Genomic Structural Variation in Cancer Susceptibility

This study is enrolling participants by invitation only.
Sponsor:
Collaborators:
Cold Spring Harbor Laboratory
Coriell Institute
Weill Medical College of Cornell University
University of Washington Center for Mendelian Genomics
Information provided by (Responsible Party):
Memorial Sloan-Kettering Cancer Center
ClinicalTrials.gov Identifier:
NCT00996710
First received: October 15, 2009
Last updated: June 12, 2014
Last verified: June 2014

October 15, 2009
June 12, 2014
October 2009
October 2015   (final data collection date for 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 ] [ Designated as safety issue: No ]
Same as current
Complete list of historical versions of study NCT00996710 on ClinicalTrials.gov Archive Site
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 ] [ Designated as safety issue: No ]
and mechanisms of Mendelian inheritance, such as autosomal recessive, autosomal dominant, and X-linked, which upon initial ascertainment may be difficult to decipher.
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 ] [ Designated as safety issue: No ]
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Genomic Structural Variation in Cancer Susceptibility
Genomic Structural Variation in Cancer Susceptibility

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.

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Observational
Observational Model: Family-Based
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Retention:   Samples With DNA
Description:

blood or saliva sample

Non-Probability Sample

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.

  • Breast Cancer
  • Colon Cancer
  • Germ Cell Cancer
  • Neuroblastoma
  • Rectal Cancer
  • Sarcoma
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Enrolling by invitation
1250
October 2015
October 2015   (final data collection date for primary outcome measure)

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..
  • 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.
Both
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Yes
Contact information is only displayed when the study is recruiting subjects
United States
 
NCT00996710
09-068
Not Provided
Memorial Sloan-Kettering Cancer Center
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
Memorial Sloan-Kettering Cancer Center
June 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP