Breast CancerNCT00996710
Genomic Structural Variation in Cancer Susceptibility
An observational study of Breast Cancer and Colon Cancer, run by Memorial Sloan Kettering Cancer Center at 1 site in United States.
Trial summary
This study will look for new types of gene changes that may be related to cancer in some patients. Some gene changes (mutations) are passed on from parents to offspring (child). Other gene changes are new and are seen for the first time in a child. They are not seen in the parent. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Breast Cancer, Colon Cancer, Germ Cell Cancer
- How many people
- 1,275 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 2009to Oct 2026
- 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
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: The majority of eligible probands will be identified prospectively through the clinics of the Clinical Genetics, Medical Oncology and Pediatric Oncology Services of MSKCC by the patient's physician, the protocol investigator, or a research team member.
Who may be able to join
- Proband must have living unaffected biologic mother and father available and eligible for participation in the study with one of the following (both incident and prevalent cases will be collected):
- Colorectal cancer diagnosed at or under the age of 50.
- Breast cancer diagnosed at or under the age of 45.
- Germ cell tumor diagnosed at or under the age of 40.
- Pediatric cancer of any type diagnosed at or under the age of 21
- Adult cancer or pre-neoplastic condition of any type diagnosed at or under the age of 40
Show all 13Show fewer
- Cancer at any age in 2 or more siblings suggestive of a genetic etiology, such as brothers with testicular germ cell tumor or sisters with breast cancer and ovarian cancer
- Parents:
- Must be the biologic mother and biologic father of affected proband.
- Must have (by self-report) no history of cancer other than non-melanomatous skin cancer or cervical cancer in situ except in the case of inclusion criteria #6..
- In certain clinical situations, parent(s) with cancer may be included at the discretion of the Principal Investigator, if the Principal Investigator deems that the etiology of cancer in the parent(s) and proband are biologically unrelated.
- Sibling(s):
- Must be age 18 or older and have same biologic parents as proband.
Who cannot join
- Known genetic mutation in proband or a family history that is indicative of hereditary cancer susceptibility.
Trial locations and contacts
1 site in 1 country.
United States1 site
Memorial Sloan Kettering Cancer Center
New York, New York, 10065
About this study
This study will look for new types of gene changes that may be related to cancer in some patients. Some gene changes (mutations) are passed on from parents to offspring (child). Other gene changes are new and are seen for the first time in a child. They are not seen in the parent.
Some of these gene changes may cause cancers in the offspring. We will look for gene changes by studying patients with cancer their parents and family members without cancer. In this study, we will be able to find gene changes that occur in the cancer patient but not in the rest of the family. Knowing the role that new gene changes play in cancer risk may help us find people at a higher risk of getting cancer.
- Conditions
- Breast Cancer, Colon Cancer, Germ Cell Cancer, Neuroblastoma, Rectal Cancer, Sarcoma
- Keywords
- Genome-wide, 09-068
- Medical subject headings
- Breast Neoplasms, Colonic Neoplasms, Neoplasms, Germ Cell and Embryonal, Neuroblastoma, Rectal Neoplasms, Sarcoma
What is being measured
The primary outcome is the main question the study is designed to answer.
To determine the frequency of de novo germline copy number variants (CNVs) in cancer affected probands using an ascertainment of "trios" consisting of cancer patients and their unaffected biologic parents
Measured: 2 years
Secondary outcomes (1)
To explore the role of germline homozygosity in cancer susceptibility by determining the frequency and length of autozygous regions in patients with cancer
and mechanisms of Mendelian inheritance, such as autosomal recessive, autosomal dominant, and X-linked, which upon initial ascertainment may be difficult to decipher.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Oct 2009 (estimated)
- Study startOct 2009
- Primary completionOct 2026 (estimated)
- Study completionOct 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Breast CancerStudies of the same condition, open and under way.
- More trials run by Memorial Sloan Kettering Cancer CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
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
- Family based
- Time perspective
- Other
- Enrolment
- 1,275 participants (actual)
Sponsor and investigators
- Lead sponsor
- Memorial Sloan Kettering Cancer Center
- Sponsor type
- University, hospital or other
- Collaborators
- Cold Spring Harbor Laboratory, Coriell Institute, Weill Medical College of Cornell University, University of Washington Center for Mendelian Genomics
- Responsible party
- Sponsor
- Investigators
- Zsofia Stadler, MD, Principal investigator, Memorial Sloan Kettering Cancer Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00996710
- Sponsor's protocol ID
- 09-068
- Status last verified
- Nov 2025
- First submitted
- 15 Oct 2009
- Last updated
- 4 Nov 2025
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genomic Structural Variation in Cancer Susceptibility
- ClinicalTrials.gov ID
- NCT00996710
- Acronym / sponsor ID
- 09-068
- Conditions
- Breast Cancer, Colon Cancer, Germ Cell Cancer, Neuroblastoma, Rectal Cancer, Sarcoma
- Keywords
- Genome-wide, 09-068
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 1,275 participants (actual)
- Lead sponsor
- Memorial Sloan Kettering Cancer CenterUniversity, hospital or other
- Collaborators
- Cold Spring Harbor Laboratory, Coriell Institute, Weill Medical College of Cornell University, University of Washington Center for Mendelian Genomics
- Study start
- Oct 2009
- Primary completion
- Oct 2026 (estimated)
- Study completion
- Oct 2026 (estimated)
- First posted
- 16 Oct 2009 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study will look for new types of gene changes that may be related to cancer in some patients. Some gene changes (mutations) are passed on from parents to offspring (child). Other gene changes are new and are seen for the first time in a child. They are not seen in the parent.
Some of these gene changes may cause cancers in the offspring. We will look for gene changes by studying patients with cancer their parents and family members without cancer. In this study, we will be able to find gene changes that occur in the cancer patient but not in the rest of the family. Knowing the role that new gene changes play in cancer risk may help us find people at a higher risk of getting cancer.
Study design
- Observational model
- Family based
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The majority of eligible probands will be identified prospectively through the clinics of the Clinical Genetics, Medical Oncology and Pediatric Oncology Services of MSKCC by the patient's physician, the protocol investigator, or a research team member.
Key inclusion criteria (13 listed)
- Proband must have living unaffected biologic mother and father available and eligible for participation in the study with one of the following (both incident and prevalent cases will be collected):
- Parents:
- Sibling(s):
Key exclusion criteria (1 listed)
- Known genetic mutation in proband or a family history that is indicative of hereditary cancer susceptibility.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To determine the frequency of de novo germline copy number variants (CNVs) in cancer affected probands using an ascertainment of "trios" consisting of cancer patients and their unaffected biologic parents
Time frame: 2 years
1 secondary outcome
To explore the role of germline homozygosity in cancer susceptibility by determining the frequency and length of autozygous regions in patients with cancer
Time frame: 2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Nov 2025.
- Memorial Sloan-Kettering Cancer CenterLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Zsofia Stadler, MD principal investigator
Memorial Sloan Kettering Cancer Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Breast Cancer and Colon Cancer, run by Memorial Sloan Kettering Cancer Center at 1 site 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 13 inclusion and 1 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: under way, not looking for participants, as of the sponsor's last update on 4 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To determine the frequency of de novo germline copy number variants (CNVs) in cancer affected probands using an ascertainment of "trios" consisting of cancer patients and their unaffected biologic parents (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 4 Nov 2025.