Genomic Structural Variation in Cancer Susceptibility

NCT00996710 | Active Not Recruiting

• 1 other identifier: 09-068
• Study Type: observational
• Target: 1,275
• Locations: 1 country
• Sites: 1

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.

Conditions

Breast Cancer; Colon Cancer; Germ Cell Cancer; Neuroblastoma; Rectal Cancer; Sarcoma

Keywords

Genome-wide; 09-068

Outcome Measures

Primary Outcomes (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

  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

  2 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.
• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Memorial Sloan Kettering Cancer Center: lead
• Cold Spring Harbor Laboratory: collaborator
• Coriell Institute: collaborator
• Weill Medical College of Cornell University: collaborator
• University of Washington Center for Mendelian Genomics: collaborator

Study Sites (1)

Memorial Sloan Kettering Cancer Center

New York, New York, 10065, United States

Location

Related Links

• Memorial Sloan-Kettering Cancer Center

Biospecimen

Retention: SAMPLES WITH DNA

blood or saliva sample

MeSH Terms

Conditions

Breast Neoplasms; Colonic Neoplasms; Neoplasms, Germ Cell and Embryonal; Neuroblastoma; Rectal Neoplasms; Sarcoma

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Colorectal Neoplasms; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Neoplasms by Histologic Type; Neuroectodermal Tumors, Primitive, Peripheral; Neuroectodermal Tumors, Primitive; Neoplasms, Neuroepithelial; Neuroectodermal Tumors; Neoplasms, Glandular and Epithelial; Neoplasms, Nerve Tissue; Rectal Diseases; Neoplasms, Connective and Soft Tissue

Study Officials

• Zsofia Stadler, MD

  Memorial Sloan Kettering Cancer Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 15, 2009
• First Posted: October 16, 2009
• Study Start: October 1, 2009
• Primary Completion (Estimated): October 1, 2026
• Study Completion (Estimated): October 1, 2026
• Last Updated: November 4, 2025

Record last verified: 2025-11

Locations

US (1)