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.
Germ Cell Cancer
|Study Design:||Observational Model: Family-Based|
|Official Title:||Genomic Structural Variation in Cancer Susceptibility|
- 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 ]
- 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
|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)|
|United States, New York|
|Memorial Sloan Kettering Cancer Center|
|New York, New York, United States, 10065|
|Principal Investigator:||Zsofia Stadler, MD||Memorial Sloan-Kettering Cancer Center|