Malignant NeoplasmNCT02280161
Germ-Line Mutations in Blood and Saliva Samples From Patients With Cancer
An observational study of Malignant Neoplasm, run by Jonsson Comprehensive Cancer Center at 1 site in United States.
Trial summary
This research trial studies germ-line mutations in blood and saliva samples from patients with cancer. Studying samples of blood and saliva from patients with cancer in the laboratory may help doctors learn more about how inherited genetic mutations can affect cancer predisposition (an inherited increase in the risk… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Malignant Neoplasm
- What is being tested?
- cytology specimen collection procedure
- How many people
- 2,000 participants
- Where
- 1 siteUnited States
- Study dates
- 16 Sep 2014to 16 Sep 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Adults with a confirmed diagnosis of cancer.
Who may be able to join
- Pathologically or clinical confirmed tissue diagnosis of a cancer
- Ability to understand and the willingness to sign a written informed consent
Who cannot join
- Patients will be excluded if their cancer cannot be confirmed
- Refusal to sign the informed consent
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Jonsson Comprehensive Cancer Center
Los Angeles, California, 90095
Joanne B. Weidhaas, 310-825-9775, jweidhaas@mednet.ucla.edu
Joanne B. Weidhaas
About this study
Official title: An Investigation of the Role of Germ-Line Mutations in Cancer Predisposition, Tumor Biology, and Response to Treatment
This research trial studies germ-line mutations in blood and saliva samples from patients with cancer. Studying samples of blood and saliva from patients with cancer in the laboratory may help doctors learn more about how inherited genetic mutations can affect cancer predisposition (an inherited increase in the risk of developing cancer), their impact on treatment response, and their role in cancer development.
Read the detailed description
PRIMARY OBJECTIVES:
- To collect germ-line deoxyribonucleic acid (DNA) and nucleic acids from cancer patients to further investigate the association and identify new germ-line mutations that impact cancer predisposition.
II. To investigate the role of germ-line mutations in predicting cancer outcome and response to therapy.
SECONDARY OBJECTIVES:
- To determine the effect of the identified variants on tumor micro-ribonucleic acid (miRNA), protein and gene expression.
II. To study expression of DNA, ribonucleic acid (RNA) or protein in the blood of cancer patients with and without variants of interest to discover correlations between such levels and the presence of cancer and/or response to therapy in these patients.
OUTLINE:
Patients undergo collection of blood and saliva samples 1-3 times at the discretion of the investigator for germ-line mutation analysis.
After completion of study, patients are followed up for 5 years.
- Conditions
- Malignant Neoplasm
- Being tested
- cytology specimen collection procedure
- Medical subject headings
- Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
cytology specimen collection procedureOther
Also called cytologic sampling
Correlative studies
| Study group | Role | What they receive |
|---|---|---|
| Ancillary-Correlative (germ-line mutation analysis) | Patients undergo collection of blood and saliva samples 1-3 times at the discretion of the investigator for germ-line mutation analysis. Receives: Other: cytology specimen collection procedure |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of germ-line variants
The prevalence of germ-line variants of interest will be compared to the baseline prevalence found using available large human genomic DNA collections. The primary statistical analysis will involve comparisons of genotypes between with (cases) and without (controls) the germ-line mutation. This analysis will include Pearson's chi-square analysis or Fisher's exact test and computation of odds ratios to assess the relationship of the genetic polymorphism and cancer risk.
Measured: Up to 5 years
Overall genotype frequencies
The overall genotype frequencies among the cases and expected control levels will first be compared with the frequencies expected from Hardy-Weinberg equilibrium by goodness-of-fit chi-square. Odds ratios and 95% confidence intervals will be used to estimate risk associated with the variant genotypes by using both univariate and unconditional multivariate logistic regression models.
Measured: Up to 5 years
Response to treatment
The impact of inherited variants on response to treatment will be determined.
Measured: Up to 5 years
Cancer development
The role of inherited variants in clinical and pathological cancer development will be determined.
Measured: Up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Oct 2014 (estimated)
- Study start16 Sep 2014
- Primary completion16 Sep 2027 (estimated)
- Study completion16 Sep 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Malignant NeoplasmStudies of the same condition, open and under way.
- More trials run by Jonsson Comprehensive Cancer CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 2,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Jonsson Comprehensive Cancer Center
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Joanne Weidhaas, Principal investigator, Jonsson Comprehensive Cancer Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02280161
- Sponsor's protocol ID
- 14-001115
- Other IDs
- NCI-2014-02065, JCCCID488
- Status last verified
- Nov 2025
- First submitted
- 29 Oct 2014
- Last updated
- 20 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Investigation of the Role of Germ-Line Mutations in Cancer Predisposition, Tumor Biology, and Response to Treatment
- ClinicalTrials.gov ID
- NCT02280161
- Acronym / sponsor ID
- 14-001115
- Conditions
- Malignant Neoplasm
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Jonsson Comprehensive Cancer CenterUniversity, hospital or other
- Study start
- 16 Sep 2014 (actual)
- Primary completion
- 16 Sep 2027 (estimated)
- Study completion
- 16 Sep 2028 (estimated)
- First posted
- 31 Oct 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This research trial studies germ-line mutations in blood and saliva samples from patients with cancer. Studying samples of blood and saliva from patients with cancer in the laboratory may help doctors learn more about how inherited genetic mutations can affect cancer predisposition (an inherited increase in the risk of developing cancer), their impact on treatment response, and their role in cancer development.
Detailed description
PRIMARY OBJECTIVES:
- To collect germ-line deoxyribonucleic acid (DNA) and nucleic acids from cancer patients to further investigate the association and identify new germ-line mutations that impact cancer predisposition.
II. To investigate the role of germ-line mutations in predicting cancer outcome and response to therapy.
SECONDARY OBJECTIVES:
- To determine the effect of the identified variants on tumor micro-ribonucleic acid (miRNA), protein and gene expression.
II. To study expression of DNA, ribonucleic acid (RNA) or protein in the blood of cancer patients with and without variants of interest to discover correlations between such levels and the presence of cancer and/or response to therapy in these patients.
OUTLINE:
Patients undergo collection of blood and saliva samples 1-3 times at the discretion of the investigator for germ-line mutation analysis.
After completion of study, patients are followed up for 5 years.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Ancillary-Correlative (germ-line mutation analysis) | – | Other: cytology specimen collection procedurePatients undergo collection of blood and saliva samples 1-3 times at the discretion of the investigator for germ-line mutation analysis. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Adults with a confirmed diagnosis of cancer.
Key inclusion criteria (2 listed)
- Pathologically or clinical confirmed tissue diagnosis of a cancer
- Ability to understand and the willingness to sign a written informed consent
Key exclusion criteria (2 listed)
- Patients will be excluded if their cancer cannot be confirmed
- Refusal to sign the informed consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| cytology specimen collection procedureAlso: cytologic samplingCorrelative studies | Other | Ancillary-Correlative (germ-line mutation analysis) |
Primary outcome
Prevalence of germ-line variants
Time frame: Up to 5 years
The prevalence of germ-line variants of interest will be compared to the baseline prevalence found using available large human genomic DNA collections. The primary statistical analysis will involve comparisons of genotypes between with (cases) and without (controls) the germ-line mutation. This analysis will include Pearson's chi-square analysis or Fisher's exact test and computation of odds ratios to assess the relationship of the genetic polymorphism and cancer risk.
Overall genotype frequencies
Time frame: Up to 5 years
The overall genotype frequencies among the cases and expected control levels will first be compared with the frequencies expected from Hardy-Weinberg equilibrium by goodness-of-fit chi-square. Odds ratios and 95% confidence intervals will be used to estimate risk associated with the variant genotypes by using both univariate and unconditional multivariate logistic regression models.
Response to treatment
Time frame: Up to 5 years
The impact of inherited variants on response to treatment will be determined.
Cancer development
Time frame: Up to 5 years
The role of inherited variants in clinical and pathological cancer development will be determined.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Oct 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Joanne Weidhaas principal investigator
Jonsson Comprehensive Cancer Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Malignant Neoplasm, run by Jonsson Comprehensive Cancer Center at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 20 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of germ-line variants (time frame: Up to 5 years). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Oct 2026.