Clinical trial NCT00996710: Genomic Structural Variation in Cancer Susceptibility
Official title: Genomic Structural Variation in Cancer Susceptibility
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Breast Cancer
Colon Cancer
Germ Cell Cancer
Neuroblastoma
Rectal Cancer
Sarcoma
Keywords: Genome-wide
09-068
Lead sponsor: Memorial Sloan Kettering Cancer Center
Sponsor class: OTHER
Collaborators: name: Cold Spring Harbor Laboratory
name: Coriell Institute
name: Weill Medical College of Cornell University
name: University of Washington Center for Mendelian Genomics
First posted: 2009-10-16
Enrollment: 1275
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: OTHER
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.

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.


Eligibility criteria: 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.

Primary outcomes:
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
timeFrame: 2 years
Secondary outcomes:
measure: To explore the role of germline homozygosity in cancer susceptibility by determining the frequency and length of autozygous regions in patients with cancer
timeFrame: 2 years
Other outcomes:
Locations:
city: New York
country: United States
facility: Memorial Sloan Kettering Cancer Center
state: New York
Study officials:
affiliation: Memorial Sloan Kettering Cancer Center
name: Zsofia Stadler, MD
role: PRINCIPAL_INVESTIGATOR
References: