Listing our BRCA mutations - maybe we can find matches
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mrdrn,
if you don't mind me asking what is heritage? mine is 1/2 french(father)1/4 german & 1/16 spanish (mother)i read with this mutated gene geers toward austrians aand polish. and far as i know i'm neither one of them. this gene came from my mother's side of the family
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It came from my mothers side...mostly german and slovak
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I am BRCA 1 +, my gene mutation is 4154delA. I know it came from my paternal grandmother. She was 100% Lithuanian. She had breast cancer at 50, ovarian at 70. I am glad to have this info! I read that this mutation is prevalent in the Baltic States. I have done a prophylatic mx on the healthy breast and plan on doing the ooph surgery after completing my reconstruction.
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Interesting topic. All myriad reports DO list the subtype of the BRCA mutation.
The 3 most commonly found in Ashkenazy Jews are:
187delAG brca1 (this was mine)
5385insC brca1
6174delT brca2
Supposedly, certain subgroups can be linked to certain countries or regions of the world (Hungary, Iceland, Morocco etc), but I have not seen a complete list of these regions anywhere else but wikipedia.
What might be also interesting is for people to note their subgroup and their ancestry.
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Cassou1 - the mutations are found in many nations.
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so, so, so ya know how you always have the right questions after the fact? i had a single mx in sept, then met with the oncologist who suggested brca tests.....2 questions on my mind 1) why this wasnt done beforehand, so double could be done, and then i would be thru all at o once (not go thru surgeries 2wice)? 2) i havent gotten my results yet.....is there only onelab that does this? i dont know what the different letters/scores mean? got lotsa generations of russian and some more russian in my pedigree. my mother is dead, dont wanna alarm/ask my sister rtill i have more info.........C L U E L E S S!!
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also, any ideas why noo one suggested this ibefore surger? thinking i could have done a bilateral and reduced any risk. i feel like i have a boomb in my boob ready to explodea at any moment. anyone have a thought about whether being an ashkenosy jew has any moore or less impact on things?
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Mine is BRCA2. Q3066X.
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Bingo, your idea worked. I have the same mutation 4154delA as Cydz. Hopefully we can connect.
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phew
You have good questions because this medical knowledge is a decade old. If it means anything, I KNEW about it, asked for it and my PMD refused to order it ! I knew I needed a hyster from a huge fibroid and had to go to three doctors to justify the need for the surgery!! FINALLY when I had such constipation/urinary retention, they authorized it after I got a urologist and a gyn to sign off. THEN we wonder why health care is so expensive? The gyn was so knowledgeable that she signed to know beforehand if the ovaries/tubes should come out. Then you would think one can get the simple blood test since one already knows about others in the fam with it? NOOOO I HAD to have a big genetic counselor appt and pay more....which I ended up not doing, thank God because I am a nurse, and my family was already in a University Hospital, I just drove 2 hrs and they were happy to see my blood to add to their studies with my family. Their doc was one who was studying the new drugs targeted for these genes! You have to be your own best advocate...my fav saying! BreastCancer.org does this facilitation for people. I avoided extra surgeries, and avoided TE...going to immediate DIEP
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Hi there, BRCA1 917delTT. Ovarian cancer in 2002, genetic testing in 2003, referred to a high risk BC clinic then got it anyway in 2007. Both sisters also the same mutation and my daughter is getting tested later this year. Still have to talk to the boys about it.
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"BRCA1 sequencing identified a presumed deleterious C360X (1199C> A) mutation in the BRCA1 gene, which predicts a premature truncation of the BRCA1 protein at amino acid position 360."
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BRCA1 deleterious mutation - I would have to look through my binder to ger the sequence.
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I am BRCA2+ "unspecified Variant"...whatever the heck that means?
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Sanbar, take a look at your copy of the lab report. All "variants" have their specific names on the test results, and you may be able to find matches with your "genetic sisters" too. (Nothing "unspecified" there, but maybe something with "uncertain significance" ... which means that the variant doesn't look obviously bad but there is no proof that it is good either. The "significance" may be unknown but the name of each variant is known perfectly well. Over time they'll figure it out if the variant was good or bad, and then notify everybody who happened to have the variant with this name)
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I have the "Genetic Variant of Uncertain Clinical Significance" BRCA1 IVS10-15T>A. This was the FIRST OBSERVATION of this variant. wow that makes me feel so special!
After that my father was tested and he had the exact same mutation. He had colon cancer in his 60s followed by bladder cancer in his 70s followed by mets to his blood which he died of in his early 80's.
My mother died at 68 of Creutzfeld Jacob disease . My cousin on my mother's side got BC at age 57. she has two sisters. she should be tested for implications for her sisters but I don't think she/they want to deal with it.
Ditto for my brother...esp because his daughter's, age 23, (my niece) MAT GM died of BC.
The fact that my father had the VUS and also had cancer makes me nervous, esp since I still have one "healthy" breast. Maybe I should encourage my cousin and brother to get tested.
I have a daughter also, age 22. Hard to know what to do.
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also, how do you search on the FORCE website for a match to your mutation? I just looked at their website but didn't see a place to do that...
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BRCA 1+ 2360insC - Deleterious.
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I just wanted to post, because I'm still overwhelmed. I was diagnosed with Deleterios Brca 1 exon 13 ins 6kb a few weeks ago. I am 50 and premenopausal. All of the doctors involved are recommending ooph immediately, then Relaxifin for 5 years, 2 recommend bi yearly mammo's alternating digital then mri until" I get bc, then proceed with double mast. 3 others say ooph and bilateral mastectomy! Wow! I just need more info on this type of mutation and incidence of BC. My maternal grandmother had ovarian and Bc and My fathers 3 sisters have had BC, one at 34 and recurrence at 64 and passed within 6 weeks. both of the other aunts had BC by 45 and are mid 60's with no recurrence. My ooph is scheduled for 07-10-11. where do I go from here?
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BRCA1 Q1200X(3717C>T) Deleterious. ANybody else have this? Report said 20% chance of second breast cancer after first one within 5 years. I was diagnosed with second breast cancer year 8 after first. Also says 44% chance ovarian cancer by age 70. I need to get in for my ooph! Still doing chemo right now.
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I have the same mutation kittycat...had the DIEP in Dec 2009 and ooph/hyst in Sept 09. I am going to be doing a talk for a class room on our particular mutation...trying to find the details.
I am a member of FORCE's site as well as the BRCA Sisterhood on FB. 0 -
missesweetheat , hope the ooph went well. Where do you go from here? It is a personal choice. My sister choose to "monitor" every six months, and I just stared and they found cancer on the MRI but so grateful that it was caught early. It is good that we know about the gene and at the very least get proper monitoring done. I know of MANY who had the bi mx before the dx but you can take your time and decide. I didn't plan to have it so close to my hyster but now glad that it is all behind me. GOOD LUCK and let us know how you do. Sorry your post went unanswered for month.0
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with a brca mutation the older we get the more our chances increase for cancers. Not just breast or ovarian, but pancreatic, gall bladder, and melonoma, and prostrate ca for men...knowing if your positive or not can help you make an informed decision about your future. My father was diagnosed with breast cancer at 72 years of age. He had the genetic testing and tested positive for a BRCA 2 mutation. I had the screening and tested positive as well, my oncologist, family practice, breast surgeon all agreed on risk prevention surgery.
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My father and I both have the BRCA 2 5950 del mutation, he was just diagnosed with breast cancer.
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KKRREN
Sorry to hear that but good thing you know now rather than later. Amazing that you DaD didn't get diagnosed until 76. Do you have others in the fam who passed away from Cancer? You bring up a good point about the other cancers and the risk increasing with age.
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I think this thread is very interesting. I am BRCA 1 positive. The DNA sequence is W1508X. I called Myriad labs and they told me that there was only about 200 people with my sequence data base, so I would really be interested in finding a match for mine. Also, when I called them, I found them to be extremely helpful and informative about the test results.
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That is good to know as well. I did find a match right here at BC.org! But the person hasn't been on is months, and i heard mine was one of the firsts identified.
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mine is 8525delC deleterious
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Does anyone else find it disturbing that Myriad ' owns' our BRCA genes? The ACLU is trying to over turn their right to patent genes but as of now they do. I have a ' variance' on my BRCA 1 and they want to test 4 family members at no charge.....now I no why...So they can patent whatever mutation it turns out to be.....hmmmmm.
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I guess I should explain why I think it's disturbing. It prevents any other institution, university or any organization from doing research on the BRCA's. Ultimately could slow the process of understanding these mutations. ;/
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