Clinical Significance of Germline BRCA Mutations


Full Title

Clinical Significance of Germline BRCA Mutations


It has been estimated that about 5 to 10 percent of all female breast and ovarian cancer cases are hereditary. The proportion of male breast cancer that is hereditary is thought to be similar. Hereditary cancers occur as the result of inheriting an alteration in a gene that increases the likelihood of developing cancer. In most families with this inherited alteration in a gene, several individuals will be affected with cancer.

The purpose of this study is to help learn more about the roles of genes in cancers that run in families, especially breast and ovarian cancers. Altered genes have been identified in families with cancer, but what this means or how to use the information to prevent cancer is not understood.

In this study, participants - and any of their family members who wish to participate - will give blood or sputum samples that will be tested for mutations in the BRCA gene, which increases the risk of breast and ovarian cancers. All participants will receive pretest and post-test genetic counseling. Counselors will discuss their risk for the types of cancer that run in their families and their options for medical care. Participants can learn the results of the genetic testing only if they wish to know.

The blood and sputum samples collected will be used in research to learn more about the genes that place a person at a higher risk of breast or ovarian cancer.


To be eligible for this study, patients must meet several criteria, including but not limited to the following:

  • Participants must be seeking or be referred to genetic counseling due to a concern about increased risk for breast cancer.

For more information and to see if you are eligible for this study, please contact Dr. Kenneth Offit at 646-888-4050.