Ovarian Cancer Genetic test

Hi Doctor.  My Mother is 47 and has ovarian cancer.  Soon after diagnose we went and had a genetic test done for brca1 & brca2.  Being that we are Ashkenazi Jews insurance approved of it right away.  Genetic doctor explained how the test was done, they were first testing the outer part of the gene for mutation.  My Moms came back negative, but they never proceeded to test the inner part of the gene since she came up negative the first time.  So now a year later and more research I become more convinced that my Mom probably does have the mutation for these genes but was just never further tested for the mutation.  They said her case is just sporadic and random, for me its a bit hard to except that since we fit so well for having the genetic mutation.  What is your opinion on this.
Thank You

[Lisa Kessler, MS, CGC]

There are different BRCA1 and BRCA2 tests that are available.   For individuals who are Ashkenazi Jewish, the first test that is often ordered is called multisite testing.  Multisite testing looks for 3 gene mutations in BRCA1 and BRCA2 and account for the majority of mutations in these 2 genes among Ashkenazi Jewish individuals.  From your question, I am not sure if this is the testing that your mother had or not.  There is a second round of testing that some Ashkenazi Jewish individuals may pursue after testing negative on multisite testing, and this is called reflex testing.  Reflex testing looks for other mutations in the BRCA1 and BRCA2 genes.  I encourage you to talk with your mother and her genetic counselor about the testing that she has had and discuss the option of additional testing.