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| Name | Class |
|---|---|
| Cold Spring Harbor Laboratory | OTHER |
| Coriell Institute | UNKNOWN |
| Weill Medical College of Cornell University | OTHER |
| University of Washington Center for Mendelian Genomics |
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.
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| To explore the role of germline homozygosity in cancer susceptibility by determining the frequency and length of autozygous regions in patients with cancer | and mechanisms of Mendelian inheritance, such as autosomal recessive, autosomal dominant, and X-linked, which upon initial ascertainment may be difficult to decipher. | 2 years |
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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):
Parents:
Sibling(s):
Exclusion Criteria:
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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.
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| Name | Affiliation | Role |
|---|---|---|
| Zsofia Stadler, MD | Memorial Sloan Kettering Cancer Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Memorial Sloan Kettering Cancer Center | New York | New York | 10065 | United States |
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| Label | URL |
|---|---|
| Memorial Sloan-Kettering Cancer Center | View source |
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| ID | Term |
|---|---|
| D001943 | Breast Neoplasms |
| D003110 | Colonic Neoplasms |
| D009373 | Neoplasms, Germ Cell and Embryonal |
| D009447 | Neuroblastoma |
| D012004 | Rectal Neoplasms |
| D012509 | Sarcoma |
| ID | Term |
|---|---|
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D001941 | Breast Diseases |
| D012871 | Skin Diseases |
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| UNKNOWN |
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blood or saliva sample
| D017437 |
| Skin and Connective Tissue Diseases |
| D015179 | Colorectal Neoplasms |
| D007414 | Intestinal Neoplasms |
| D005770 | Gastrointestinal Neoplasms |
| D004067 | Digestive System Neoplasms |
| D004066 | Digestive System Diseases |
| D005767 | Gastrointestinal Diseases |
| D003108 | Colonic Diseases |
| D007410 | Intestinal Diseases |
| D009370 | Neoplasms by Histologic Type |
| D018241 | Neuroectodermal Tumors, Primitive, Peripheral |
| D018242 | Neuroectodermal Tumors, Primitive |
| D018302 | Neoplasms, Neuroepithelial |
| D017599 | Neuroectodermal Tumors |
| D009375 | Neoplasms, Glandular and Epithelial |
| D009380 | Neoplasms, Nerve Tissue |
| D012002 | Rectal Diseases |
| D018204 | Neoplasms, Connective and Soft Tissue |