Listing our BRCA mutations - maybe we can find matches
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BRCA1- 2517del4
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What if we come across our match? What would this mean? Just curious
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I would like to find a match and then compare how the cancer acts and what treatments have been effective. I'm hoping to learn something that would help my family and the matching family.
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I'm brca2+ 886delGT. Supposedly more prevelant in Hispanic populations, but my brca2 gene is German.
I've found various scholarly articles mentioning this particular mutation and it is interesting to see age of onset when family trees are posted, whether primarily breast or ovarian (very much breast for this mutation). Because brca2 has a complement of other cancer risks, it is also curious to see which ones show up with this mutation. "Gastric" cancers are sometimes mentioned with this mutation and my grandfather died of "stomach cancer" in 1925, at age 42. Did they really know? Could have been pancreatic, which is one of the cancers for brca2, besides melanoma, but "gastric" fits.
If someone else has this particular mutation, other than my grandfather, 5 females, ER+, menopause onset. I would add left upper outer quadrant, but that's just a strange coincidence. At this point, still questioning, though, if it didn't come from grandmother's side. Lots of cancer, but of unknown type (could be ovarian, breast or colon) and since finding out about the gene, all that would know are long gone.
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Christy, I think it's a great idea. How can we go about finding matches (out there)?
I am brac 2+ and have had thyroid cancer, cancer cut out of my leg and my tumor markers have been elevated. I forgot the name, but it's the liver and pancreas one.
Would really like to compare0 -
Kam, my family and I are also brca2+ 886delGT. Both of my moms sisters with Breast ca (one ER/PR+, diagnosed Left upper quad of breast) and the second triple negative). I have a Middle Eastern background. lots of other cancers in the family.
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I just found this topic and I know your post was from over 2 years ago but I am BRCA1+ with the mutation C61G (300>G)
In Nov. 2011, mammo was clean. Three weeks later, I felt a lump. By February 6, 2012, I had three tumors, Stage 2B, Grade 3 with lymph node involvement. I'm having implants removed, then DIEP with fat grafting.
I hope you may still be connected to this forum and that we may be able to help each other with information.
Sadly, I don't know much since I can only trace my family history back to the late 1800s, and that's only on my Mother's side.
I know of no Polish, Jewish, Hungarian, nor Latvian ancestry, which are the nationalities I have come across with this mutation.
Hope you're still here...
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I continue to monitor this thread in hopes that someone will one day post that they are a match to my family's mutation. But I also hope that ladies may meet others who match their mutation so they can share information and possibly learn from one another.
If I met someone with my mutation I would want to discuss our histories and our treatments. What worked and what didn't. I have since progressed from my original stage III to stage IV. I have only been stage IV for a year but we are still looking for a treatment that will work for a long time. Hoping that the trial I just started last Friday will be the answer. If not, then we keep trying treatments trying to find the ones that work to regress my cancer and keep me stable for as long as possible.
Thank you to all the ladies who add their mutation and continue to watch for matches. The more information we can share with each other, the smarter we will be!0 -
I started another thread about sharing information about BRCA mutations...
http://community.breastcancer.org/forum/112/topic/806770?page=1#post_3605810
I tested negative but posted this on behalf of everyone who's tested positive/VUS. Myriad seems intent on keeping the data it's collected over the years as a trade secret instead of sharing it with other cancer researchers. Fortunately you all own your test results and are free to share them if you choose. Please consider doing so.0 -
My deleterious mutation is BRCA2 4613insT. It also has the designations c.4613_4614insT and c.4385dupT. I tested positive for it in March 2013, at 48 years of age. Myriad Genetics, who performed the test, had not found this mutation in anyone else before me. I haven't found a single mention of it on the internet, and it is not included in the BIC database. It seems to be a rare mutation, and if someone else carries it, we may very likely be related. I'd appreciate it very much if anyone else, who discovers they have the same mutation, would reply here. I hope to find out from which side of my family I inherited it from. I have German ancestry on both sides.0 -
brca1 5385insC also known as 5382insC or c.5266.dupC depending on which lab runs the test - same as slickchickie17 and TasiaB :-)
I'm surprised by the diversity of different mutation sites reported here. I never knew there were so many!0 -
BRCA1 Y978X(3053t >G)0 -
BRCA2 L1053X (3386T>G)0 -
BRCA1 - 5385insC deleterious (also known as 5382insC)
Age at dx 36, 18 tumors in one breast, nationality - Estonian (Baltics). Family history - fraternal grandmother breast cancer and her sisters breast and ovarian cancer.
This is supposed to be one of the "founder genes" often found in Ashkenazi jewish families, but we had no clue about our jewish heritage. I'm still trying to get my family to go get tested (what an ordeal that is - people just love to live in denial).
I did not read all the posts but as far as the people who are wondering about their gene without family history of BC - it could have come down from male lines (your father got it from his grandfather), and while there are increased risks to males from these genes the likelihood does not even come close to the 87% chance for female BC.0 -
I thought all of the risks for men were from the brca2+ line; not brca1+ line. Could be wrong about that.
Recently, my cousin, who had BC, tested negative for the brca2+, while both of our mothers had BC (long ago, before brca testing) and one other sister. I am positive, and so far, the only one testing that way out of 4, thus far. Saw this posted on BCO the other day:
Breast cancer study findings: The "why" behind high cholesterol link; negative BRCA2 result not an "all clear' sign
The researchers found that women from those families who tested negative for BRCA2 mutations have more than four times the risk for developing breast cancer than a woman of average risk. The increased risk is largely limited to BRCA2 families, and did not extend to BRCA1 families.
“It is likely that these women inherit genetic factors other than BRCA-related genes that increase their breast cancer risk,” Gareth Evans, honorary professor of medical genetics and cancer epidemiology at the Manchester Academic Health Science Center at the University of Manchester in the United Kingdom, said in a statement.
Given the findings, oncologists should use caution when stating that a woman’s breast cancer risk is the same as that of the general population following a negative test, the study authors said.
In other words, even if a family member tests negative for brca2+, in a family of brca2+ individuals, their risk for BC can still be higher than the general population. So much for denial.
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Inks - welcome to the club that nobody really wants to belong to! My family's not Jewish either, and we have the same mutation. Apparently 5385insC shows up in other ethnic groups too. According to Ambry: "This alteration is one of the well-known Ashkenazi Jewish founder mutations, with an overall carrier frequency of nearly 0.5% in this population, but has also been shown to occur at high frequency in many other European populations."
Check out this helpful study: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062007/
One good thing, though: Since this is one of the well-known Ashkenazi Jewish founder mutations, it's been studied more than most of the BRCA1 mutations. That could be helpful at some point, right? If you search the web for 5385insC and 5382insC, you'll find a number of studies.
Kam170 - men with BRCA1 do have an increased risk of some cancers, including breast and prostate cancer. For example:
http://www.medicalnewstoday.com/articles/244467.php and http://www.ncbi.nlm.nih.gov/pubmed/14966099
My GC did recommend some additional screening for men in our family with BRCA1 mutations:
* Monthly self breast exam starting at age 35.
* Clinical breast exam every 6-12 months starting at age 35.
* Consider baseline mammogram at age 40.
* Adhere to prostate cancer screening guidelines offering digital rectal exam and Prostate specific antigen testing at age 40.
We definitely let the men in our family know too, so they could bring those recommendations to their doctors and decide what to do.
I'll start (or bump up) another thread about men and BRCA mutations. It should be interesting.0 -
Hi, I have the BRCA2 exon 11 c.3170_3174delAGAAA also known as 3398delAGAAA (whatever that means!) mutation. I have a French Canadian background.0 -
otceb,
If you *really* want to know more, get ready for some hefty scientific reading!
This is a good start: http://en.wikipedia.org/wiki/Frameshift_mutation
"del" means deletion, so I believe that means your DNA sequence is missing 5 bases: "AGAAA", compared to a "normal" BRCA2 gene. 5 missing bases is NOT divisible by 3, so it looks like a frameshift mutation. I have another type of frameshift mutation, an extra "C".
A frameshift mutation will often damage a gene, so it won't work properly. We each have some mutations in our DNA; it's just that some of them cause more trouble than others.
BRCA1 and BRCA2 genes are good, and we want them to work properly. They help cells repair themselves when their genes are damaged. That's why it's not technically correct to say you have "BRCA1" or "BRCA2", because everyone has those genes. However, people do it all the time, and we all know what they are trying to say. (To be technically correct, you could say you have an "alteration" or a "mutation" in the BRCA1 or BRCA2 gene.)
The rest of what I know, beyond basic genetics, is mostly in the article above, and here: http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA
You sometimes see two or more names for the same mutation because different naming standards start counting at different points in the gene:
http://www.gtmedical.com.au/resource/BRCAOrderForms/BRCATestInfo.pdf - see "Description of Nomenclature".
Hope this helps a little. ;-)0 -
Hi sabihah, thank you so much for the information and taking the time to post this, it helps!0 -
otceb, it's also called 3398del5 in the US. Like in comments to this blog entry on this same topic:
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hi..
recently found this thread along with one more where we are discussing our mutations
i got this mutation called g17113A>C, in brac2 report and says this is of unknown clinical significance. Got 2 more mutations in brac2 which says no clinical significance. what does it mean..one mutation they dont know what it is contributing to and another two mutations they see but its not contributing to cancer, then what is it contributing to?
i have no family history..apart from a very distant relative ( grand daughter of my maternal grandmother's sister) who got ovarian cancer twice.
this particular mutation, sounds fishy to me...
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I am BRCA1 positive 3875del4
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So... I ran a search for my BRCA results, and the first website Google brought up was my post right here on this thread. There were only one or two other websites, and they didn't tell me much of anything. So... since I don't see a match here, I'm going to delete my results from this thread. Otherwise, anyone who knows my test results might figure out who I am here, and there are some personal thoughts that I want to share only with other BC survivors.
Just sending this message to all of you in case the same thing happens with your results.
Latest Update: Unfortunately, even after deleting my message, it still appears at the top of the list of search results. Hopefully, it will disappear eventually...
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BRCA1 2800delAA, 4+ year ovarian cancer survivor and now a new mass on my last annual breast MRI
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I received a finding of - BRCA1 T1194I (3700C>T) - variant of uncertain significance.
At the time of my testing, April 2013, 4 others had this variant - all of Western European ancestry. My mother and father were tested and my Mom has the same variant and has never had breast cancer (age 77). My first cousin on my mothers side had breast cancer at age 42 and had her ovaries removed. My cousin is trying to find her report yet does not think they did full sequencing (and she was tested 13 years ago). I was 49 when diagnosed. It would help to know if these others with the same variant all had breast cancer or not. I have looked on the FORCE site yet cannot find the site to see if others have the same variant.
Right now I am thinking about getting ovarian cancer screening yet from what I have read this does not seem to be very helpful. I just had my mammogram and needed to have a biopsy of my left breast - thankfully came back B9 on Friday!
I have been reading these discussion boards for a year now and it has provided great support. This is my first time posting.
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I am BRCA2 positive. My mutation is 4075delGT.
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Here is an article that some of you may appreciate:
http://www.medscape.com/viewarticle/822136?src=confwrap&uac=17589HT
The takeaway? "If doctors don't get 'genomified,' their patients will."
I am so grateful to celebrate my fourth year post early dx thanks to those who came before me and discovered the BRCA gene and it's implications.0 -
Hi
BRCA2 variant of substitution of asparagus for lushness at amino acid position 3059
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My mother is an ethnic German, raised in Yugoslavia. My father was an American soldier stationed in Europe. They didn't stay together very long and I born and raised in Germany. I moved to the U.S. when I was a kid. Growing up, my sports were football (the real kind, not the NFL) bicycle racing and mountaineering. I always viewed myself as German. ... well, until I got breast cancer.
My mutation is 8765delAG ... dominant in those of French-Canadian heritage.
Damn. Am I supposed to start liking hockey now?0 -
Charles, you have a great sense of humor. :-) Best wishes to you!
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