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Genomic Structural Variation in Cancer Susceptibility

17:20 EDT 25th May 2013 | BioPortfolio

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 new gene changes may cause cancers in the offspring. We will look for these gene changes by studying both patients with cancer and their 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.

Study Design

Observational Model: Family-Based

Conditions

Breast Cancer

Location

Memorial Sloan Kettering Cancer Center
New York
New York
United States
10065

Status

Enrolling by invitation

Source

Memorial Sloan-Kettering Cancer Center

Results (where available)

View Results

Links

Medical and Biotech [MESH] Definitions

Inflammatory Breast Neoplasms

Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells.

Carcinoma, Lobular

A infiltrating (invasive) breast cancer, relatively uncommon, accounting for only 5%-10% of breast tumors in most series. It is often an area of ill-defined thickening in the breast, in contrast to the dominant lump characteristic of ductal carcinoma. It is typically composed of small cells in a linear arrangement with a tendency to grow around ducts and lobules. There is likelihood of axillary nodal involvement with metastasis to meningeal and serosal surfaces. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1205)

Mucin-1

Carbohydrate antigen elevated in patients with tumors of the breast, ovary, lung, and prostate as well as other disorders. The mucin is expressed normally by most glandular epithelia but shows particularly increased expression in the breast at lactation and in malignancy. It is thus an established serum marker for breast cancer.

Breast Neoplasms

Tumors or cancer of the human BREAST.

Brca1 Protein

The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)

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