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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Breast Cancer Breast Diseases Breast Neoplasms Colon Cancer Colonic Diseases Colonic Neoplasms Colorectal Neoplasms Digestive System Diseases Digestive System Neoplasms Gastrointestinal Diseases Gastrointestinal Neoplasms Germ Cell Cancer Intestinal Diseases Intestinal Neoplasms Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Connective and Soft Tissue Neoplasms, Germ Cell and Embryonal Neoplasms, Glandular and Epithelial Neoplasms, Nerve Tissue Neoplasms, Neuroepithelial Neuroblastoma Neuroectodermal Tumors Neuroectodermal Tumors, Primitive Neuroectodermal Tumors, Primitive, Peripheral Rectal Cancer Rectal Diseases Rectal Neoplasms Sarcoma Skin Diseases Skin and Connective Tissue Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Memorial Sloan Kettering Cancer Center

New York, 10065, United States

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

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

Secondary outcomes

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

and mechanisms of Mendelian inheritance, such as autosomal recessive, autosomal dominant, and X-linked, which upon initial ascertainment may be difficult to decipher.

Sponsors and collaborators

Lead sponsor

Memorial Sloan Kettering Cancer Center

Other

Collaborators

Cold Spring Harbor Laboratory
Coriell Institute
University of Washington Center for Mendelian Genomics
Weill Medical College of Cornell University

Registry information

Important dates

Study start: 2009
Primary completion: 2026
Study completion: 2026
First posted: Oct 16, 2009
Registry last updated: Nov 4, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Active, Not Recruiting