RESULTS of Genetic Testing

No Mutation Detected.

Mutations in BRCA1 and BRCA2 cause most cases of hereditary breast and ovarian cancer (HBOC), a syndrome that involves various cancers, primarily breast and ovarian. My results showed no mutations or alterations detected in either the BRCA1 or BRCA2 gene. So, the chance that I have HBOC syndrome is significantly reduced but not completely ruled out.

My family has a history of breast cancer. My Grandmother, Aunt and cousin all have been diagnosed with breast cancer. At this point no known mutation has been identified, but something has to be causing these cancers.

My Genetics Counselor has decided to do additional testing called 5-site rearrangement panel regarding the BRCA1 and BRCA2 gene.

So, what does this mean?
In cases where no known mutation in BRCA1 or BRCA2 has previously been identified in a family with a history of breast and/or ovarian cancer, a negative test is not informative. It is not possible to tell whether a person has an alteration in BRCA1 or BRCA2 that was not identified by the test (a false negative), or whether the result is a true negative. In addition, it is possible for people to have an alteration in a gene other than BRCA1 or BRCA2 that increases their cancer risk, but is not detectable by this test.

So, I sit here and scratch my head. I haven't gained any insight into my cancer and/or my family history of breast cancer. My option is to continue to test until we find the known mutation.