Please help with a few questions..

Artista928 · February 2017

My mom was dx'd with DCIS 2.5 cm tumour, 0 node involvement, ER+. She had a lumpectomy and is now in middle of rads. She will be put on an AI.

Up until Oct, her dx, I had no fam history. Today I inform my onc and she said we need to talk about genetic testing. I asked why does it matter. I don't have daughters or sisters to worry about. It's just me and mom. Nope. I was schooled on the importance of finding out if I have a genetic mutation gene(s) which I guess is what brca 1 & 2 are called.

I was in a fog so I'm not sure I got the facts straight so I'll write what I think she said and please correct me/add to it as you see needed. Thanks-

If I have it, I'm at even higher risk of developing other cancers. They can actually pinpoint through blood test that say I'm a high risk for ovarian cancer. If that's the case then wise move would be to just have them removed. What can't be removed say like pancreas and such they would do more intensive screening that you wouldn't otherwise get because insurance doesn't cover it.

My thought was of course, no one other than bro in my fam knows. She said they do the testing on me and don't need anything from mom. Then she brought up the other reason it's wise to do it. It's not just for myself but for every blood relative, female AND male. If I come up positive for the brca1 and/or brca2 gene then I very well may have to spill to everyone about my cancer battle. This is because it increases their chance of getting some type of cancer(not just breast as the panel points out what organs I have the mutated gene). They can get tested to see if they have the gene(s) and insurance covers it. This would allow them to possibly prevent it from happening. She gave me the example of Angelina Jolie and how she didn't have cancer but though genetic testing found she has that gene and opted to have bilat mastectomies. It also showed her high risk for ovarian cancer so she had them removed. If say I have the one for bc then it's highly recommended I tell everyone in the fam esp mom so she could get tested and see if she has the gene. This would probably make her decide to get bilat mastectomies in an effort to prevent cancer. Or for say my 30 year old cousin, she gets tested and has the bc mutated gene. Since she's only 30 she may choose to take Tamoxifen which helps prevent cancer from happening as well as re-occuring and she'd be closely watched. She may decide to just get bilat mastecs. If I'm + then my bro could have the gene to increase his chance of bc or prostate cancer, etc. By my revealing (if I'm +) to everyone in the fam male and female I'd be giving them a chance to prevent them from at least genetically getting cancer. Most bc is not genetic but cancers like pancreas are.

My biggest confusion is did I understand it right, that the brca 1 and 2 test they do points out if I have a mutated gene for any cancer, or just bc? I look at brca and it spells out breast cancer in my eyes.

Just looking for any corrections or any other important info I missed on the long talk. I tried reading up on it but the way I write is best how I understand things, not the more formal writings.

TIA!

vlnrph · February 2017

Did your oncologist suggest that you meet with a genetics counselor? That person can help with the decision to test, interpret results and assist with family notification if needed. Your insurance may allow a broader panel which looks at more than just BRCA. The lab chosen to do the analysis is also very important.

Once a mutation is identified, your relatives can focus on that particular anomaly and hopefully save on the cost.

Your terminology is a little confused but you have grasped most of the concepts pretty well. Referral to someone who specializes in this area is key. They usually have master degrees and stay up to date more easily than a physician who has so much other knowledge to keep fresh. New research is coming out all the time which means it might be good to go to an academic medical center or university cancer clinic for your consultation.

Artista928 · February 2017

Thank you for the info. I've decided not to do it. I talked with my bro who is the only fam member who knows and he said that even if it is +, it wouldn't change any habits in the fam nor would they get tested. He wouldn't. All it would do is create mass panic and anxiety. Plus the additional stress for me of everyone of my bc coming out, which is the very reason why they don't know. They are all over the top anxieties and would just drive me over the edge, and my bro since he's my mom and dad's psychologist with their emotional stuff. He repeated his thoughts twice and asked me not to bother. And I looked at my email to him and saw I left out the 10-15% chance it's in the genes. So this without even knowing that we're 90% chance in the clear.

As for myself, I don't know if I want to know. I'm on meds and disability for major depression and anxiety primarily cause by this fam of mine. Reading my bro's email like I've never seen him respond in a sort of desperation with basically telling me please don't, I can't take it anymore (because mom and dad are a huge handful with anxiety) and the fact that we both know that if I'm + I'd worry until I die---or as it is in this fam, die from worry so to speak.

So thank you for the advice. If I ever change my mind since there is no due date on this, I'll check with a genetic counselor to double check the odds.

Thanks for letting me think this through here!

Hopeful82014 · February 2017

I would simply reiterate VLNRPH'S advice to speak with a genetic counselor if you ever do decide to pursue testing, and to ask whether expanded panel (not just BRCA) is appropriate.

I was tested and am glad to have done so (for a number of reasons). That doesn't mean it's right for everyone, nor does it mean you can't change your mind at some point, even about meeting with a genetic counselor. You may be surprised to know that they are pretty careful about whom the test; not everyone who wants to be tested is approved for testing.

cliff · February 2017

I had the test, because my kids are of child birthing age along with a bunch of cousins. turns out I am the first with breast cancer in my whole family. takes a load off my worries.

Artista928 · February 2017

Thanks ladies. I forgot to note I have no kids which makes it easier on me.

Denise-G · February 2017

Artista928 - I don't have children and was tested. There are many reasons to know if you have a genetic predisposition to any cancer.

My sister and I are Chek 2 delc mutation. There was no family history of breast cancer in our family until 3 of us were diagnosed within 3 years. However, my dad's family was full of other cancers.

I would also encourage you to see a Genetic Counselor. It was a positive experience for me.

Traveltext · February 2017

Artista, Reading your posts, I think you have arrived at the right conclusion. I received an inconclusive BRCA1 test result and therefore no one else in the family wanted to get tested. In your case, a positive result would impact on few others and, as you suggest, cause all sorts of stress.

djmammo · February 2017

Artista

There is a fair amount of information available on line regarding genetic counselling / testing.

Cancer.gov is a good place to start.

Artista928 · February 2017

^^^ My onc gave me the link to cancer.gov where I read about brca's as the most reliable place to get info.

Traveltext- Yep. The more I think about it stresses me out big time should it come back uncertain or +. I'd probably have a big meltdown as I have a history of it, worrying about fam members 24/7 despite reading 15% bc is from heredity. Then my fam. Oh wow. What bro said is nail on the head. No one would run to get tested nor change their present habits. With grandparents having had other cancers, they are aware and are or are not living accordingly. Just would cause massive panic and endless excessive worry about me as stage III vs mom who is DCIS where while they are concerned, they aren't over the top since hers is pre-cancer.

mustlovepoodles · February 2017

Artista, I understand your concerns. Not everyone wants the information.

I opted for expanded testing because I have a strong family history of breast cancer, including male BC, an indicator of possible gene mutation. There are also multiple colon, pancreas, thyroid, uterine, and non-smoking lung cancers. Turns out in BEDS negative, but positive for two very rare gene mutations, PALB2 & Chek2. These genes cause all of the above cancers, including BC. Had I known that I had a 45%+ risk of BC, I would have had preventative BMX.

My adult children have a 50% chance of also having one or both mutations, so they decided to be tested. DS30 was negative for both, but DD was positive for both. Her risk of BC is 58%+. That's a big load on a young lady, but she wanted to know. She has 3 aunts had pre-menopausal BC, including one at age 24. DD will have the advantage of having close surveillance and the opportunity to have preventative treatments.

My mother and 4 siblings are also at 50% risk. My 18 cousins on both sides may also be at risk. So far, only 1sister and 2 cousins have opted for testing. The rest don't want to know, and I respect their decision.

Please help with a few questions..

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