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NCT Number: NCT02280161

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

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.

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Key information

Conditions

Malignant Neoplasm Neoplasms

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Jonsson Comprehensive Cancer Center

Los Angeles, California, 90095, United States

Location status: Recruiting

Location contact

Joanne B. Weidhaas

CONTACT

[email protected]

310-825-9775

Joanne B. Weidhaas

PRINCIPAL_INVESTIGATOR

About this study

PRIMARY OBJECTIVES:

I. 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:

I. 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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

  • Patients will be excluded if their cancer cannot be confirmed
  • Refusal to sign the informed consent

Treatment and study plan

Cytology Specimen Collection Procedure

Other

Correlative studies

Other names: cytologic sampling

Primary outcomes

  1. 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.

  2. 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.

  3. Response to treatment

    Time frame: Up to 5 years

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

  4. Cancer development

    Time frame: Up to 5 years

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

Sponsors and collaborators

Lead sponsor

Jonsson Comprehensive Cancer Center

Other

Registry information

Official study title

An Investigation of the Role of Germ-Line Mutations in Cancer Predisposition, Tumor Biology, and Response to Treatment

Important dates

Study start
2014
Primary completion
2026
Study completion
2027
First posted
Oct 31, 2014
Registry last updated
Nov 10, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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