Testing for Mutations
This is an interesting editorial from the Journal of Clinical Oncology about the wisdom of testing all women, with a new diagnosis of breast (or, I assume, ovarian) cancer, for the BRCA mutation. In my experience, this testing is not routinely offered as sometimes it seems pretty clear that a new breast cancer is not related to a mutation (e.g. a post menopausal woman with no family history). When it is very clear that there may be a mutation present (e.g. a 35 year old woman with a strong family history), it is always suggested. This leaves a big gray area.
Here is the beginning and then a link to read more:
Should All Women With Breast Cancer Be Tested for BRCA Mutations at the Time of Diagnosis?
Steven A. Narod,
Goodwin et al1 ask whether or not, among women with breast cancer, the presence of a BRCA1 or BRCA2 mutation is of clinical significance. They propose that information about prognosis can help women make better informed decisions regarding cancer treatment, preventive surgery, and screening. If so, these are excellent reasons to know one's genetic status, and these are issues that concern many of us. In terms of screening, the patient with a mutation can ask: "If I develop breast cancer and it is identified by magnetic resonance imag- ing (MRI) screening, will the prognosis be so good that I am nearly assured of a cure?" If so, then prophylactic surgery may be unneces- sary. Burness and Olopade2 ask us to believe that this is now the case. However, in the Goodwin et al paper, 27% of the women with cancers below 2 cm in size and 18% of the women with node-negative hered- itary breast cancers experienced a distant recurrence in the 8 years of follow-up. For noncarriers with small cancers, the equivalent propor- tion was 15%. Among BRCA1 carriers, 31% of those with a tumor of 2 cm or less and 20% of those with node-negative breast cancer died in the follow-up period (we do not know how many of these were screen detected).