Genomic Profiling in Cancer Patients

Recruiting

• Conditions: Solid Tumors; Hematologic Cancers

• Registration Number: NCT01775072
• Lead Sponsor: Memorial Sloan Kettering Cancer Center

Brief Summary

The purpose of this study is to determine whether certain genes in cancer may be abnormal. When a gene is abnormal this is called a mutation. Most mutations in cancer cells are not inherited (passed down from parents) but happen after birth in the cancer itself. Most cancers have many mutations. Some of these mutations are important for the cancer cells to survive while others are not. The goal of this study is test cancer for certain mutations using leftover tumor tissue from a previous surgery or biopsy. Participants will also be asked to provide a tube of blood cheek (also known as a buccal) swab, or a saliva sample that contains normal genes for comparison.

The purpose of Part B of this study is to:

Understand how genetic changes in tumor effect the chance of responding to experimental cancer treatment. Understand how the genes in the tumor change overtime in response to targeted cancer treatment.

Detailed Description

Not available

Study Timeline

• Study Start: 2013-01-01
• Study First Submitted: 2013-01-21
• Study First Submitted QC: 2013-01-21
• Study First Posted: 2013-01-24
• Status Verified: 2025-08
• Last Update Submitted: 2025-08-27
• Last Update Posted: 2025-08-28
• Primary Completion: 2026-01
• Study Completion: 2026-01-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

Part A:

• Patients with a history of cancer or patients without a documented cancer history undergoing a surgical procedure, endoscopy, biopsy, or liquid biopsy (for example cell free DNA testing) to confirm or exclude a cancer diagnosis, or
• Any participant having a test or procedure that has the potential to provide a specimen that can be banked for future research purposes, or
• Any participant who has already had a diagnostic or therapeutic procedure that has yielded tissue, blood or other bodily fluids presently in the archive but who has not yet been approached to participate is also eligible.

Part B:

• Patients must be successfully registered to Part A of MSKCC IRB# 12-245
• Prior written approval for patient consent obtained from the Principal/Co-Principal Investigator of MSKCC IRB # 12-245.

Part C:

• Patient must be receiving ongoing care at MSK or a CHERPn/ Alliance/Affiliate site or have previously consulted with an MSK physician.
• Patient must have successfully consented to Part A of this study.

Part D:

• Patients with no personal cancer history at increased risk for cancer development due to family history, molecular cancer marker, know carrier status of a gene associated with increased cancer risk or prior/ongoing environmental exposures or lifestyle factors.

Exclusion Criteria

All Parts:

• Unwilling or unable to provide informed consent.

Part C:

• All patients consenting to Part A are eligible to consent to 12-245, Part C. Most patients will be eligible to receive clinical germline testing with return of results to the patient/health care providers. However, several exclusion criteria apply and are outlined below

  1. Solid tumor patients: Secondary germline analysis using BAM files generated for MSK-IMPACT testing is not an option for patients with solid tumors and an acute or chronic hematologic neoplasm that would preclude the use of blood or saliva as a source of germline DNA. Such patient may be eligible for primary germline testing using a non-blood source of germline DNA as per standard clinical guidelines. Solid tumor patients who have had an allogenic bone marrow/stem cell transplant will only be considered eligible for germline testing under Part C if a sample adequate for germline testing had previously been collected prior to allogenic bone marrow/stem cell transplant.
  2. Hematologic cancer patients: For patients with a hematopoietic neoplasm, germline testing may be an option under Part C using nail clippings or another non-blood source of DNA as per standard clinical practice. For patients who have had an allogenic bone marrow/stem cell transplant, clinical germline testing will only be considered under Part C if a sample adequate for germline testing had previously been collected prior to Allogenic bone marrow/stem cell transplant.

Part D

• Exclusion criteria are same as those for Part C outlined above.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
frequency of "actionable" oncogenic mutations	1 year	"Actionable" mutations will be defined as either 1) a mutation shown to predict for sensitivity or resistance to a drug FDA approved for use in another cancer indication or 2) a mutation which predicts for sensitivity or resistance in preclinical models to an investigational class of drugs.

Secondary Outcome Measures

Name	Time	Method
To determine the impact of molecular profiling results performed in the CLIA-setting on the treatment of patients.	1 year	The Bioinformatics Core will assist in interpreting data generated by next-generation sequencing techniques such as WES and WGS.
To explore the genetic mechanisms of tumorigenesis	2	in a subset of specimens with no identifiable culpritic genomic alterations on highly-multiplexed next-generation sequencing (i.e.: IMPACT testing) by using even more comprehensive investigational profiling techniques such as whole exome sequencing, whole genome sequencing or RNA sequencing
interrogate the mechanisms	1 year	underlying response and resistance (de-novo and acquired) to targeted therapy. The research assay(s) used to accomplish this will vary based on the clinical setting and tissue available and may include Sanger, Sequenom, MiSeq, exon-capture (ie: IMPACT), whole exome, and whole genome sequencing.

Trial Locations

Locations (19)

St. Vincent (Data Collection Only); 🇺🇸 Bridgeport, Connecticut, United States

Hartford Healthcare Cancer Institute @ Hartford Hospital; 🇺🇸 Hartford, Connecticut, United States

Norwalk Hospital; 🇺🇸 Norwalk, Connecticut, United States

Baptist Alliance MCI; 🇺🇸 Miami, Florida, United States

Memorial Sloan Kettering Basking Ridge; 🇺🇸 Basking Ridge, New Jersey, United States

Memorial Sloan Kettering Monmouth; 🇺🇸 Middletown, New Jersey, United States

Memorial Sloan Kettering Bergen; 🇺🇸 Montvale, New Jersey, United States

Kings County Hopsital Center; 🇺🇸 Brooklyn, New York, United States

Memorial Sloan Kettering Cancer Commack; 🇺🇸 Commack, New York, United States

Memorial Sloan Kettering Westchester; 🇺🇸 Harrison, New York, United States

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