetics professional. If you have already had clinical
genetic testing and meet eligibility criteria for this study as shown in the Eligibility
Section, you may enroll regardless of the results of your clinical genetic testing.
While it is well recognized that hereditary factors contribute to the development of a subset
of human cancers, the cause for many cancers remains unknown. The application of next
generation sequencing (NGS) technologies has expanded knowledge in the field of hereditary
cancer predisposition. Currently, more than 100 cancer predisposing genes have been
identified, and it is now estimated that approximately 10% of all cancer patients have an
underlying genetic predisposition.
The purpose of this protocol is to identify novel cancer predisposing genes and/or genetic
variants. For this study, the investigators will establish a Data Registry linked to a
Repository of biological samples. Health information, blood samples and occasionally leftover
tumor samples will be collected from individuals with familial cancer. The investigators will
use NGS approaches to find changes in genes that may be important in the development of
familial cancer. The information gained from this study may provide new and better ways to
diagnose and care for people with hereditary cancer.
PRIMARY OBJECTIVE:
- Establish a registry of families with clustering of cancer in which clinical data are
linked to a repository of cryopreserved blood cells, germline DNA, and tumor tissues
from the proband and other family members.
SECONDARY OBJECTIVE:
- Identify novel cancer predisposing genes and/or genetic variants in families with
clustering of cancer for which the underlying genetic basis is unknown.
Description:
During the study, blood samples or other healthy tissue will be obtained from participants,
as well as medical and family histories. When possible, leftover tumor samples will also be
collected. If participants agree to be re-contacted in the future, they will be asked about
once each year to update their health information and family history.
A blood sample will be drawn at St. Jude or at a convenient place of the participant's
choice. Saliva collection will be obtained if a blood draw is not possible. For participants
who are present at St. Jude, saliva collection will generally be performed only once using a
saliva collection kit. However, if the first collection is not sufficient for protocol
required studies, then additional saliva samples may need to be collected, for up to a total
of 5 occurrences. For non St. Jude participants, or participants who do not wish or cannot
come to St. Jude, saliva will be collected locally and shipped back to the St. Jude. A skin
sample will be performed as a source of germline DNA from participants who have undergone an
allogeneic bone marrow transplant and do not have a source of pre-transplant DNA available. A
skin sample will only be obtained one time.
The biological samples will be stored in the St. Jude Biorepository. The DNA of the samples
will be studied to determine if there are changes in specific genes that might explain the
cancers in the participant or their family members. When available, and if consent is given
by the participant, previously collected and stored leftover tumor samples, bone marrow
samples or stored DNA may be analyzed.
Genetic variants of interest include: 1) mutations in known genes that may have escaped
detection through prior clinical genetic testing; 2) coding mutations predicted to disrupt
protein function, particularly in genes and pathways known to be associated with cancer; 3)
potential mutations in regulatory regions of the genome, as predicted by epigenetic studies.
In some cases, individuals with known predisposing mutations exhibit milder, more severe or
atypical phenotypes. Family members who harbor a predisposing mutation but are discordant for
a cancer phenotype will be selected for cellular and genetic studies. These will include DNA
sequencing and possibly also creation and analysis of induce pluripotent stem cells (iPSC),
transcriptome or epigenetic analysis.
All samples will be identified by a code after removal of all personal identifiable
information. Samples will remain in the repository for current and future study.
