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Blossom59's avatar
Blossom59
Member
12 years ago

Genetic Testing

I have only 1 first cousin at age 45 and an Aunt 60 with breast cancer.  In my mothers generation there are 11 cousins, 4 with bowel cancer, the aunt with breast cancer, an aunt with uterus cancer, one pancreatic cancer, aunt with Hodgkins Lymphoma, one pancreatic cancer. And lucky last has the Bowel Cancer Gene. Have I lost you yet???   I'm confused so don't worry if you are on reading this.  Let me just say lots of Cancers with bowel being the dominant one.

Now in my generation 6 grandaughters, 4 with cancer - 66%.  all in 40's when diagnosed 1 bowel, 2 breast (me) and 1 lung cancer.  Lots of cousins with polyps removed (these are the nasties that turn into cancer, this includes me).

 I have seen the Genetics team in Melbourne but they cannot see any connection with the breast and bowel cancers, so at this stage they are not testing for genetics. They only seemed interested in the bowel cancers, especially as one has tested positive to a rare gene.

I found this article interesting and will bring it up with the Victorian genetics team when I next speak to them.

http://www.cancercouncil.com.au/72225/cancer-information/cancer-research-cancer-type/latest-research/a-new-cause-of-familial-bowel-cancer/?pp=32254&cc=7853&&ct=2

Just wondering if anyone else has information about this?  

Candy

21 Replies

  • Hi Donna, I have two cousins (brother and sister) with renal cancer - because of my test results, they will be offered testing for the BRCA2 gene mutation.  It may or may not be related to breast cancer, but I'm sure there will be a link, even if they haven't found it yet.  What a double whammy for you;  I hope you're OK at the moment.

  • "bad luck"??? who are they kidding.  it makes me cranky.  I just looked at my consent form for the testing;  and they ticked the box for "hereditary breast/ovarian cancer", but there is a box underneath is for "hereditary bowel cancer";  so obviously there is a test for that as well.  I know what you mean about reacting to the positive gene test result  (I"m assuming here you are referring to the medical profession).  That is why it was a relief for me for the test to come back positive with the BRCA2 mutation;  doctors sit up and take notice of that;  but if it had come back as "uninformative" (the term they use) they don't take notice of affected families' anecdoctal information - and they should!

     

  • Even though my sister at 46, our mum, and mums brother were dx with bowel cancer my surgeon said for me to be tested every 5 years.  This was a bit of a worry for me, then I mentioned the one cousin who had this bowel cancer gene and everyone was looking worried and I was put on to the every 2 year check.  To me the immediate family members should have raised the worry factor, but they seem to react more when you mention the positive gene result. Now on the other hand when I mentioned 1st cousin early 40's and myself late 40's and aunt with breast cancer and another with uterus cancer, they say it's just bad luck.  

    Candy 

  • I live in Melbourne and had genetic testing through the familial clinic at Monash. Whilst my family tree is dotted with cancers they were only interested in Breast and Ovarian cancers. Interesting as I had both breast and renal cancer at the same time, theya re not related in any way.

    I was all clear on BRACA1 & 2 however they deem my family to be high risk so my daughter is required to have a yearly MRI breast screen.

    Donna

  • I live in Melbourne and had genetic testing through the familial clinic at Monash. Whilst my family tree is dotted with cancers they were only interested in Breast and Ovarian cancers. Interesting as I had both breast and renal cancer at the same time, theya re not related in any way.

    I was all clear on BRACA1 & 2 however they deem my family to be high risk so my daughter is required to have a yearly MRI breast screen.

    Donna

  • Hi Candy, I live in regional NSW, have seen the counsellor in person but have only spoken to the professor via teleconference (which is quite OK).  Have an appt with the gynae-oncologist at the end of September (also via teleconference) and will go to Newcastle for the surgery.  I think there might be another mutation linked with bowel cancer, and I don't really know much about that at all;  but I would be pushing re the three breast cancers and uterine cancer;  in my mind, they would have to be related.  Easier said than done, I know.  It's like talking to a brick wall.  I was astounded at the reaction from my oncologist;  he pretty much dismissed it out of hand;  no, breast/prostate cancer are not linked...well they are, and you can actually find it on Google!  I will be having an interesting chat with him at my next appointment.    Hang in there.  Bella.

  • Thankks Bella,

    Can I as what state you live in? I saw the team at the Austin Hospital in Melbourne. They seemed to think that the three breast cancers and uterus were not genetic, but the bowel cancers were interesting?

    Bella

  • Hi Candygirl,

    That link is very interesting, thank you.  It seems to back up information that we (my family) believe is the case. 

    For info, the cancers our family has had include, breast, prostate, renal, thyroid bladder, with more than one incidence of each type.  My cousin (who has had renal and thyroid cancers - both primaries) said her endocrinologist has suddenly sat up and taken notice;  and is talking about another test?  Im not exactly sure, it's all quite recent.  What I have found out is the BRCA2 mutation that I have tested positive for (and I'm sure the BRCA1 mutation) prevents the genes doing the repair work that they're supposed to do, and therefore things like cancer get out of hand.  It seems logical to me, that it would not be restricted to breast and prostate cancers (which are the ones they're currently linked to), but could possibly have a hand in all cancers...but the doctors/scientists researchers, haven't proven that yet.  I have found the medical profession is very reluctant to take on anything that hasn't been proven.  It seems like we are being kept in the dark.  

     

  • Hi Candygirl,

    That link is very interesting, thank you.  It seems to back up information that we (my family) believe is the case. 

    For info, the cancers our family has had include, breast, prostate, renal, thyroid bladder, with more than one incidence of each type.  My cousin (who has had renal and thyroid cancers - both primaries) said her endocrinologist has suddenly sat up and taken notice;  and is talking about another test?  Im not exactly sure, it's all quite recent.  What I have found out is the BRCA2 mutation that I have tested positive for (and I'm sure the BRCA1 mutation) prevents the genes doing the repair work that they're supposed to do, and therefore things like cancer get out of hand.  It seems logical to me, that it would not be restricted to breast and prostate cancers (which are the ones they're currently linked to), but could possibly have a hand in all cancers...but the doctors/scientists researchers, haven't proven that yet.  I have found the medical profession is very reluctant to take on anything that hasn't been proven.  It seems like we are being kept in the dark.