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

Recruiting
Conditions
Malignant Neoplasm
Interventions
Other: cytology specimen collection procedure
Registration Number
NCT02280161
Lead Sponsor
Jonsson Comprehensive Cancer Center
Brief 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 of developing cancer), their impact on treatment response, and their role in cancer development.

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.

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
2000
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 & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
Ancillary-Correlative (germ-line mutation analysis)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.
Primary Outcome Measures
NameTimeMethod
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.

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.

Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

Jonsson Comprehensive Cancer Center

🇺🇸

Los Angeles, California, United States

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