Observational Study of Germ-Line Mutations in Cancer Patients

This research study is looking at genetic changes, called germ-line mutations, in blood and saliva samples from people with cancer. Doctors want to understand how these inherited genetic changes might increase the risk of developing cancer, affect how well treatments work, and play a role in cancer development. You may be able to join if you have a confirmed cancer diagnosis and are at least 18 years old. The main goals are to find out how common these genetic changes are and their overall frequencies, and to see how they relate to your response to treatment. The study aims to enroll 2000 participants.

Study design
This is an observational study, meaning participants are not given a specific treatment. It plans to enroll 2000 participants.
What's involved
You would provide blood and saliva samples 1-3 times. After the study, you will be followed for up to 5 years.
Compensation
Not stated in the trial record.
Follow-up
Participants are followed up for 5 years after completing the study.

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NCT02280161

Germ-Line Mutations in Blood and Saliva Samples From Patients With Cancer

Recruiting
Not specifiedAges 18+Observational
Jonsson Comprehensive Cancer Center
~2,000 participants
Updated 2025-11-10 on ClinicalTrials.gov
What's tested:cytology specimen collection procedure

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Prevalence of germ-line variants
Measured over Up to 5 years
+3 more outcomes measured
Malignant Neoplasm
1 sites across 1 states
California1
  • Joanne Weidhaas · PRINCIPAL_INVESTIGATOR · Jonsson Comprehensive Cancer Center

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Eligibility criteria

Inclusion

Pathologically or clinical confirmed tissue diagnosis of a cancer
Ability to understand and the willingness to sign a written informed consent

Exclusion

Patients will be excluded if their cancer cannot be confirmed
Refusal to sign the informed consent
  • Prevalence of germ-line variantsUp 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 frequenciesUp 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 treatmentUp to 5 years

    The impact of inherited variants on response to treatment will be determined.

  • Cancer developmentUp to 5 years

    The role of inherited variants in clinical and pathological cancer development will be determined.