Prognosis in BRCA1 associated breast cancer
We plan to investigate factors that predict future outcomes of women with a breast cancer (BC) diagnosis who have mutations or changes in the BRCA1 gene. These data will be compared with women without these genetic changes to the BRCA1 gene and who have no family history of breast cancer.
We hypothesize that women with hereditary breast cancer due mutations in BRCA1 will have a higher risk of cancer recurrence, death, and new breast cancers than women without hereditary breast cancer.
Our specific aims are to compare the risk of distant recurrence, metastasis, and death in women diagnosed with invasive breast cancer that have germline mutations in BRCA1 to the risk in women without germline mutations in BRCA1. Examination of the impact of germline BRCA1 mutations on distant recurrence is our primary objective. Our research plan will explore the frequency and prognostic or predictive importance of traditional factors such as tumor size, grade, and type.
We will also use detailed treatment information to describe the associations of cancer therapy with distant recurrence and death and the associations of treatment, surgery and radiation, with breast events in women with BRCA1 mutations. Our goal is to generate hypotheses that can be tested in future randomized treatment trials.
This project is one component of the Breast Cancer Family Registry, established in 1995, which serves as a resource for research into hereditary breast cancer. The women enrolled in our center have undergone an evaluation of family history, demographics, epidemiologic and risk factor exposure based on an in-person interview. Mutation analysis and collection of tumor specimens for centralized pathology review is on-going.
Investigator: Pamela Goodwin, M.D., Samuel Lunenfeld Research Institute, Mount Sinai Hospital.
Co-Investigator: Dee West, Ph.D.
Funding Source: National Cancer Institute
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