Do these genes make me look cancerous?
September 4, 2011 11:13 AM   Subscribe

A distant cousin (2nd) contacted my sister to tell us that his daughter (3rd cousin) had tested positive for the BRCA2 gene (she doesn't have cancer though). My father died from renal-cell carcinoma and his mother died from some kind of female cancer (the story varies, but it was probably uterine or cervical cancer). Should I, as a male, be worried? Should I bother getting the genetic testing?

Extra details:
-father's cancer was supposedly the 'non-inheritable' kind, though I'm skeptical because of the crappy British Columbia medical system and my experiences with that system and incompetent doctors); my brother and I had ultrasound kidney scans anyways after Dad was diagnosed and everything was OK
-apparently, there is a significant amount of cancer in our extended family (news to me, as we're not really close with our aunts and uncles, let alone extended family and don't know much of Dad's family history as his parents were deceased waaay before I was born).

I know that technically, men can get breast cancer, etc., but do I really need to "worry" about being a carrier (knowing that that doesn't necessarily mean I'm going to get cancer, and given the fact that I won't be having children, unless by adoption)? Would you bother getting the genetic testing done? (I don't even know if it's covered in Ontario). I think I read something that men with the gene who develop prostate cancer have a much worse prognosis.

posted by 1000monkeys to Health & Fitness (10 answers total)
Response by poster: Also: (more importantly) should my sister be concerned? Should she go for testing?
posted by 1000monkeys at 11:13 AM on September 4, 2011

Is there a downside? Is it prohibitively expensive and/or do you (or your sister) not want to know?

It might be a good idea to speak to a genetic counselor first, because they can help with the decisions of what to do if you get a positive or negative result, but for me, personally, if there was even a chance I had it I would get tested, because I'm a want-to-know sort of person, but other people are different.
posted by brainmouse at 11:21 AM on September 4, 2011

IF you had it, you'd have a bigger chance of getting breast cancer (from like 0.02% lifetime chance to like 7% lifetime chance, but don't quote me on those numbers). Also a bigger chance of prostate cancer. (It's a much bigger deal if your sister has it.)

But -- is renal cell carcinoma even one of the cancers that's associated with BRCA2? I don't think that it is. So -- I am not a doctor -- but I wouldn't immediately panic about this. I would probably bring it up with my doctor the next time I got a check-up, and if s/he thinks it's worthwhile, maybe you and your sister could go together to a genetic counselor.

The test is goddamn expensive though. I dunno if you have to pay for it in Canada but the "rights" to the BRCA mutations are owned by this US company named Myriad Genetics and they keep the costs high. It'd be cheaper in you guys' case, though, because your cousin already tested positive so they'd know where on the gene to look for the mutation.
posted by hungrytiger at 11:38 AM on September 4, 2011

Response by poster: brainmouse: I just found out that the testing is fully covered by OHIP, so there's that.

hungrytiger: sorry, no, RCC has absolutely nothing to do with the BRCA mutation (that I know of) but it was suggested in the letter that was forwarded something along the lines of "since there is a significant history of cancer in your family..." but that letter was directed to the female 2nd cousin (she's the 2nd cousin as she's the email sender's sister not his daughter, I was wrong about that).

Perhaps, since the testing is free, I could talk to a genetic counsellor and fill out the questionnaire, and I suppose they could test for the RCC gene at the same time if they think it's worthwhile? I just don't know if it's worth the hassle. Maybe I'll just wait and do one of those 23andme saliva tests that covers the whole gamut (?)--since I'm personally interested in the genetic ancestry part of it.

Open to more thoughts, suggestions, opinions :)
posted by 1000monkeys at 12:19 PM on September 4, 2011

Response by poster: (Also, I just moved here so I don't have a family doctor atm)
posted by 1000monkeys at 12:20 PM on September 4, 2011

Best answer: FWIW, when I got the BRCA test in 2008 (in the US), Myriad charged me $3,300. My insurance covered most of that because I had already been diagnosed with breast cancer. Without a somewhat-close family history, they wouldn't have covered it. I don't know if they require a family history to qualify for the test in Canada. If it's free, I'd say your sister should get tested if she qualifies. There are preventative/proactive measures she can take if she knows she's at a high risk.

Your risk is lower as a man, so I'd consider it somewhat less urgent to get tested. It may come down to whether you'd want to know exactly what your genetic risks are. Some people don't want to know.

I did want to know. I think, especially when you have good, cheap access to all the preventative care (scans, checkups, whatever) your doctor would recommend if you've got genetic risk factors, getting the bad news now when you can do something about it is so much better than waiting to find out whether you grow a tumor someday. And if you're negative for the mutation, then you never have to think about it ever again. Having gotten that phone call, it is so worth it.

A genetic counselor sounds like a really good first step.
posted by katieinshoes at 12:37 PM on September 4, 2011

Response by poster: Thanks katieinshoes and the other responders. Okay, I think what I will do is encourage my sister to go for the testing first and see if anything comes up. If not, I might still eventually get the test done but if she does have the gene, then I'll be sure to get tested right away.
posted by 1000monkeys at 1:20 PM on September 4, 2011

Best answer: I understand why you're worried, but it sounds like a bit of a longshot --- after all, you share only one of your eight great-grandparents with that 2nd cousin: one-eighth of your ancestry is the same as one-eighth of his. And his daughter? One-eighth of your ancestry is the same as one-sixteenth of hers (one of your great-grandparents was her great-great-grandparent). Or in other words, they've got lots of genes not shared with your or your immediate family.

Is it a close enough genetic convergence for you to worry about? I'd say the only concern is if it makes you happier to have the testing, then go for it.
posted by easily confused at 7:29 PM on September 4, 2011

This is why there are genetic counselors. If you discuss your family data with one, you can get their recommendation about getting tested, and ask questions about the tests: What do the tests' cost? How accurate are they? What are the options you would face given different test results? With all that info, you might find it worthwhile to get the tests, or not so much.
posted by exphysicist345 at 10:54 PM on September 4, 2011

My mother had both uterine and breast cancer. After she died I had genetic counseling and testing to see if I was at higher risk, and so my daughter would know about her risk. The genetic counselor explained that having the gene increases risk for BOTH breast and uterine cancer. My test was negative, a relief to both my daughter and me, but unfortunately also showing that women can get both breast and uterine cancer without having the genetic vairiation.
posted by citygirl at 8:28 AM on September 6, 2011

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