Last updated on March 2019

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

Brief description of study

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 Study Description


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.


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.


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.

Clinical Study Identifier: NCT02280161

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