Genomic Structural Variation in Cancer Susceptibility

This study is enrolling participants by invitation only.
Cold Spring Harbor Laboratory
Coriell Institute
Weill Medical College of Cornell University
Information provided by (Responsible Party):
Memorial Sloan-Kettering Cancer Center Identifier:
First received: October 15, 2009
Last updated: January 20, 2014
Last verified: January 2014

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.

Breast Cancer
Colon Cancer
Germ Cell Cancer
Rectal Cancer

Study Type: Observational
Study Design: Observational Model: Family-Based
Official Title: Genomic Structural Variation in Cancer Susceptibility

Resource links provided by NLM:

Further study details as provided by Memorial Sloan-Kettering Cancer Center:

Primary Outcome Measures:
  • 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 ]

Secondary Outcome Measures:
  • 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.

Biospecimen Retention:   Samples With DNA

blood or saliva sample

Estimated Enrollment: 1250
Study Start Date: October 2009
Estimated Study Completion Date: October 2014
Estimated Primary Completion Date: October 2014 (Final data collection date for primary outcome measure)

Genders Eligible for Study:   Both
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..
  • 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
Please refer to this study by its identifier: 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
Principal Investigator: Zsofia Stadler, MD Memorial Sloan-Kettering Cancer Center
  More Information

Additional Information:
No publications provided

Responsible Party: Memorial Sloan-Kettering Cancer Center Identifier: NCT00996710     History of Changes
Other Study ID Numbers: 09-068
Study First Received: October 15, 2009
Last Updated: January 20, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by Memorial Sloan-Kettering Cancer Center:

Additional relevant MeSH terms:
Breast Neoplasms
Colonic Neoplasms
Rectal Neoplasms
Disease Susceptibility
Neoplasms, Germ Cell and Embryonal
Neoplasms by Site
Breast Diseases
Skin Diseases
Colorectal Neoplasms
Intestinal Neoplasms
Gastrointestinal Neoplasms
Digestive System Neoplasms
Digestive System Diseases
Gastrointestinal Diseases
Colonic Diseases
Intestinal Diseases
Rectal Diseases
Disease Attributes
Pathologic Processes
Neuroectodermal Tumors, Primitive, Peripheral
Neuroectodermal Tumors, Primitive
Neoplasms, Neuroepithelial
Neuroectodermal Tumors
Neoplasms by Histologic Type
Neoplasms, Glandular and Epithelial
Neoplasms, Nerve Tissue
Neoplasms, Connective and Soft Tissue processed this record on April 21, 2014