Genomic Structural Variation in Cancer Susceptibility

This study is enrolling participants by invitation only.

First Received: October 15, 2009 Last Updated: November 3, 2009 History of Changes

Sponsor:	Memorial Sloan-Kettering Cancer Center
Collaborators:	Cold Spring Harbor Laboratory Coriell Institute Weill Medical College of Cornell University
Information provided by:	Memorial Sloan-Kettering Cancer Center
ClinicalTrials.gov Identifier:	NCT00996710

Purpose

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 new gene changes may cause cancers in the offspring. We will look for these gene changes by studying both patients with cancer and their 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
Breast Cancer Colon Cancer Germ Cell Cancer Neuroblastoma Rectal Cancer Sarcoma

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

Resource links provided by NLM:

Genetics Home Reference related topics: breast cancer Help Me Understand Genetics

MedlinePlus related topics: Breast Cancer Cancer Neuroblastoma Soft Tissue Sarcoma

U.S. FDA Resources

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 ]

Biospecimen Retention: Samples With DNA

Biospecimen Description:

blood or saliva sample

Estimated Enrollment:	1250
Study Start Date:	October 2009
Estimated Study Completion Date:	October 2011
Estimated Primary Completion Date:	October 2011 (Final data collection date for primary outcome measure)

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes
Sampling Method:	Non-Probability Sample

Study Population

Retrospective recruitment: Eligible probands with breast or colorectal cancer may be identified retrospectively through protocols 96-051 (for breast cases) and 04-144 (for colorectal cases).

Prospective recruitment: The majority of eligible probands will be identified prospectively through the clinics of the Clinical Genetics, Medical Oncology and Pediatric Oncology Services.

Affected Probands. Unaffected Relatives.

Criteria

Inclusion Criteria:

Proband 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 neuroblastoma or primary bone sarcoma diagnosed at or under the age of 21.
- Proband must have living unaffected biologic mother and father available and eligible for participation in the study.
Unaffected 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.
Unaffected 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 ClinicalTrials.gov identifier: NCT00996710

Locations

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

Investigators

Principal Investigator:

Zsofia Stadler, MD

Memorial Sloan-Kettering Cancer Center

More Information

Additional Information:

Memorial Sloan-Kettering Cancer Center This link exits the ClinicalTrials.gov site

No publications provided

Responsible Party:	Memorial Sloan-Kettering Cancer Center ( Zsofia Stadler, MD )
Study ID Numbers:	09-068
Study First Received:	October 15, 2009
Last Updated:	November 3, 2009
ClinicalTrials.gov Identifier:	NCT00996710 History of Changes
Health Authority:	United States: Institutional Review Board

Keywords provided by Memorial Sloan-Kettering Cancer Center:

Genome-wide
09-068

Additional relevant MeSH terms:

Disease Attributes
Neuroectodermal Tumors, Primitive
Rectal Neoplasms
Gastrointestinal Diseases
Neoplasms, Nerve Tissue
Colonic Diseases
Rectal Diseases
Neuroblastoma
Neoplasms, Connective and Soft Tissue
Neoplasms by Site
Pathologic Processes
Neoplasms, Germ Cell and Embryonal
Genetic Predisposition to Disease
Breast Diseases
Neoplasms by Histologic Type

Digestive System Neoplasms
Skin Diseases
Disease Susceptibility
Breast Neoplasms
Intestinal Diseases
Intestinal Neoplasms
Neuroectodermal Tumors
Neoplasms
Digestive System Diseases
Sarcoma
Gastrointestinal Neoplasms
Neoplasms, Neuroepithelial
Colonic Neoplasms
Colorectal Neoplasms
Neuroectodermal Tumors, Primitive, Peripheral

ClinicalTrials.gov processed this record on February 08, 2010