Family is neg for braca but many w cancer

Mommyathome

Hi. I'm 41 years old and I was diagnosed with cancer this December. My mom and her sister were both diagnosed w 2 different types of breadt cancer weeks from each other about 6 years ago. My maternal grandmother and aunt were both diagnosed with ovarian cancer. I have a cousin on my dads side who is my age that was diagnosed with cancer a few years back. My mom, aunt and a cousin who doesn't have cancer (her mom is my moms sister. My aunt passed from triple negative aggressive cancer) and I have been tested for braca and Bart. I am waiting for my results, everyone else tested negative! My doctor feels that there has to be a genetic link, maybe not what is tested through these test but we are determined to find it. I have 3 girls of my own, ages 9,7,4 that I need to protect. I am meeting with a genetic counselor and my dr told me there is another test coming out this summer; a panel that my mom and I will do. Has anyone else had a lot of family history but came up braca negative? What did you do????

geekyknitter

I believe divecat is going through a similar situation, with a negative BRCA result, but still a ton of cancer in her family.  Hopefully she'll pop in to share her experiences.  You also might want to try posting over on the FORCE (facingourrisk.org) message forums.  There are other women there that are high risk, but BRCA negative.  It's VERY good that you're meeting with a genetic counselor.  They know a lot more about the genetics behind hereditary cancer than most doctors and can better advise you about your own risk.

I think it is amazing that we have BRCA testing now, but I'm sure we're just starting to understand the genes involved in hereditary cancers.  I'm waiting on my own BRCA test results and in my family, it looks like it might be hiding in male family members.  My great-aunts all died of breast and ovarian cancer, but I'm the first female in generations since, so I had to work with a genetic counselor to get testing approved.  From the computer models my genetic counselor used, it looks highly likely that these women had some sort of BRCA mutation, but we can't know for sure.  When cancer clusters in families, there can also be environmental factors at play that we don't yet understand or don't have enough information about after the fact.

I hope your results come back soon and that the genetic counselor will be able to help you work through all this and come up with a plan that works for you!

DiveCat

I have not had cancer, but family has a strong history of BC. Those who have tested (me included) are BRCA-. I have also tested for other moderate-penetrance mutations (CHEK2, TP53, etc) and been negative. I do know from other testing I have some "low penetrance" SNPs linked to BC, but these are not determinative and range from uncommon to common. There are no clinical guidelines for them, or really any certainty as to how they may affect my own specific risk, so my genetic counselors and medical providers go by my family hx and personal factors (which puts my lifetime risk at 40%/4x average).

Sometimes you just might not know WHAT the mutation is, but that does not mean there is not genetics at play. I have been told my family likely has polygenics at play, or an unknown/undiscovered mutation. Maybe one day it will be known, maybe not. I kind of had had to accept that uncertainty because whatever it is, they can't find it right now. Or, it really may be polygenics...meaning our family genes as a whole raise our risk. They migt never know why because there could be many genes that just work differently in our family together than they might in another. It is pretty clear in your family (maternal side definitely) there is something going on....but at this point, or ever, you just might not know. BRCA-mutations only account for some of the hereditary risk....not all.

I am getting a PBMX in May. I did high risk breast screening for a while, as well. I am not doing anything about my ovaries at this time as there is no known OC at this point (though past generations did get hysterectomies usually) but that might change as information changes as OC is much more sneaky and there is no really great screening for it.

If your mom tested negative for BRCA recently, you would be negative too....unless she tested a long time ago maybe as testing has advanced then. Or unless you inherited from your father though it sounds like the history is on your mother's side. BRCA-mutations do not skip generations.

I am happy you are meeting with a genetic counselor. I am a bit discouraging of people getting tested through their doctors (who are usually NOT genetics experts) and such without seeing a GC. They are a very important part of the process. When your daughters are old enough (18+) they should also see a GC...only if they are ready though.

Moderators

Hi Mommyathome,

Here's what the main Breastcancer.org site's page on What to Do if Your Genetic Test Results are Negative page has to say about what happens if you test negative for BRCA, but still have a lot of cancer in the family:

"If your test and your family members’ test results are normal, but many
young women in your family (younger than age 50) have been affected by
breast cancer, the cancer in your family could be due to an inherited
genetic abnormality that has not yet been identified. The same holds
true if your results were normal but you were unable to have a family
member with cancer tested first. These genetic test results are
sometimes called “uninformative” or “inconclusive” results. For
suggestions about what to do under these circumstances, see the What to Do If Your Genetic Test Results Are Uncertain page."

We hope this helps!

--The Mods

Lojo

Hi mommyathome,

I'm also 41 and with two kids and recently diagnosed with ILC. I also tested negative for BRCA. My paternal aunt died of stomach cancer (we think potentially metastasized BC  as she'd had a lumpectomy some years earlier, though not sure), but this was a while ago so no genetic testing available. My mother died of premenopausal BC (prior to testing availability) and had a first cousin who did also, so I knew I was high risk, though neither of my mother's sisters have had a problem and have lived into their 80s. I made the decision to do a bilateral mastectomy - prophylactic on one side. I made this decision for a few reasons - they weren't able to do a lumpectomy on my affected side (I'm not sure if I would have if a lumpectomy had been an option or if the cancer had shown up on mammograms), and also because I've read that there is a slightly higher risk for contralateral cancer in younger women with family history (even if BRCA neg) and (more importantly for me) my initial ILC (4cm) had been missed by multiple mammograms, I ave (had) very dense breasts and there were a few suspicious spots on my pre-surgery MRI on my "good" side that would have to be biopsied (they were benign), and I was concerned about my mental health for the monitoring that would be necessary. There's no solid evidence that prophylactic mastectomy in non BRCA women improves overall survival (it does seem to in BRCA + women), but I don't know that the time horizons have really been long enough to evaluate this throroughly. So.... for me there is definitely (in my mind) some unidentified genetic risk factor.

Definitely meet with a genetic counsellor - and make sure your girls have all the information available to them once they are young adults.

Mutd

I am waiting for my results, everyone else tested negative!

Negative in BRACAnalysis and BART? And 2 of the 3 negative tested relatives had cancer? Any other types of cancer in the family to help you gauge a possibility that it may be a different genetic syndrome? For example ovarian cancers may also be an indication of Lynch syndrome. It isn't as strongly associated with breast cancer to cause two cases of it in the family, but then again, one of the two may easily be non-genetic ... it isn't unlikely at all to have occasional non-genetic breast cancers in the high-risk families. But the pattern of additional cancer types may give a clue about what other genes could be involved...

Mommyathome

Ovarian, bladder, breast, lung...... I'll have to look up lynch syndrome! Thanks