Prostate primary brca2 gene mutation found need help please

[Breese1010]

My husband was diagnosed with mix of Neuroendocrine and adenocarcinoma in his liver in August 2016 . He had always been very healthy worked out all his life and had a couple days of pain on right side and had ct scan and liver tumors found . Primary was prostate but oncologist really only focused on liver . Spa had never been abnormal Gleason also normal and prostate showed mix as well but was told high grade aggressive Neuroendocrine started etopisode and carboplatin six rounds and had good shrinkage in liver prostate and lymph node . Dr sent prostate biopsy to foundation one with no recommendations and I thought he sent liver off to caris . Found out later he didnt and after 10 months from diagnosis tumors were growing in liver so he tried keytruda for four rounds and it seemed to calcify the prostate but he now had bone Mets to Femur pelvis and vertebra and also liver tumors were growing so stopped keytruda and went on irinotecan and carbo. Got neutropenia in hospital for a week went to MSK for second opinion said get new liver biopsy and maybe try captem. Had to wait four weeks to get liver biopsy due to low platelets and his belly started swelling with ascites . He went downhill very quickly from there and he passed dec 7 2017 16 months after diagnosis. I am struggling with his passing after 39 years with the best husband and father for our family. I got the liver biopsy report form caris the last week of his life and it was too late to do anything at that point . I struggle with if we did the best fro his treatment . Really oncologist only centered on the liver and said that was our battle and he had inumerablw tumors in his liver . His biopsy did say the brca2 mutation presumed pathogenic . This is a major concern for me because we have a 32 year old son and a 30 year old daughter . Both seem healthy except my son has had several miles removed which one was melanoma and they took a goood chunk out of his calf and he is monitored every four months . He is blue eyed and does tan. This brca2 mutation I was told from oncologist that could be mutated from the cancer or gene inherited which concerns me for my kids. What do we need to do . Neither of them have children yet son is married and daughter is getting married . I am so scared and do not want to lose anymore family members . Caris report did say to treat my husband with parp inhibitor which maybe would have saved him had our dr sent off the original liver biopsy and not waited until almost 14 months in before doing another biopsy which was then too late . Please someone help me I understand what to do and if we missed an opportunity to help my husband live longer than 16 months . Our oncologist acted like he was never going to make it past 6 mo this and he did and o it the last four months was he feeling bad and unable to work . He was a fighter and I am eaten up with did we do enough and should I have pursued surgery and not listened to him say no surgery once it has metasized to his liver and he never did radiation either and said o it for pain which my husbands didn’t have till last month of his life . My husband was 67 when he passed and we had so many plans for retiring together and now that is all gone . I need help to help my kids with this brca2 gene mutation . Thank you for your help

[snoraste]

I am very sorry for your loss. I cannot even imagine how hard it must be for caregivers and spouses. I would suggest that instead of looking into the past, and blame yourself for the things that you would have changed, or done differently, look into the future.

I have BRCA2 mutation as well, and testing my boys at some point is a must. I had a consult with a geneticist, and she recommended m30's would be appropriate for the test. You need to check with insurance companies though, to make sure it does not become a "pre-existing" condition for them. I hear that if you pay for the test in cash (I think they cost around $100 each), you can chose the result to be completely private - but double check please.

Given the outcome of the genetic test, you'll have a much clearer path to follow. But regardless, given the history of cancer in the family, both your children should be monitored more closely and regularly.

best wishes -

[Hidden]

I'm really sorry to hear about your loss. Our prayers and thoughts are with you now. It's hard for us to imagine what you are going through now, though many here have lost loved ones from cancer.

It's natural to want to go back and try to understand what went wrong or what could have been done differently, but please don't beat yourself up about it. I hesitate to answer your question because of this. Whatever conclusions you make can only be used to help someone else in the future, not to ruminate about the past.

You also have to keep everything in perspective. The truth is that he had a very aggressive cancer, metastasized to a major organ. That's a tough one to beat for anyone.

I'm not a doctor, but will offer my opinion based on what I know. I prefer to make general statements about the treatment of cancer because it's not really possible to go back through your husband's treatments and make specific recommendations.

In general, prostate cancers that neuroendocrine in nature tend to go the organs and soft tissue. These cells don't have andogren receptors that respond to Andogen Deprivation Therapies (ADT) so the platinum-based treatments are used because they are effective. Carboplatin is the preferred chemotherapy for that type of cancer. The other adenocarcinoma prostate cancer cells are the ones that general metastasize to the bones and are usually "hormone sensitive". Those usually respond to ADT such as Lupron, Zolodex, etc. so if you have both types of cells, I would want to be using both ADT and platinum-based chemotherapy.

I think it's good idea for everyone to have genetic testing done to check for mutations. This doesn't have to be done through a tissue biopsy, but can be done through a blood sample. Some mutations such as BRCA2 are "actionable" with targeted treatments like PARP inhibitors.

If your husbands' BRCA2 mutation was a germline mutation which I'm guessing it was, your children could be tested now for it. The BRCA2 mutation can also occur during treatment (somatic) so it's important to get tested druing treatament, especially after resistance develops.

That's my opinion and again, don't beat yourself up. You did the best you could.

[Breese1010 in reply to Hidden]

Thank you for your response . I do agree that second guessing treatment once you have experienced loss is normal but not really very helpful. I called caris and foundation one both noted the brca2 gene mutation . The prostate biopsy was before treatment and was noted as a variance but not thought to be effective for treatment . The liver biopsy was done after chemo treatment and keytruda and more chemo and it mentioned the brca2 as a mutation pathogenic and they recommended parp inhibitor. We got these results two days before my husband passed away so it was not helpful but in taking with them now there could tell me if my husband has had brca 2 from birth or not and if it would be inherited for my kids but suggested testing them for the gene. It worries me terribly and I can’t get it out of my mind . I’m so scared of this for my kids . Both healthy now as far as we know and are 30 and 32. No kids yet .

I think they take their dads reports to their pcp and see where they send them next .

[Hidden in reply to Breese1010]

It's easy for your kids to be tested for germline BRCA2 through a blood test. If they have it then you know your husband's was germline and not somatic. It might help them someday.

[YostConner]

Breese, we should all be so lucky as to have caregivers as special as you. I do, but too many men don’t.

I’m saddened to read of your husband’s death. My father died before reaching 70. I hope, like my mother, you will find happiness and fulfillment in your life even though that seems distant now.

Please don’t second guess yourself.

My heart is with you.

[Breese1010 in reply to YostConner]

Thank you for your words . My heart is broken for my husband . He was the absolute best husband and father and our family will forever miss him and I can not think of ever being ok without him by my side as he was for 39 years .

I think I am still in shock with this loss.

[dentaltec]

Please have both your children get tested for the BRCA mutation! Our daughter, 46, has breast cancer and is BRCA 1 positive, so will now most likely develop more cancer. Therefore, she will have a double mastectomy and her ovaries out. Two years ago, my husband was diagnosed with prostate cancer, and now has been tested and is also BRCA 1 positive. Both his brothers had prostate cancer at the same time (they are 9 & 12 years younger). His sister is BRCA 1 positive....so it is definitely genetic, and in our case, passed from the father to daughter. If a parent is positive, there is a 50%chance their child will be positive...

We are so sorry for the outcome of your husband’s cancer! The delay of treatment most likely contributed but....it’s too late to go down that road. He would want you to keep looking forward, and focus on the bright futures of your children, future grandchildren, etc. Every day is precious; try to live with a positive spirit!

[dentaltec]

One more thought...Color.com is a good resource for genetic testing. If you have family members who are BRCA positive, they will do the genetic test for only $50!

[Breese1010 in reply to dentaltec]

Thank you for the info . We will check into that for sure.

[j-o-h-n]

My ❤ goes out to you and your family. The Greeks have a saying "ζωή στους ζωντανούς'" . Which mean "Life to the living". Your husband must have been an exceptional man since God wanted him by his side at such an early age.

You mentioned your son's Melanoma, so here's something which I want to share with you.

Besides my Pca I also have stage IV lung cancer. Two years ago I had a Melanoma on my neck which they removed (stage IV). Well a year ago they discovered that I had a Melanoma on my lung (stage !V - a wild Melanoma). I am being treated for the lung cancer with Keytruda ($30.000 per treatment 15 so far) at MSKCC in New York City. CT scans revealed that the tumor was reduced in half and then half again, so apparently it's working. I go for a scan in two weeks to see what's happening. So please (i know he's doing so) have your son on top of his situation. BTW I saw my Pca oncologist last week and asked him if the Keytruda I'm taking for my Lung is affecting (in a good way) my Pca. He said no.

Good Luck and Good Health.

j-o-h-n Wednesday 01/17/2018 7:25 PM EST

p.s. I fight the fight with humor.