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Genomic Structural Variation in Cancer Susceptibility

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ClinicalTrials.gov Identifier: NCT00996710
Recruitment Status : Enrolling by invitation
First Posted : October 16, 2009
Last Update Posted : October 26, 2017
Information provided by (Responsible Party):

Study Description
Brief 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.

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.

Condition or disease
Breast Cancer Colon Cancer Germ Cell Cancer Neuroblastoma Rectal Cancer Sarcoma

Study Design

Study Type : Observational
Estimated Enrollment : 1850 participants
Observational Model: Family-Based
Time Perspective: Other
Official Title: Genomic Structural Variation in Cancer Susceptibility
Study Start Date : October 2009
Estimated Primary Completion Date : October 2018
Estimated Study Completion Date : October 2018

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :
  1. 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 ]

Secondary Outcome Measures :
  1. 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 ]
    and mechanisms of Mendelian inheritance, such as autosomal recessive, autosomal dominant, and X-linked, which upon initial ascertainment may be difficult to decipher.

Biospecimen Retention:   Samples With DNA
blood or saliva sample

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
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.

Inclusion Criteria:

  • 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
    • 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.

Exclusion Criteria:

  • Known genetic mutation in proband or a family history that is indicative of hereditary cancer susceptibility.
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00996710

United States, New York
Memorial Sloan Kettering Cancer Center
New York, New York, United States, 10065
Sponsors and Collaborators
Memorial Sloan Kettering Cancer Center
Cold Spring Harbor Laboratory
Coriell Institute
Weill Medical College of Cornell University
University of Washington Center for Mendelian Genomics
Principal Investigator: Zsofia Stadler, MD Memorial Sloan Kettering Cancer Center
More Information

Additional Information:
Responsible Party: Memorial Sloan Kettering Cancer Center
ClinicalTrials.gov Identifier: NCT00996710     History of Changes
Other Study ID Numbers: 09-068
First Posted: October 16, 2009    Key Record Dates
Last Update Posted: October 26, 2017
Last Verified: October 2017

Keywords provided by Memorial Sloan Kettering Cancer Center:

Additional relevant MeSH terms:
Disease Susceptibility
Neoplasms, Germ Cell and Embryonal
Neuroectodermal Tumors, Primitive, Peripheral
Neuroectodermal Tumors, Primitive
Neoplasms, Neuroepithelial
Neuroectodermal Tumors
Neoplasms by Histologic Type
Neoplasms, Glandular and Epithelial
Neoplasms, Nerve Tissue
Disease Attributes
Pathologic Processes