BRCA1/2 follow up

new_direction

I would like to hear from anyone with BRCA1/2 mutation and what kind of follow up has been recommended, and what about other cancer types?

Veeder14

Hi New Direction

Dx with BRAC2 in 2016. Already had Melanoma which I didn’t know I had. Had surgery. Follow ups with PET scans and dermatology exams. BRAC is high risk for both Melanoma and breast cancer. Began breast MRI’s, first one negative. A year later, MRI positive for ILC. Had surgery, radiation, and anti estrogen treatmen and continue with yearly MRI. Also, yearly mammograms however the cancer only showed up on MRI. Had hysterectomy and ovaries removed after starting Tamoxifen.

Anonymous

I didn't realise that brca was a risk for melanoma. I had a surprise Brca1 postive after diagnosis and no one can figure out where this came from because there is zero family history on both sides of either OC or BC cancers. However, my maternal grandfather died of melanoma (though he was a red head and fair skin and had a specific incident of sunburn when he was very small). He died in the mid 80s, though, before all this genetic stuff was a thing.

I'd be interested to see any further information you may know about?

2019whatayear

According to my dermatologist, no higher risk for melanoma for me a BRCA-2 mutant.

Here is an article from the NIH - I cut and pasted the most imp. part:

No studies have shown a statistically significant risk of melanoma in BRCA1 families. BRCA2 mutations have been linked to melanoma in large breast and ovarian cancer families, though a statistically significant elevated risk was reported in only one study. Five additional studies have shown some association between BRCA2 mutations and melanoma, while four studies did not find any association. With respect to nonmelanoma skin cancers, studies have produced conflicting results. Given the current state of medical knowledge, there is insufficient evidence to warrant increased skin cancer surveillance of patients with a confirmed BRCA1/2 mutation or a family history of a BRCA1/2 mutation, in the absence of standard risk factors. Nonetheless, suspected BRCA1/2 mutation carriers should be counseled about skin cancer risks and may benefit from yearly full skin examinations.

And here is the link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC57850...

******

I have a BRCA-2 mutation. in the known family tree the only other for sure cancer was my paternal grandma who died from ovarian cancer in the late 80s. But my family tree has more male offspring which can sort of hide the BRCA -2 . (less women getting cancer) Any who since I had breast cancer I had a preventative BSO. I go to a dermatologist annually (no more than would be done anyway) Had a colonoscopy this year (turned 50, would have had anyway) Annual gynie appt (pap smear- same as no cancer). BUT for the breast cancer b/c of the BRCA-2 mutation my MO is going well past the recommended post-cancer surveillance. Quarterly in person appts w/blood work (CMP, CBC, and CA- 27/29) and 6 months CT scans. (chest, pelvis & abdomen) --I am 2 years out. This is what it is for now for me.

I had a BMX when I was diagnosed.

Okay hope that helps!

new_direction

Thank you all for your replies. I have BRCA 2 mut. but realise there is no follow up after I have had the profylactic surgeries done. I asked for a hysterectomy but was told the risk of complications were higher than the benefits... Would have liked to anyways.

It seems the breast, ovary and prostate are the most common but there are other cancer forms too, that we are much more at risk of getting.
Its concerning... Maybe pay for a yearly control full body MR scan from 50 years and on? and check all birthmarks every 3 month? Next concern is the kids, but at least this gene has been exposed and will end from now on.

BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer - GeneReviews® - NCBI Bookshelf (nih.gov)

ShyViolet

Hi New Direction, I have the BRCA2 mutation unfortunately. I don't have much of a family history but my mom had breast cancer and then 6 years later got pancreatic cancer. Also, my aunt had died of pancreatic cancer a few years before so my mom got genetic testing. I also have it, my sister does not. Another aunt and uncle have also tested positive for it but so far no cancer for them.

The recommended follow up for me was to have a mammogram and mri yearly, 6 months apart. They also recommended a prophylactic mastectomy and to have my ovaries and tubes or at least my tubes removed for now. Unfortunately I didn't get a chance to do anything preventative. Took some time to mourn my mom and spent 6 months going through her stuff and selling the house then covid hit and all non emergency appointments were cancelled. Finally went for my first screening mammogram in Dec and I have Stage 4 breast cancer

I was also referred to a GI specialist for pancreatic cancer screening (which there isn't much) and had a phone appointment and he said my risk is super low until my 50's so we'll follow up again in 5 years and that was that.

So for right now, since I'm stage 4 they are not removing the breasts but they do want to remove my ovaries and tubes at some point but not in a rush since I'm on ovary suppressants. For pancreatic cancer, since I'm getting regular CT scans they should be able to see anything new pop up there but otherwise I think and MRI is the routine screening for that.

It sounds like you already did the prophylactic mastectomy? I think that is the most important step. After that I would push for ovary and tube removal since that is a risk for both ovarian and breast cancer since breast cancer is often estrogen fed. And I think a yearly MRI is reasonable. I hope that helps answer your questions a bit. The only advice I can really give to everyone is don't wait! I never expected to get cancer in my 30's and I'm absolutely heart broken. I thought I had time to get my prophylactic surgeries and start screening but I didn't even get a chance to prevent it. I'm also worried for my children if they will inherit this gene from me.

new_direction

Hi ShyViolet. Thank you for your answer. I'm really sorry for your loss and your diagnosis. I can't imagine what you are going though but it must be so hard both losing a parent and dealing with breast cancer at the same time. I hope you get support both from your familiy and professionally.
My diagnosis was one year later than my symptoms began but my general practitioner didn't believe the symptoms had anything to do with cancer until there was an actual lump. The BRCA2 mut was found because of my breastcancer so up until then we had not thought much about cancer in my family. I blamed myself for so long that i i began ignoring the ongoing symptoms when my gp didnt want to help me.

Sounds like you were asymptomatic?

I have heard good about PARP inhibitor treatment for BRCA mut. breastcancer.

I too worry about my children but i hope treatment options and early detection keep getting better.

Take care.