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

Study Overview
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Brief Summary
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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
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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.

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

Conditions
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Malignant Neoplasm

Intervention / Treatment
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* Other: cytology specimen collection procedure


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Ancillary-Correlative (germ-line mutation analysis)<br>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<br>* Correlative studies<br>* Other names: cytologic sampling;|

What is the study measuring?
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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 |