Genetic Screening for Cancer

Overseen By Kenneth Offit, MD, MPH

Age: Any Age

Sex: Any

Trial Phase: Academic

Sponsor: Memorial Sloan Kettering Cancer Center

Disqualifiers: Non-cancer patients, others

Compensation: Varies

Number of Visits: Unknown

21081 Participants Needed

Trial Summary

What is the purpose of this trial?

The basic premise of this research proposal is to determine whether there is any significant association between germline polymorphisms and cancers of colon, bladder, breast, testicular, prostate, ovaries, kidney, lung, lymphoid organs, and head and neck. This is an exploratory study designed to generate hypotheses for further research.

Do I need to stop my current medications for the trial?

The trial information does not specify whether you need to stop taking your current medications.

What data supports the effectiveness of the PCR/PCR/LDR treatment for cancer?

The research highlights that using advanced PCR techniques, like COLD-PCR, can significantly improve the detection of genetic mutations in cancer, making genetic testing more sensitive and accurate. Additionally, droplet digital PCR (ddPCR) is noted for its high sensitivity and reliability in identifying genetic changes in cancer, which supports the potential effectiveness of PCR-based strategies in cancer treatment. ^{1 2 3 4 5}

Is genetic screening for cancer safe for humans?

Genetic screening for cancer, including methods like PCR and MLPA, is generally considered safe for humans. These techniques are used to analyze DNA for mutations that may increase cancer risk, and they do not involve any invasive procedures or treatments that could harm participants. ^{3 6 7 8 9}

How does genetic screening for cancer differ from other treatments?

Genetic screening for cancer is unique because it uses advanced sequencing technologies to detect mutations in genes like BRCA1 and BRCA2, which can indicate a higher risk of developing certain cancers. This approach focuses on identifying genetic predispositions rather than treating existing cancer, making it a preventive strategy rather than a direct treatment. ^{10 11 12 13 14}

Research Team

Kenneth Offit, MD, MPH

Principal Investigator

Memorial Sloan Kettering Cancer Center

Eligibility Criteria

This trial is for Ashkenazi Jewish individuals with a confirmed cancer diagnosis, including kidney, breast, colon, prostate, lung, ovarian, bladder cancers or lymphoid malignancies. Eligible participants must have donated a blood sample at MSKCC and can have multiple diagnoses of the same cancer type.

Inclusion Criteria

Samples ascertained as part of protocol 98-024A(1) are also eligible for ascertainment in this study.

I am of Ashkenazi Jewish descent and have been diagnosed with cancer.

I have cancer in one of the specified organs and have given a blood sample at MSKCC.

Exclusion Criteria

I do not have a confirmed diagnosis of cancer in specific organs or lymphoma for the AMDeC study part.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Sample Collection

DNA is obtained from residual material from routine diagnostic blood tests

1-2 weeks

Genetic Analysis

Testing for the frequency of candidate low-penetrance cancer susceptibility alleles

4-8 weeks

Follow-up

Participants are monitored for safety and effectiveness after genetic analysis

4 weeks

Treatment Details

Interventions

• PCR/PCR/LDR Strategy

Trial Overview The study is exploring if there's a link between inherited genetic variations (germline polymorphisms) and various cancers using PCR/PCR/LDR strategy to analyze DNA. It aims to generate hypotheses for future research rather than test a treatment.

Participant Groups

Group I: 1 Active Control 1 Intervention

All incident second primary cancers of colon, breast, bladder, kidney, prostate, ovarian cancer lung cancer and lymphoid cancer diagnosed between 1999 and present will be included in the secondary design to compare second primary cancer "cases" and first primary "controls".

Group II: 2 Placebo Group 1 Intervention

Controls will be volunteer blood donors from the New York Blood Center as well as normal volunteers from other AMDeC sites.

Who Is Running the Clinical Trial?

Memorial Sloan Kettering Cancer Center

Lead Sponsor

Trials

1,998

Recruited

602,000+

Weill Medical College of Cornell University

Collaborator

Trials

1,103

Recruited

1,157,000+

Columbia University

Collaborator

Trials

1,529

Recruited

2,832,000+

Icahn School of Medicine at Mount Sinai

Collaborator

Trials

933

Recruited

579,000+

References

1. New Zealand pubmed.ncbi.nlm.nih.gov

Current and Emerging Applications of Droplet Digital PCR in Oncology. [2022]

2. England pubmed.ncbi.nlm.nih.gov

Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing. [2023]

3. England pubmed.ncbi.nlm.nih.gov

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. [2022]

4. United States pubmed.ncbi.nlm.nih.gov

Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing. [2019]

5. Switzerland pubmed.ncbi.nlm.nih.gov

A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis. [2023]

6. United States pubmed.ncbi.nlm.nih.gov

Effects of Cancer Genetic Panel Testing on at-Risk Individuals. [2021]

7. Germany pubmed.ncbi.nlm.nih.gov

A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC. [2019]

8. Japan pubmed.ncbi.nlm.nih.gov

Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition. [2023]

9. Switzerland pubmed.ncbi.nlm.nih.gov

Pioneering BRCA1/2 Point-Of-Care Testing for Integration of Germline and Tumor Genetics in Breast Cancer Risk Management: A Vision for the Future of Translational Pharmacogenomics. [2021]

10. United States pubmed.ncbi.nlm.nih.gov

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing. [2012]

11. United States pubmed.ncbi.nlm.nih.gov

Mutation detection in K-ras, BRCA1, BRCA2, and p53 using PCR/LDR and a universal DNA microarray. [2019]

12. Switzerland pubmed.ncbi.nlm.nih.gov

Detection of heterozygosity loss in microdissected fine needle aspiration specimens of breast carcinoma. [2018]

13. United States pubmed.ncbi.nlm.nih.gov

Whole genome amplification and molecular genetic analysis of DNA from paraffin-embedded prostate adenocarcinoma tumor tissue. [2007]

14. Netherlands pubmed.ncbi.nlm.nih.gov

Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing. [2021]