High Risk Mutation (ie. BRCA, ATM, RAD51D)

ATM mutation here, with pancreatic cancer. Dad and brother both have the same, but my son does not. Grandparents(s) probably did too, as two of them had digestive cancers.

Living in FL, couldn't join other meetings unless connected by Zoom, but definitely interested.

With the advances in "tumor agnostic" therapies targeting mutations instead of specific tissue/organ of cancer origin, knowledge of how cancer survivors with similar mutations are being treated could be very helpful.

BRCA, PALB2, ATM, are all fairly similar in targetability, as I understand it. I've heard BRCA1/2 and PALB2 mutations have Lynparza (PARP inhibitor) approved as a maintenance therapy in PC, but waiting to see if it will also be approved for PC or be available off-label or as a trial.

I have the BRCA1 mutation. I found out at age 66. I have the salpingo-oopherectomy w/hysterectomy in May. My recovery went well. Now I'm deciding whether to have the bilateral mastectomy. I've found out that, at my age (just turned 67 yesterday), my risk of getting breast cancer is 28-32%. I was operating under the assumption that my risk was 60-70%, but that is lifetime risk, and according the the chart used at Mayo Clinic and Stanford, the risk goes down as you age. Unfortunately, the charts don't take into account family history of first-degree relatives who have gotten cancer (I have a few, but either they were not tested for mutation or they were tested but were negative.) I'm really in a quandry about having the surgery. The genetics counselor I met with initially was also unable to establish a clear increased risk based on the information I gave her about my family history. Any input or guidance is appreciated!

Hello and thank you for starting the Mutation group! I am positive BRIP1, I haven’t met anybody else who is. Apparently it’s related to BRCA1… diagnosed 3C HGSC ovarian cancer, 7/20. Still alive and kicking!…ca125 just jumped up 4 points over last three months, 0NC visit next week. Fingers crossed!

Hi Jane,
I have BRCA2 mutation and got breast cancer at age 66. I’ve since had a bilateral mastectomy. I found a lot of helpful information at force.org. Facing our risk of Cancer Empowered. Maybe you could find more information there to help with your decision. My daughter also has the BRCA2 gene and decided to have the BSO and a prophylactic bilateral mastectomy with immediate implants.
Whatever your decision, whether to continue monitoring or have the surgery, I hope you find peace of mind.

Thank you for your response. It does help to know that there ARE women out there who have the mutation and who didn't develop cancer until they were older. I can look at this and say my risk of breast cancer is ONLY 30%, but then realize that that's two to three times higher than the "average" risk, and that number doesn't take into account family history. I am active on the FORCE resource group, and have attended some of their Zoom meetings. Thank you for the recommendation though! And thank you for your support. I hope you and your daughter are both doing well!

I had borderline ovarian cancer in my early 30's, had oopherectomy to left side then had my two children; then hysterectomy since I had the 2 children we wanted. Then OK until 2021 when dx with Triple negative BC and then found out I was BRCA2+; I just turned 70. My dad had early colon cancer in his 60's and died at 96 YO. No cancer on mom's side of family so I can only discern dad was the carrier. My son is BRCA2+; but my daughter is not. I've advised my siblings to be tested - we're all late 60's - mid 70's. Not sure if any of them have - only one sibling has kids and I hope she get tested to know whether she could have passed it on.

Since dx I've had chemo, bilateral and radiation and just started on Lynparza. My mom is 96 and I'd like to live to that ripe old age too.