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

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.

Study Overview

• Status: Recruiting
• Conditions: Malignant Neoplasm
• Intervention / Treatment: Other: cytology specimen collection procedure

Detailed Description

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.

• Study Type: Observational
• Enrollment (Estimated): 2000

Contacts and Locations

Study Locations

• United States
  • California
    • Los Angeles, California, United States, 90095
      • Recruiting
      • Jonsson Comprehensive Cancer Center
      • Contact: Joanne B. Weidhaas; Phone Number: 310-825-9775; Email: jweidhaas@mednet.ucla.edu
      • Principal Investigator: Joanne B. Weidhaas

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Adults with a confirmed diagnosis of cancer.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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.	Other: cytology specimen collection procedure; Correlative studies; Other Names: cytologic sampling

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	Up to 5 years
Response to treatment	The impact of inherited variants on response to treatment will be determined.	Up to 5 years
Cancer development	The role of inherited variants in clinical and pathological cancer development will be determined.	Up to 5 years

Collaborators and Investigators

• Sponsor: Jonsson Comprehensive Cancer Center
• Investigators: Principal Investigator: Joanne Weidhaas, Jonsson Comprehensive Cancer Center

Study record dates

Study Major Dates

• Study Start (Actual): September 16, 2014
• Primary Completion (Estimated): September 16, 2024
• Study Completion (Estimated): September 16, 2025

Study Registration Dates

• First Submitted: October 29, 2014
• First Submitted That Met QC Criteria: October 29, 2014
• First Posted (Estimated): October 31, 2014

Study Record Updates

• Last Update Posted (Actual): August 8, 2023
• Last Update Submitted That Met QC Criteria: August 4, 2023
• Last Verified: August 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neoplasms
• Other Study ID Numbers: 14-001115; NCI-2014-02065 (Registry Identifier: CTRP (Clinical Trial Reporting Program)); JCCCID488 (Other Identifier: Jonsson Comprehensive Cancer Center)