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

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial examines the link between specific genetic markers and various cancers, such as those affecting the colon, breast, and lungs. Researchers aim to determine if certain genetic patterns are associated with these cancers, potentially aiding future understanding and treatment. The study employs a PCR/PCR/LDR Strategy, a genetic testing method, to analyze these patterns. Participants diagnosed with these cancers who have provided blood samples, particularly those with multiple cancer diagnoses or Ashkenazi Jewish ancestry, may be well-suited for this study. As an unphased trial, it offers a unique opportunity to contribute to groundbreaking research that could shape future cancer treatments.

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 prior data suggests that the PCR/PCR/LDR Strategy is safe?

Research has shown that the PCR/PCR/LDR method is generally well-tolerated by patients. This technique detects small DNA changes, such as mutations, with high accuracy. Studies have found it effective without harming participants.

The technology identifies specific DNA markers in blood samples. It requires no medications or physical treatments, so no direct side effects have been reported. This makes it a safer choice for participants concerned about negative effects. Essentially, it is a lab test that examines blood for possible cancer-related changes without affecting health. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about the PCR/PCR/LDR strategy for cancer genetic screening because it offers a more precise method of detecting genetic markers associated with cancer risk. Unlike traditional diagnostic methods that may rely on broader genetic testing or imaging, this approach focuses on identifying specific genetic mutations linked to various cancers, such as colon, breast, and lung cancers. This targeted technique could lead to earlier and more accurate detection, helping individuals understand their cancer risk better and enabling more personalized and timely interventions. By honing in on precise genetic changes, this strategy aims to improve the accuracy of cancer screening and potentially revolutionize how we assess cancer risk.

What evidence suggests that the PCR/PCR/LDR Strategy is effective for genetic screening in cancer?

Research has shown that a method called PCR/PCR/LDR can detect cancer-related changes in DNA even when few cancer cells are mixed with normal cells. PCR, a lab technique, creates many copies of DNA to identify small genetic changes linked to cancer. Some studies have found that it can detect changes in genes like BRCA1 and BRCA2, which increase cancer risk. This method may be particularly useful for detecting cancers such as prostate and breast cancer. By identifying these changes early, PCR methods can help detect cancer sooner, potentially leading to better outcomes. Participants in this trial will be compared to controls, including volunteer blood donors and normal volunteers, to evaluate the effectiveness of the PCR/PCR/LDR strategy in detecting genetic changes associated with cancer. ^{1 6 7 8 9}

Who Is on the Research Team?

Kenneth Offit, MD, MPH

Principal Investigator

Memorial Sloan Kettering Cancer Center

Are You a Good Fit for This Trial?

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 for a Trial Participant

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

What Are the Treatments Tested in This Trial?

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.

How Is the Trial Designed?

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+

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC7160051/

Single-molecule detection of cancer mutations using a novel ... We report a new PCR-LDR-qPCR assay capable of detecting point mutations at a single-molecule resolution in the presence of an excess of wild-type DNA.

2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11100444/

Molecular methods in cancer diagnostics: a short review - PMC When DNA anomalies are sufficiently consistent, PCR has been effectively used to detect low quantities of tumor cells in haematological ...

3. jmcp.org jmcp.org/doi/10.18553/jmcp.2024.24137

Impact of next-generation sequencing vs polymerase chain ... This study shows that patients with metastatic non–small cell lung cancer tested with NGS have lower costs compared with those tested with PCR.

4. mdpi.com mdpi.com/1422-0067/26/14/6904

Droplet Digital PCR Improves Detection of BRCA1/2 Copy ... This study therefore aimed to evaluate BRCA1/2 CNVs in advanced prostate cancer patients using droplet digital PCR (ddPCR) and compare the results with MLPA.

5. oncoscience.us oncoscience.us/news/pr/genetic-testing-offers-a-cost-effective-tool-for-early-prostate-cancer-detection/

Genetic Testing Offers a Cost-Effective Tool for Early ... They found that low-cost genetic testing methods can effectively detect BRCA2 and HOXB13 mutations, which are strongly linked to increased ...

6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC6995062/

Prediction of blood-based biomarkers and subsequent ... Our results indicate that the PCR-LDR-qPCR assay is capable of detecting ~ 30 methylated copies of each of 3 BrCa-specific CpG markers, when mixed with excess ...

7. onlinelibrary.wiley.com onlinelibrary.wiley.com/doi/abs/10.1002/humu.23987

Single‐molecule detection of cancer mutations using a ... We report a new PCR-LDR-qPCR assay capable of detecting point mutations at a single-molecule resolution in the presence of an excess of wild-type DNA.

8. oncotarget.com oncotarget.com/article/11664/text/

Predictive value of XPG rs2296147T>C polymorphism on ... Several genotyping methods were used in the enrolled studies, including the polymerase chain reaction (PCR)-ligase detection reaction (PCR-LDR) ...

9. mdpi.com mdpi.com/2073-4409/12/18/2266

Circulating Tumor Cell Subpopulations Predict Treatment ... Screening for KRAS mutations was performed with a PCR/ligase detection reaction (PCR/LDR) assay (Figure 6B). An advantage of PCR/LDR is the fact that it can ...