Posted on: Apr 19, 2010 11:29 AM
My idea is that we can use this topic to post our genetic mutation on the off chance that we can find someone else with the same mutation. I realize that this is a long shot because there are so many variations, but what the heck? I tried searching FORCE for mine with no luck.
Here's my family's:
BRCA2 - 2024del5
Posts 91 - 120 (137 total)
Dec 22, 2011 01:51 PM journey4life wrote:
I am new to this site and am hoping to find support from women who have been and/or are going through what I'm facing. I am BRCA1+ and in about a month, I'll have bilateral mastectomies, oophorectomy, lymph node dissection and possibly some type of breast reconstruction.
I don't know what my BRCA mutation identifier is. How do I find out?
Any advice for how to keep it all together until and after surgery??
Dec 22, 2011 02:17 PM MiniMacsMom wrote:
Lisa: Miriad, the company who runs the genetic tests sends a copy of your results with your specific mutation to your doctors and genetic counsellor. So you could ask your doctors for a copy or call Miriad. You may have to send/fax a release for to Miriad, but its just a one page print off. Good luck.
Dec 23, 2011 08:57 PM Maya847 wrote:
Hello all, I found out earlier this week I am BRCA2 + at 9900insA deletrious. Have not actually been able to sit down and talk to my oncologist about the results yet. I still have two more chemo treatments left and was suppose to have radiation following that...but now am wondering if I will still have to do that. Does anyone know the significance of being BRCA2+ and triple negative? Have no idea what I will do yet, but assume surgery is in my near future. oh yea...another question I have is does anyone know if they can specifically tell if my current breast cancer is related to the mutation? This is all so confusing!
Dec 23, 2011 09:58 PM hrf wrote:
Hi Maya. Even though my onc is a specialist in BRCA, the only thing that seems to be an issue is that having BRCA makes us high risk for breast and ovarian cancer as well as melanoma and pancreatic cancer. Not sure about colon. So I have to get checked and of course had to do surgeries. No screening for pancreatic that I know of. I'm BRCA2 and also had a TN. Didn't change the treatment in any way that I know of. Being BRCA+ makes you very high risk for bc - what else do you need to know? I'm not sure that I understand your question. I've had bc 2 times. One was TN and one was ES+ I'm 6174 del T but my onc has never used that information for tx decisions or anything else.
Dec 23, 2011 10:29 PM MiniMacsMom wrote:
I have a post on the Stg 3 forums about being BRCA 2 Pos and it was a surprise. Some of the other women have responded that there are studies that show BRCA mutations can sometimes respond well to PARP inhibitors and other Chemos, but I think those are mroe in the trial phases. My onc in MDA said that the only thing BRCA might affect would be the additional surgeries. If you are interested though you can search BRCA and PARP inhibitors in pubmed, or other journal search engines.
Dec 24, 2011 03:58 AM thatsvanity wrote:
Can you explain further? I threw away my BRACA paperwork testing results when it was negative. Where would I find all of my genetics to cross reference with other people? Sounds cool though...
Dec 24, 2011 09:09 AM Maya847 wrote:
Thanks hrf, I just meant knowing now that I was BRCA+, I would most likely be having double mast and ooph. Prior to this test I was scheduled to complete chemo and do radiation. I originally had a lumpectomy. I have not talked to my onc yet, but I am assuming I will not be doing radiation? Do most people on this site get second opinions prior to doing the surgery or is it pretty much a given that surgery should be done?
Dec 27, 2011 05:08 PM, edited Dec 27, 2011 05:12 PM by Kam170Maya - I found out I was BRCA2 a week before my scheduled lumpectomy/rad operation. I cancelled, reconsulted with BS, ONC and PS, and they scheduled me for a SNB last week. My SN was totally clear. I was told by my BS, with a MX, or BMX (which I am doing), and clear node(s), I would NOT need radiation. It is my understanding that LUMP always has RADS.
Dec 29, 2011 01:03 PM journey4life wrote:
I am BRCA1+ and both SO and MO recommended BMX which doesn't require rads because there is no tissue left. However, I have at least 1 + lymph node so I'll undergo dissection and will have rads to that site only after chemo is finished. By the way, it was also recommended that I have an ooph. Surgery date hasn't been set yet.
Jan 2, 2012 05:06 PM shawna32 wrote:
Hi my name is Shawna i too was tested posative for the BRCA 1 gene..my docters advise a mastectomy and hysterectomy...Most of my family are against it and think its foolish ..I think they would rather have the cancer hit..Im 32...My grandmother died at age 33 due to ovarian cancer and my aunt had breast cancer at age 33 and had to have mastectomy as well as chemo and radiation..im opting for the procedures my life is great why would i wanna chance it,,but as for my family alittle support would be nice..My husband ,sister and father have been great so atleast i have them,,but anyone else have the same story?..Just curiuos its always nice to talk with someone in the same boat
Jan 9, 2012 12:21 AM MRDRN wrote:
I haven't been on here in awhile but gosh, the doc's didn't want to do the test on me either! It is WRONG! Everyone will tell you that it is better to dx EARLY and be PROACTIVE ! There is a law preventing discrimination against the BRCA gene. I honestly think that if she wants it, she should push for it but that is just me. I was able to dx my cancer before it got to the nodes. Still, I know others who opted for bi proph mx's. Good luck and let us know any follow ups. It help everyone here.
Jan 15, 2012 05:01 PM, edited Jan 16, 2012 01:12 AM by Moderators
My name is Michelle too, and I am brca2+ 5057delTG. I am in Kansas City, MO. My email is (deleted). I would love to talk.
Edited by BCO Mods to remove member's private email address. We strongly recommend exchanging personal information only in private messages, and only with others you know and trust.
Feb 4, 2012 10:17 AM Karmil710 wrote:
I tested positive for the BRCA2 mutation. Specifically, 6174delT.
My mother had BC in her 40's and tested (-) for the BRCA gene. After I was dxed w/BC I found out that many people on my father's side of the family were BRCA2(+). My sister has the same mutation, as does about a dozen of my cousins, aunts and uncles.
Feb 4, 2012 10:27 AM, edited May 4, 2012 02:03 PM by hrf
Surveillance is not a guarantee that bc will be caught early and before lymph node involvement. I can tell you that from experience. It does not work!!!! So you are just fooling yourself if you think that route will save you. As far as radiation - even with bmx, some women still get radiation especially if lymph nodes are involved ... I also learned that from experience. Each case is different and this disease follows no rules. Many women in my family are BRCA2+ - 6174delT and everyone who is has had breast cancer. The odds are stacked against us. My suggestion is to check out the FORCE website as it is devoted entirely to hereditary bc. Also they have now created a data base regarding the different mutations .. I have entered my data there. It's worth checking out their website if you have not already done so.
Feb 6, 2012 12:04 AM MRDRN wrote:
Hi there. I don't go to the FORCE website because when i did and was told of local support groups, there were none and then the coordinator said I needed to "RAISE funds" to coordinate one of my own. This just did not sit right with me.
Perhaps i can keep track of the list by periodically checking here or we can ask the MODS if they can suggest a tracking system here?
Mar 13, 2012 09:41 PM BRCAmomof2 wrote:
Father - deceased, pancreatic cancer 47
Father's mother - deceased, ovarian cancer 43
Parental half sister - alive, breast cancer 31 (stage V, ductal) 42 (stage 2, lobular)
Parental half- brother's daughter (niece) - alive, breast cancer 22 (DCIS)
multiple extended family members with breast cancer, perhaps other cancers as well
Apr 11, 2012 01:07 AM, edited Apr 11, 2012 01:08 AM by isee
Exon 11 of BRCA2 (c.5576_5579delTTAA)
It don't think anyone else that has posted in this thread noted the same mutation as mine. So I guess the way this works is that any relative of mine who also has BRCA2 has the same mutation? It says this is a four base deletion...is this worse then a one base deletion??? Does anyone know? I was dx with ITC BC last Feb.
Apr 13, 2012 11:23 AM Mutd wrote:
isee, it is a common mutation but most sisters here got tested in the US, where the numbering system is different. Here it would be called 5804del4. In the UK and some other places, the labs switched to a more recently invented nomenclature, but the US continues to use the original numbers.
Apr 19, 2012 09:27 AM Karenr1028c wrote:
Does anyone have the r1028c variant of the BRCA1 gene? So far, of the four people in my family with BC, including myself, we all have it but Myriad doesn't have enough data on it to know for sure that there's a connection. Of course, we think there is.
Apr 20, 2012 10:24 AM Mutd wrote:
Karen, a possible BRCA1 connection is a scary thing, and a gene variant studied in one family may stay uncertain for years if all the data's been collected and there isn't more to come :(
There are a few additional clues which might help you decide if your family history really looks like BRCA1+. If the other cancers were TN or ER-/PR-, then it is a strong hint that BRCA1 may have been involved. If there were any ovarian cancers in addition, it'd also add weight to the BRCA possibility. But if the other cancers struck in the distant family but spared more close relatives, then it might sometimes be a clue that BRCA1 isn't the culprit (because it spares few women who have it)