Not sure where I should post this question but..

April - if you want her to have genetic testing consider Color Genomics. 19 genes for $249, self pay. It took four months for me to get my results ( no mutation) but well worth it. In addition to the test you get a free, yes free! phone session with a licensed genetic counselor. Amazing value. My Dd should start screening soon. Earliest onset was 27 in my fam. Now that I have the full panel back my onc thinks it might not be a familial thing for me but we can't risk it for DD. My amazing onc agreed to follow DD and advocate for yearly MRIs at 25. Then DD moved. Gen counselor at Color Genomics sent me a full report after our session PLUS the name of a GC at a Hereditary Cancer center near her. She suggests DD meets w them, have them look at family history plus DD's biology and risk factorsincluding Breast density and come up w a screening plan. I thought that was good advice.

Hi:

I have had full-blown BRCA testing (Myriad), but was negative (no deleterious mutation found). I was offered a multigene panel test (BreastNext Gene Analysis, Ambry Genetics). However, after discussing it with a genetic counselor, I declined further testing at the time (August, 2013), because I felt I would worry too much if I had a mutation in a gene that lacked established consensus practice guidelines, a gene with limited screening or risk management options, or a variant of unknown significance. My family history of cancer and my own bilateral disease are somewhat suspicious, so at some point, I might change my mind.

I've been reading FarmerLucy's thread about Color Genomics with interest, and trying to learn more about multigene panel testing. I thought you ladies might be interested in this recent article from JAMA Oncology:

http://oncology.jamanetwork.com/article.aspx?artic...

The trial "prospectively enrolled 1046 individuals who were appropriate candidates for HBOC [hereditary breast and ovarian cancer] evaluation and who lacked BRCA1/2 mutations." Among these, "The vast majority were women, and 83% had a personal history of breast and/or ovarian carcinoma, while only 14% were cancer unaffected. . ." "An additional 23 patients referred to our centers and harboring non-BRCA1/2 mutations were enrolled and included in subsequent analyses."

They "carried out multigene panel testing on all participants, then determined the clinical actionability, if any, of finding non-BRCA1/2 mutations in these and additional comparable individuals." The multigene panels used were: "the 29-gene Hereditary Cancer Syndromes test (Invitae), used at Stanford and MGH, or the 25-gene MyRisk test (Myriad Genetics), used at BIDMC." [MGH, Mass General Hospital and BIDMC, Beth Israel Deaconess Medical Center]

Mutations in other genes were not that common: "Consistent with recently reported findings from other similar cohorts15,17- 19 and our group's published work,10,16,20 we found that 3.8% of BRCA1/2 mutation-negative individuals (95% CI, 2.8%-5.2%) harbored deleterious mutations in other hereditary cancer predisposition genes."

However, among the group of mutation carriers, the following findings are interest in light of your discussion above (emphasis added by me):

• "A substantial subset of individuals (20 of 63) were found to have mutations in high-risk genes associated with detailed NCCN consensus management guidelines, and in these instances finding the mutation would always change management (Table 2). Notably, although these individuals had personal and/or family histories consistent with the mutation, many would not have met established gene and/or syndrome-specific testing criteria. Thus, these clinically significant mutations may have been missed by the traditional, focused testing approach. The potential clinical effect of finding these mutations was equally important for patients' family members: testing of additional family members would be recommended in all cases (Table 1).1,22"

• "Notably, among patients with breast cancer, we did not observe an effect of age at diagnosis on the prevalence of breast cancer–associated genes (Figure 1). This situation is quite different from BRCA1/2, the prevalence of which is strongly age dependent, and suggests that diagnosis age is not a reliable indicator of mutation probability when testing for these other genes."

The article is well-written and organized (with supplemental material under tabs at top), and I think it provides some good information for those considering multigene panel testing or who wish to learn more about it.

BarredOwl

I had a full genetic panel of tests which discovered that I had a gene mutation.  The results showed a "variable of unknown significance", possibly for the colon???  There is absolutely no information about this gene mutation.  How unsettling. 

No doctor seems to be worried about my daughter except me.  My daughter had a giant fibroadenoma (that was the size of an egg) removed when she was 17.  She just turned 20 last week.  I will encourage her to have early testing when she is 35.  I was diagnosed last summer, at 49.  I also have a son but even though males can get bc, I am not really worried about my son getting bc. 

Thanks for all of the great information.  It is helpful.

Hi April:

I hear you. And even more so as you are the mom. My older sister is at increased risk thanks to me, and she is now having some discussions with her primary care physician, albeit two years after my diagnosis.

I have found that my OB/GYN does not know that much about breast cancer. Of course, there are some who are very well-informed about breast cancer. But in general, although they are trained to do clinical breast exams, their main area of expertise is a bit different. Were I to go back in time, my primary care physician would be the person with whom I would discuss my family history and personal risk factors, towards developing a sensible approach to baseline and regular screenings. Perhaps you could suggest to your daughter, that at her next annual physical, she should inform the doctor of her family history of cancer, seek their input about her risk factors, and ask for a recommendation.

By the way, I am not advocating multigene panel testing for anyone. At the same time, I would not question the decision of anyone who has chosen such testing for themselves. But as I noted above, there are some down-sides for "worriers" like me, including the lack of consensus practice guidelines for deleterious mutations in many genes, the absence of effective screening and/or risk management options for some associated cancers, variants of unknown significance, and some genes that are almost totally uncharacterized in terms of the level of risk.

BarredOwl

I find the age thing to be kind of interesting. My initial biopsy in 2009 missed it. It took until 2012 to find the tumor through a proph mastectomy. If they had found it in 2009 I would have been 49. Who knows when it would have been found with screening. Let's say 55 (my oncotype was quite low so prob slow growing) Anywho a doc would prob take a cancer of a 49 yr old a lot more seriously than a 55 year old in terms of next generation screening when in all actuality it was merely dumb luck that it wasn't found at 49 but later. Seems like they should take into account size and grade when looking at earliest onset. I'm rambling. . .

April - maybe you can show her this post. The year before I was diagnosed I asked for a baseline mammo from my GP. Here in Canada the official screening age is 50 but the guildelines say that you can get screened earlier "if you and your doctor feel it is right". We had a long drawn out conversation about why I should/shouldnt get screened, how I had virtually no risk being so young and zero family history blah blah blah. I remember clearly fighting for it then finally conceeding because she made me feel ridiculous. Guess what? I was diagnosed 8 months later. I always wonder if I had had that baseline if it would have been caught earlier. My onc's told me it wouldnt have changed my course of treatment (because I was her2 positive) but earlier is always better and I tortured myself for months after as to why I didnt push harder. Its no big deal to be screened earlier - if she is worried about radiation exposure have a ultrasound. No harm done, you can rest easy and at least she has a baseline.

For any of you who had genetic testing prior to mid-2013 (more than two years ago): please be aware that there has been an explosion in knowledge, approach and accessibility. BRCA 1/2 are not the only consideration. You really need to talk to a certified counselor who has kept up to date. There are less expensive options, as farmerlucy points out, but you can also make a case to obtain insurance coverage.

The article BarredOwl cites is a landmark study, in my opinion. Most doctors, whether primary care or specialist, simply do not have the time to remain current with the rapid pace of advancement in this field. Due to the Myriad patent, now invalidated, much data was withheld from publication & analysis however patients can choose to volunteer their results through the PROMPT program, information on which is pinned to the top of this forum, making it the first topic. This effort will eventually help many of us to decide what to do about 'variations of unknown significance' and hopefully relieve the associated anxiety.

Finally, for our original poster's concern about her daughter, if you showed a mutation and she was also positive, her gynecologist would have to commence screening earlier, preferably via tomosynthesis. 3D mammograms are better at picking things up, especially in dense tissue. So, call for a reevaluation of your family history and see if you now qualify for a panel that includes Lynch syndrome