My next step - Question!

It is your body and your choice. If the genetic testing comes back positive and you're willing to live with the increased odds of a recurrance by going the lumpectomy route, then that is what you should do. the doctors can't make you do anything

HI etnasgrl:

You seem like a planner! What kind of testing are you having: BRCA1 and 2 only or a multi-gene panel test? Also, have you and/or will you be meeting with a genetic counselor?

I ask because different genes confer different degrees of risk(s). Consensus guidelines are not available for all of the genes that may be tested. Thus, with some genes, prophylactic mastectomy is not yet recommended, although a patient might still choose it for various reasons.

I do agree with Sjacobs that it comes down to: What is the level of risk conferred by this particular mutation in this gene? What is my overall risk of a new cancer or recurrence, in light of this mutation, my presentation, and family history? (A genetic counselor can conduct a personalized risk assessment for you.) Then, assuming the gene and mutation are adequately characterized, what are the recommended screening and/or risk reduction options for deleterious mutations in this particular gene (e.g., enhanced screening, chemoprevention, prophylactic bilateral mastectomy (PBM))? How effective/reliable are these? By how much would chemoprevention and/or PBM reduce risk? What level of risk can I live with?

I had BRCA1/2 testing only. At the time, I was diagnosed on the right side only (unilateral, multifocal disease), was pre-menopausal (52), my family was small, and I had one first and one second degree relative with cancers typical of HBOC (hereditary breast and ovarian cancer) syndrome, plus other types of cancers in the family history. I had learned in parallel with my diagnosis that I had one heterogeneously dense and one extremely dense breast, which can increase risk and impede detection. I had seen my mammograms, and I was concerned about the limitations of screening in my case. I realized that even if the BRCA test came out negative, I might still have some unidentified genetic pre-disposition. So, during the waiting period, I actually thought more about what I would do if I had a negative result: Would I go forward with the recommended unilateral mastectomy and continue with screening the other side, or would I seek contralateral prophylactic mastectomy (CPM)? I was leaning towards CPM. As fate would have it, on the very day I got the good news about the genetic testing results, as part of a second opinion (which recommended another diagnostic mammogram), I got the bad news that I would need a surgical biopsy on the other side, which led to a diagnosis of bilateral breast cancer and indicated bilateral mastectomy.

Formally speaking, I note there is yet another option, and that is mastectomy without reconstruction. That is what I chose, after researching my options. If you are curious about that, this is an excellent website (created by a member of BC.org), with personal stories about why people chose that route (see menu at right):

http://breastfree.org

I am hoping for clear negative results for you!

BarredOwl

Age 52 at diagnosis - Bilateral breast cancer - Stage IA IDC - BRCA negative;

Bilateral mastectomy and SNB without reconstruction 9/2013

Dx Right: ER+PR+ DCIS (5+ cm) with IDC (1.5 mm) and micro-invasion < 1 mm; Grade 2 (IDC); 0/4 nodes.

Dx Left: ER+PR+ DCIS (5+ cm); Grade 2 (majority) and grade 3; isolated tumor cells in 1/1 nodes (pN0i+(sn)).

Hi Etnasgrl,  thinking of you as you go through this process.  I had similar stats to you.  I had lots of family history and yet it came back BRCA negative.  I was 45 at the time with an active 7 year old son.  Unlike you, I wanted a double mastectomy - off with them, I thought! .  I had reconstruction with latissimus dorsi.  I hope you don't have to have a mastectomy if you don't want it.  Surgery did indeed stink and I was in pain for a period.  Drains suck too.  I was lucky and had the world's best plastic surgeon, but I was driving and back at the gym 2 weeks after a 14 hour surgery, walking on the treadmill and being a mom doing most everything I wanted to do.  By 4 weeks, walking 4 miles a day and back at work.  Then for the implant exchange I was only out of commission for a day an a half.  That was 4.5 years ago.  I just turned 50 and I can do more full body push ups than most men I know.  If you have to have a mastectomy, get a great surgeon/plastic surgeon and know that it doesn't necessarily mean you'll be down and out for long at all.  Keep us posted as you get your results and decide on next step.  You'll come up with the right decision for you.