Genetic Testing

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM), and VUS (variants of unknown significance)

Important links about Genetic Testing
These Breastcancer.org links may offer helpful information: All about Genetic Testing: Genetics as a Risk Factor Genetic Testing as part of your Pathology Report What to do with your genetic test results Variants of Unknown Significance (VUS) Learning about your family background Genetic testing facilities and cost…
NBN Genetic Mutation...anyone else?
Hello, I was diagnosed with breast cancer at age 29. Genetic testing was brought up shortly after my diagnosis. I decided against it, at the time, for several reasons...the cancer institute in the city I live does not have a genetic counselor so I would have had to travel 5+ hours for this, no family history of breast…
Chemo Sensitivity test
Hi, I’m in NZ - stage 4 lobular snd looking at the tests that tell you what chemo will work. I’ve done Foundation One which my oncologist recommended. I’ve just found out about the Geonostics Exacta Test - snd the Gradient test I’m confused so just wondering if anyone knows what the differences are - or which one is best.…
PALB2 mutation
Anyone else get tested for PALB2 gene mutation?
Preventive Removal of Ovaries, Fallopian Tubes Linked to Better Survival in BRCA+ Breast Cancer
Preventive Removal of Ovaries, Fallopian Tubes Linked to Better Survival in BRCA-Positive Breast Cancer Oct 25, 2023 Removing the healthy ovaries and fallopian tubes improved survival in women with a BRCA mutation who were diagnosed with breast cancer. Read more…
Share your story of Genetic Testing
Dear Members, Would you be willing to share your story about genetic testing? (no pressure, only if you are inspired!) We are interested in the following questions: What led you to doing the testing? What were your results, and what choices have you made based on the findings? Was payment an issue? How have you discussed…
BCO Content: Variants of Unknown Significants (VUS)
Check out our new content on Variants of Unknown Significants (VUS)!
At-Home Genetic Tests Miss Many Mutations
At-Home Genetic Tests Miss Many Mutations Aug 15, 2023 Genetic tests that you can take at home miss more than 90% of BRCA mutations linked to cancer in people without Ashkenazi Jewish heritage. Read more…
BRCA2 but no family history of breast cancer
So my Mum had peritoneal cancer and found out she had the BRCA2 alteration. That's how I have just found out that I have inherited it through genetic testing. We have no history of breast cancer in the family as far as we know, however the Dr's told my mum that they could see that her cancer had developed from her ovaries…
CHEK2 Mutations Linked to Hormone Receptor-Positive Cancer Treatment Resistance in Younger Women
Has anyone had a VUS for VHL ended up with BC ?
Hi Friends ~ While waiting for my BC diagnostic & pathology reports, I paid to have BRCA 1&2 testing done through Life Labs here in 🇨🇦 which use INVITAE in California (I tested negative for both BRCA 1&2) I then had an additional panel evaluate 47 genes & received the following result. "A VUS, identified in VHL. VHL, Exon…
Anyone repeat BRCA2 gene mutation test
I learned through genetic testing after getting diagnosed with IDC that I had the BRCA2 mutation. The genetics counselor said it had to have been passed down from my father or mother and they would have had it passed to them through their parents. My dad died at 47 of a heart attack but my mom died in her 80’s of a…
Obesity May Increase Risk Even More for BRCA+
Obesity May Increase Breast Cancer Risk Even More in Women With BRCA Mutations Mar 22, 2023 Obesity may increase breast cancer risk even more in women with a BRCA mutation, who are already a high-risk group. Read more...
Breast Cancer Risk Remains High for BRCA+ Women After Age 50
Breast Cancer Risk Remains High for Women With BRCA Mutations After Age 50 Mar 2, 2023 Women with BRCA mutations continue to have a higher risk of breast cancer after age 50. Read more...
Anyone with ATM gene variant that decided to have a mastectomy?
Hello everyone. I finished chemo today and now trying to decide between a lumpectomy with radiation or a bilateral mastectomy. I'm seriously thinking about a mastectomy. Would anyone in a similar situation as me be willing to share their feedback on what helped you decide to go for a bilateral mastectomy? How are you…
ATM gene mutation and mastectomy?
Hi all, My name is Silvia , I'm 28 years old and I'm from Italy and I was diagnosed with breast cancer HER2+ stage 2 grade 3 Ki67 30% in March 2022. I'm now under treatment with neoadjuvant chemotherapy and my surgery will schedule in October 2022. I was diagnosed last week with ATM gene mutation. Before the genetic test…
Certain Gene Mutations Increase Risk in Opposite Breast
Women With Certain Genetic Mutations Have Higher Risk of Cancer in Opposite Breast Jan 31, 2023 Mutations in four genes linked to breast cancer greatly increase cancer risk in the opposite breast. Read more...
Medicare and genetic testing
I just was assessed at the high risk breast clinic and one of the recommendations was genetic testing. I'm all for that but I can't find anywhere whether Medicare covers it or now. I'm just wondering if anyone here has experience with that situation? Thank you!
Possible BRIP1 mutation, any help is appreciated.
Hi! I hope it's ok I post here, I am very new so apologies if I do this wrong. I know nobody here is a doctor but I'm looking for any advice I can get right now: I semi recently learned my mother has the BRIP1 mutation, her and her cousin got tested after her cousins brother passed from lymphoma (unrelated) I am very…
Genetic Testing Decision Making & Barriers Youve Faced?
Hi all, We're looking for members to share their experiences with making decisions regarding getting genetic testing and any barriers you have faced in doing so. If you'd be willing to share your story, could you please post here or send us a PM? Thanks in advance!
Breast Cancer Screening Options for Women With ATM, CHEK2, PALB2
Study Suggests Breast Cancer Screening Options for Women With ATM, CHEK2, and PALB2 Mutations Mar 22, 2022 Women with ATM, CHEK2, or PALB2 mutations may benefit from starting annual breast cancer screening with MRI between the ages and 30 to 35 and an annual MRI and mammogram starting at age 40. Read more...
Lynparza Approved To Treat High-Risk, Early-Stage, HER2-, BRCA+
Lynparza Approved To Treat High-Risk, Early-Stage, HER2-Negative Breast Cancer With BRCA Mutation Mar 13, 2022 The FDA approved Lynparza to treat early-stage, HER2-negative breast cancer with a BRCA1 or BRCA2 mutation and a high risk of recurrence, which also has been previously treated with chemotherapy — either before or…
AXIN2 Gene- Do you have it?
So I’m wondering how many of us here have the Axin2 gene? I have it with a variant of unknown significance. But my breast cancer surgeon told me years ago that they are learning new stuff all the time, unlearning other stuff and there is still a lot they still don’t know about breast cancer. Just curious how many of us…
RAD50
Hi everyone I had triple negative bc. Told all clear now and also gene test came back negative for all 20 include brac but was an inconclusive for this RAD one. Do I need be worried? Kind of wish I'd not had it done now. I'm 43. Have a 4 year old. So sick of worrying. Any one else in my situation? Oh I also had a bilateral…
NBN mutation no longer a BC risk. WHAT?!
First my diagnosis was relatively botched. One doctor said HER2+, another triple negative. No consensus. Decision made to do chemo first then reassess to see if lumpectomy appropriate. During chemo I had genetic testing reveal NBN mutation which gave me up to a 30% higher risk of BC. Because of that risk assessment, I…
ATM, the new BRCA?
I was diagnosed with DCIS in February 2015. No breast cancer in my family, but multiple other ones, prostate, lungs, pancreas (father), bladder, throat. My genetic testing came back with this high risk for breast cancer due to a fairly new discovered gene mutation called ATM. Same gene is responsible with pancreatic…
Double mastectomy with PALB2 and early stage BC?
I got diagnosed with stage 2 est + BC last year and unfortunately my gene test of + PALB2 came after my 2nd lumpectomy to get clear margins. I've just finished chemo which was really hard on me and I have a very short window to decide whether I proceed with radiation or go on to have a full risk reducing mastectomy with…
Women With BRCA1 Gene Mutation Have Fewer Eggs in Ovaries
Women With BRCA1 Gene Mutation Have Fewer Eggs in Ovaries July 1, 2021 Women with a mutation in the BRCA1 gene likely have fewer eggs in their ovaries than the average woman, which may shorten their window of opportunity to have children. Read more...
Black Women and Rates of Genetic Mutations vs. White Women
Do Black Women Diagnosed With Breast Cancer Have Higher Rates of Genetic Mutations Than White Women? June 8, 2021 Black women and white women diagnosed with breast cancer have about the same rates of genetic mutations linked to a higher risk of breast cancer. Read more...
BC Risk Drops W/ Proph Salpingo-Oopherectomy in BRCA + Women
Breast Cancer Risk Drops Within 5 Years of Prophylactic Ovary and Fallopian Tube Removal in Women With BRCA Mutations March 11, 2021 Surgery to remove the healthy ovaries and fallopian tubes reduces the risk of breast cancer in women with a BRCA1 or BRCA2 mutation in the first 5 years after surgery. The age at which a…
Listing our BRCA mutations - maybe we can find matches
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

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