Identification of Genes Associated With Cancer in Patients and Siblings Who Have Cancer

2014-07-24 14:36:01 | BioPortfolio


RATIONALE: Identification of genes that may be associated with developing certain types of cancer may someday provide important information about a person's risk of getting cancer.

PURPOSE: This clinical trial is studying to see if certain genes may be associated with cancer in patients with cancer of the breast, prostate, lung, or colon and siblings of these patients.



- Gather allele-sharing statistics at approximately 100 candidate loci throughout the human genome most likely to influence genetic risk of cancer.

- Use these allele-sharing statistics to test the interaction of each locus individually with cancer-associated, rare alleles of HRAS1.

- Generalize this approach for one of four cancers (breast, colon, lung, or prostate), using allele-sharing statistics to test the interaction of each locus with every other locus.

- Replicate positive results in a distinct set of sibling pairs with cancer.

- Examine, when loci contributing to risk are detected, the influence of this genetic background on clinical outcomes, such as survival.

OUTLINE: Each patient-sibling pair completes a family history questionnaire about the incidence of cancer in the family. Blood samples are obtained from both the patient and the sibling (and both living parents, if available).

The blood samples are genotyped using approximately 300 micro-satellite markers flanking 100 candidate genes previously implicated in genetic risk for cancer. Certain loci are a priority due to their association with HRAS1: BRCA1 and all known mismatch repair loci; other repair genes, such as ATM; the Bloom's syndrome locus; and the XRCC group. Other genes are also mapped.

Patients do not receive the results of the genetic testing and the results do not influence the type and duration of treatment.

Patients only are followed annually.

PROJECTED ACCRUAL: This study will accrue 1,000 patient-sibling pairs for breast cancer. After 18 months, another 1,000 patient-sibling pairs will be accrued for breast cancer. Therefore, up to 2,000 patient-sibling pairs will be accrued over 5 years. (Feasibility of accruing pairs for lung, colon, and prostate cancer is being assessed.)

Study Design



Breast Cancer


gene mapping


Lucy Curci Cancer Center at Eisenhower Memorial Hospital and Medical Center
Rancho Mirage
United States




National Cancer Institute (NCI)

Results (where available)

View Results


Published on BioPortfolio: 2014-07-24T14:36:01-0400

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Medical and Biotech [MESH] Definitions

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)

Abnormal accumulation of lymph in the arm, shoulder and breast area associated with surgical or radiation breast cancer treatments (e.g., MASTECTOMY).

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.

A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.

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)

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