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Oct 27, 2020 05:33PM
Oct 28, 2020 01:21AM
Thanks for that link comparing panels moth.
Besides looking at a different number of genes or at different genes, tests may differ in which variants of a gene they include. So an inexpensive mail-order kit may only look at the few most common variants in BRCA, for example, while the panel your genetics specialist orders may cover many more variants of BRCA. This could make the difference between missing or finding the one in a particular family.
As I understand it, two reasons to ask about retesting every so often are these:
First, more information may become available regarding what was a variant of unknown/uncertain significance. It may have been shown to be deleterious or benign.
Second, new genes may be added to a panel, as in the case Jons_girl mentions. Or they ought to be added to the panel, but must be done as custom add-on (see below).
You are talking about a Lynch gene, aren't you, Jons_girl? I have a mutation in one of them and so does my first-degree relative who also got a breast cancer diagnosis of ILC. So far out of seven family members tested in the past few years, four of us have the mutation. We are taking, as appropriate for each of us, prevention and screening action for breast cancer as well as other cancers associated with this mutation (colon, endometrial, and several others). This experience demonstrates the need to have a genetic counselor look at all the cancers in the family tree, not just breast cancer, since the cancers could be related to the same gene. The person who passed the mutation down in our family had colon cancer, not breast cancer. It also demonstrates that the list of cancers thought to be related to particular gene mutations can change. In 2015 my genetics specialists denied any connection of Lynch genes to breast cancer, but now my relative's counselor at another large institution says there is certainly a connection with at least a couple of them. (Eventually I'll get a chance to see what position my genetics doc takes these days.)
Regarding re-testing, when I was tested (only) for BRCA mutations in 2012, the genetics doc told me I could check back once in a while; he did not say that anyone would contact me. I do not recall how often I was to check.
2011 Stage I ITCs sn, premenopausal, Oncotype 16. 2014 Stage IV mets breast,liver. TaxolNEAD. Ibrance+letrozole 2yrs. Fas+afinitor nope. XelodaNEAD 2yrs. Eribulin,Doxil nope. SUMMIT FaslodexHerceptinNeratinib for Her2mut NEAD
2011, ILC, 1cm, Stage IA, Grade 1, 0/1 nodes, ER+/PR+, HER2-
2014, ILC, 2cm, Stage IV, metastasized to liver/other, Grade 2, ER+/PR+, HER2-
Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)