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Solid TumorsNCT01775072

Genomic Profiling in Cancer Patients

An observational study of Solid Tumors and Hematologic Cancers, run by Memorial Sloan Kettering Cancer Center at 18 sites in United States.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
Search all trials

Trial 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. Read more about this study

Who is it for?
Any age
Conditions the study is for
Solid Tumors, Hematologic Cancers
What is being tested?
molecular profiling of tumors and Clinical Germline Analysis
How many people
200 participants
Where
18 sitesUnited States
Study dates
Jan 2013to Jan 2027
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Any age
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Study population: Patients with solid or hematologic cancers who may be and considered potential candidates for a therapeutic protocol will be recruited to Part A of this study. Enrollment to therapeutic clinical trials will not be contingent on enrollment in this protocol. Part B: Research Collection Cohort Patients potentially appropriate will be identified by their treating physician in each participating Disease Management Team.

Who may be able to join

  • 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
Show all 12Show fewer
  • 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.

Who cannot join

  • 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
  • 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.
  • 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.

Trial locations and contacts

18 sites in 1 country. Contact the study team or a site near you to ask about taking part.

David Solit, MD contact

646-888-2641

Zsofia Stadler, MD contact

646-888-4039

18 sites in 1 country

United States18 sites, 18 recruiting

  • Lehigh Valley Health Network

    Allentown, Pennsylvania, 18103

    Suresh Nair, MD, 610-402-7880

    Recruiting

  • Memorial Sloan Kettering Basking Ridge

    Basking Ridge, New Jersey, 07920

    David Solit, MD, 646-888-2641

    Recruiting

  • St. Vincent (Data Collection Only)

    Bridgeport, Connecticut, 06606

    Christopher Iannuzzi, MD, 203-576-6000

    Not yet recruiting

  • Kings County Hopsital Center

    Brooklyn, New York, 11203

    Jason Gonsky, MD, 718-245-2847

    Recruiting

  • Memorial Sloan Kettering Cancer Commack

    Commack, New York, 11725

    David Solit, MD, 646-888-2641

    Recruiting

  • Memorial Sloan Kettering Westchester

    Harrison, New York, 10604

    David Solit, MD, 646-888-2641

    Recruiting

  • Hartford Healthcare Cancer Institute @ Hartford Hospital

    Hartford, Connecticut, 06102

    Andrew Salner, MD, 860-972-2803

    Not yet recruiting

  • Queens Cancer Center of Queens Hospital

    Jamaica, New York, 11432

    Debra Ferman, MD, 718-579-6021

    Recruiting

  • Baptist Alliance MCI

    Miami, Florida, 33143

    John Diaz, MD, 786-596-2000

    Recruiting

  • Memorial Sloan Kettering Monmouth

    Middletown, New Jersey, 07748

    David Solit, MD, 646-888-2641

    Recruiting

  • Memorial Sloan Kettering Bergen

    Montvale, New Jersey, 07645

    David Solit, MD, 646-888-2641

    Recruiting

  • Metropolitan Hospital Center

    New York, New York, 10029

    Anitha Srinivasan, MD, 212-423-6262

    Recruiting

  • Ralph Lauren Center for Cancer Care and Prevention

    New York, New York, 10035

    Lewis P. Kampel, MD, 646-422-4474

    Recruiting

  • Memorial Sloan Kettering Cancer Center

    New York, New York, 10065

    David Solit, MD, 646-888-2641

    Zsofia Stadler, MD, 646-888-4039

    Recruiting

  • Norwalk Hospital

    Norwalk, Connecticut, 06850

    Linda Vahdat, MD, 203-845-4811

    Recruiting

  • Medisys Health Network (Data Collection Only)

    Richmond Hill, New York, 11418

    Rosa Nouvini, MD, 718-206-6000

    Recruiting

  • NYC Health & Hospitals /Lincoln Medical Center

    The Bronx, New York, 10451

    Monica Reddy Muppidi, MD, 718-579-4977

    Monica Reddy Muppidi, MD

    Recruiting

  • Memorial Sloan Kettering Nassau

    Uniondale, New York, 11553

    David Solit, MD, 646-888-2641

    Recruiting

Other trials in United States

About this study

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.

Being tested
molecular profiling of tumors, Clinical Germline Analysis
Keywords
tissue, blood, salvia, buccal swab, Genomic Profiling, Solid Tumors, hematologic cancer, Clinical Assay, Research Assay, 12-245
Medical subject headings
Hematologic Neoplasms

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • molecular profiling of tumorsGenetic

    Part A is the molecular profiling of tumors. No new tumor biopsies will be performed in the context of Part A. If a pt does have a surgery or tumor biopsy , leftover tissue (or an additional core) from this procedure may be used for molecular profiling. Clinical Assay(s): This testing will be performed in the CLIA-certified Molecular Diagnostics Service laboratory. Research Assay(s): This protocol will also be used as a platform to pilot the use of investigational "next-generation" profiling technologies .including whole exome sequencing, whole genome sequencing RNA sequencing cell-free tumor DNA/RNA sequencing, proteomics, \& others. To confirm the findings obtained on these assays using an orthogonal assay, additional sequencing such as Sanger,Sequenom, MiSeq or IMPACT testing may be utilized in either the CLIA or non-CLIA setting Part B: DTC Cohort Pts successfully registered to Part B of this study will be eligible for minimal risk collection \& research biopsies.

  • Clinical Germline AnalysisGenetic

    Part C: Clinical Germline Analysis Participants who have donated a matched normal peripheral blood sample for comparison to somatic sequence will be offered the opportunity to have that germline DNA sample analyzed for the presence of deleterious or likely deleterious mutations in genes on the MSK-IMPACT panel that are known to be linked to inherited susceptibility or that are included on consensus lists of genes that should undergo secondary analysis (e.g. the "ACMG list").

    Part D: Germline Profiling for Individuals at Elevated Cancer Risk

Study groups in NCT01775072
Study groupRoleWhat they receive
Pts with solid tumorsPatients must have solid or hematologic cancer. for treatment on a . Patients must have undergone pathologic confirmation of their tumor at MSKCC and have either: 1) archival tissue available for analysis, 2) have fresh tissue collection planned as routine standard of care biopsy or part of a research biopsy under another clinical trial(or peripheral blood / bone marrow collection in the case of hematologic cancers) outside of the context of this protocol, or 3)archival tissue .available at an outside facility. For prospective genotyping tissue specimens from the primary site, a metastasis or recurrence will be used based upon the availability and quality of tissue.
Receives: Genetic: molecular profiling of tumors; Genetic: Clinical Germline Analysis

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. frequency of "actionable" oncogenic mutations

    "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.

    Measured: 1 year

Secondary outcomes (3)

  1. To determine the impact of molecular profiling results performed in the CLIA-setting on the treatment of patients.

    The Bioinformatics Core will assist in interpreting data generated by next-generation sequencing techniques such as WES and WGS.

    Measured: 1 year

  2. interrogate the mechanisms

    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.

    Measured: 1 year

  3. To explore the genetic mechanisms of tumorigenesis

    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

    Measured: 2

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted24 Jan 2013 (estimated)
  2. Study startJan 2013
  3. Primary completionJan 2027 (estimated)
  4. Study completionJan 2027 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
200 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT01775072
Sponsor's protocol ID
12-245
Status last verified
Sep 2026
First submitted
21 Jan 2013
Last updated
24 Sep 2026
Results posted
No

Publications

  • Borio M, Sheehan M, Katabi N, Sacca RE, Maio A, Kemel Y, Khurram A, Mandelker D, Birsoy O, Solit D, Carlo MI, Liu Y, Abbass M, Banaszak L, Kesserwan C, Murciano-Goroff YR, Latham A, Offit K, Wong RJ, Ghossein R, Boucai L, Tuttle M, Stadler ZK. Prevalence of Germline Pathogenic RET Variants in a Pan-Cancer Patient Population. JCO Precis Oncol. 2026 May;10(5):e2500737. doi: 10.1200/PO-25-00737. Epub 2026 May 22.

    PubMed 42172561

  • Gelfer R, Gulla A, Kalvin HL, Song Y, Harding J, Abou-Alfa GK, O'Reilly EM, Park W, Chandwani R, Wei A, Kingham P, Drebin J, Balachandran V, D'Angelica M, Soares K, Gonen M, Jarnagin WR. KRAS Variants Are Associated With Survival Outcomes and Genomic Alterations in Biliary Tract Cancers. JCO Precis Oncol. 2024 Dec;8:e2400263. doi: 10.1200/PO.24.00263. Epub 2024 Dec 6.

    PubMed 39642327

  • Mondaca S, Walch H, Sepulveda S, Schultz N, Munoz G, Yaqubie A, Macanas P, Pareja C, Garcia P, Chatila W, Nervi B, Li B, Harding JJ, Viviani P, Roa JC, Abou-Alfa GK. Clinical and Genomic Characterization of ERBB2-Altered Gallbladder Cancer: Exploring Differences Between an American and a Chilean Cohort. JCO Glob Oncol. 2024 Oct;10:e2400090. doi: 10.1200/GO.24.00090. Epub 2024 Oct 10.

    PubMed 39388662

  • Seldon CS, Meiyappan K, Hoffman H, Guo JA, Goel N, Hwang WL, Nguyen PL, Mahal BA, Alshalalfa M. Genomic alterations predictive of poor clinical outcomes in pan-cancer. Oncotarget. 2022 Sep 28;13:1069-1077. doi: 10.18632/oncotarget.28276. eCollection 2022.

    PubMed 36187555

  • Rosenzweig J, Pillai PM, Prockop S, Benayed R, Eidenschink Brodersen L, Najfeld V, Loken MR, Zhang Y, Shukla N. Acute myeloid leukemia with an MN1-ETV6 fusion in a young child with Down syndrome. Cold Spring Harb Mol Case Stud. 2022 Apr 28;8(3):a006167. doi: 10.1101/mcs.a006167. Print 2022 Apr.

    PubMed 35483876

  • Lin AL, Tabar V, Young RJ, Cohen M, Cuaron J, Yang TJ, Rosenblum M, Rudneva VA, Geer EB, Bodei L. Synergism of Checkpoint Inhibitors and Peptide Receptor Radionuclide Therapy in the Treatment of Pituitary Carcinoma. J Endocr Soc. 2021 Aug 7;5(10):bvab133. doi: 10.1210/jendso/bvab133. eCollection 2021 Oct 1.

    PubMed 34466766

  • Fiala EM, Jayakumaran G, Mauguen A, Kennedy JA, Bouvier N, Kemel Y, Fleischut MH, Maio A, Salo-Mullen EE, Sheehan M, Arnold AG, Latham A, Carlo MI, Cadoo K, Murkherjee S, Slotkin EK, Trippett T, Glade Bender J, Meyers PA, Wexler L, Dela Cruz FS, Cheung NK, Basu E, Kentsis A, Ortiz M, Francis JH, Dunkel IJ, Khakoo Y, Gilheeney S, Farouk Sait S, Forlenza CJ, Sulis M, Karajannis M, Modak S, Gerstle JT, Heaton TE, Roberts S, Yang C, Jairam S, Vijai J, Topka S, Friedman DN, Stadler ZK, Robson M, Berger MF, Schultz N, Ladanyi M, O'Reilly RJ, Abramson DH, Ceyhan-Birsoy O, Zhang L, Mandelker D, Shukla NN, Kung AL, Offit K, Zehir A, Walsh MF. Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors. Nat Cancer. 2021 Mar;2:357-365. doi: 10.1038/s43018-021-00172-1. Epub 2021 Feb 15.

    PubMed 34308366

  • Stadler ZK, Maio A, Chakravarty D, Kemel Y, Sheehan M, Salo-Mullen E, Tkachuk K, Fong CJ, Nguyen B, Erakky A, Cadoo K, Liu Y, Carlo MI, Latham A, Zhang H, Kundra R, Smith S, Galle J, Aghajanian C, Abu-Rustum N, Varghese A, O'Reilly EM, Morris M, Abida W, Walsh M, Drilon A, Jayakumaran G, Zehir A, Ladanyi M, Ceyhan-Birsoy O, Solit DB, Schultz N, Berger MF, Mandelker D, Diaz LA Jr, Offit K, Robson ME. Therapeutic Implications of Germline Testing in Patients With Advanced Cancers. J Clin Oncol. 2021 Aug 20;39(24):2698-2709. doi: 10.1200/JCO.20.03661. Epub 2021 Jun 16.

    PubMed 34133209

  • Diolaiti D, Dela Cruz FS, Gundem G, Bouvier N, Boulad M, Zhang Y, Chou AJ, Dunkel IJ, Sanghvi R, Shah M, Geiger H, Rahman S, Felice V, Wrzeszczynski KO, Darnell RB, Antonescu CR, French CA, Papaemmanuil E, Kung AL, Shukla N. A recurrent novel MGA-NUTM1 fusion identifies a new subtype of high-grade spindle cell sarcoma. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003194. doi: 10.1101/mcs.a003194. Print 2018 Dec.

    PubMed 30552129

  • Forlenza CJ, Zhang Y, Yao J, Benayed R, Steinherz P, Ramaswamy K, Kessel R, Roshal M, Shukla N. A case of KMT2A-SEPT9 fusion-associated acute megakaryoblastic leukemia. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003426. doi: 10.1101/mcs.a003426. Print 2018 Dec.

    PubMed 30455225

  • Boucai L, Falcone J, Ukena J, Coombs CC, Zehir A, Ptashkin R, Berger MF, Levine RL, Fagin JA. Radioactive Iodine-Related Clonal Hematopoiesis in Thyroid Cancer Is Common and Associated With Decreased Survival. J Clin Endocrinol Metab. 2018 Nov 1;103(11):4216-4223. doi: 10.1210/jc.2018-00803.

    PubMed 30137527

  • Schram AM, Reales D, Galle J, Cambria R, Durany R, Feldman D, Sherman E, Rosenberg J, D'Andrea G, Baxi S, Janjigian Y, Tap W, Dickler M, Baselga J, Taylor BS, Chakravarty D, Gao J, Schultz N, Solit DB, Berger MF, Hyman DM. Oncologist use and perception of large panel next-generation tumor sequencing. Ann Oncol. 2017 Sep 1;28(9):2298-2304. doi: 10.1093/annonc/mdx294.

    PubMed 28911072

  • Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila ME, Benayed R, Shah R, Yu K, Bajorin DF, Coleman JA, Leach SD, Lowery MA, Garcia-Aguilar J, Kantoff PW, Sawyers CL, Dickler MN, Saltz L, Motzer RJ, O'Reilly EM, Scher HI, Baselga J, Klimstra DS, Solit DB, Hyman DM, Berger MF, Ladanyi M, Robson ME, Offit K. Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137.

    PubMed 28873162

Questions about this trial

What is this clinical trial studying?

An observational study of Solid Tumors and Hematologic Cancers, run by Memorial Sloan Kettering Cancer Center at 18 sites in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 12 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 24 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 18 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact David Solit, MD (646-888-2641), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

frequency of "actionable" oncogenic mutations (time frame: 1 year). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT01775072, which also lists 13 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Sep 2026.

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