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Topic: prophylactic mastectomy following positive palb2 mutation

Forum: Positive Genetic Test Results —

BRCA 1 & 2, ATM, CDH1, CHEK2, MRE11A, MSH6, NBN, p53, PALB2, PMS2, PTEN, RAD50, RECQL, and RINT1 genes

Posted on: Feb 22, 2017 10:43PM - edited Feb 22, 2017 10:44PM by nopal2palb2

nopal2palb2 wrote:

has anyone undergone a prophylactic mastectomy after testing positive for a palb2 mutation (with no bc diagnosis)??? i undergo the surgery & diep flap reconstruction on 3/23/17. thanks:

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Feb 22, 2017 11:03PM - edited Feb 22, 2017 11:04PM by mustlovepoodles

Yes.  I actually went about it backwards. I was diagnosed with BC in Jul 2015.  I have strong family history of breast (including male BC), colon, and other cancers, so my genetics counselor suggested to a quick 5-gene panel which included the BRCA genes, and then doing a 32-gene panel that covers the more obscure genes, many of which cause breast, colon, and other cancers found in my family.  When the 5-gene panel came back negative, we proceeded with a lumpectomy. About 2 weeks later the larger panel revealed the PALB2 and Chek2 mutations, both of which cause BC. Unfortunately, by that time my pathology had changed from ER+PR+ to ER+PR-, a more aggressve cancer. As a result my treatment plan went from minor surgery (LX) plus radiation to LX, plus CHEMO and no radiation.

About 5 weeks after my final chemo, I had prophylactic bilateral mastectomy.  As my BS said, the LX took care of the tumor, so the BMX wasn't to treat cancer.  I think if I had waited just a little longer after chemo that I would have had an easier go of it. As it was I had a lot of complications and it took 16 weeks to heal. Perhaps the chemo impeded healing.   But the BMX itself wasn't difficult or terribly painful. I didn't have reconstruction, so I can't comment on that.  The drains were a pain in the butt and I felt a LOT better once they were out.

My only regret is that I didn't know about these gene mutations 4 years ago. I could have started an AI. I could have had preventative surgeries and maybe avoided BC and chemo.  My 23yo DD decided to get tested and she is also PALB2 and Chek2 positive. She was devastated, as was I. But like I told her, at least she will have the advantage of close breast surveillance, with the option of starting hormone suppression early and preventative surgeries around age 35.  I hope it's enough. There are 3 women in my family who had pre-menopausal BC, including one aunt who was only 24.

One bright spot for me is that knowing that I have these gene mutations, my doctors can be vigilant with things like colonoscopies, thyroid and pancreas evaluations, skin cancer surveillance, and others. 

Oncotype 23. Positive for PALB2 & Chek2 gene mutations. My breasts are trying to kill me! Dx 7/20/2015, DCIS/IDC, Right, 1cm, Stage IA, Grade 3, 0/2 nodes, ER+/PR-, HER2- Surgery 8/19/2015 Lumpectomy Surgery 9/2/2015 Lumpectomy: Right Chemotherapy 10/19/2015 Cytoxan (cyclophosphamide), Taxotere (docetaxel) Surgery 2/3/2016 Prophylactic mastectomy: Left, Right Surgery 10/18/2016 Hormonal Therapy Femara (letrozole) Surgery
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Feb 23, 2017 03:50PM Moderators wrote:

Also, you may want to take a look at our section and video series on prophylactic mastectomies.

Prophylactic mastectomy

To send a Private Message to the Mods: community.breastcancer.org/mem...
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Feb 24, 2017 12:55PM Hopeful82014 wrote:

I would have at least considered the option, although I probably would have been more likely to go on an AI.

Like Mustlovepoodles, I too wish I'd known about my mutations a few years earlier. However, since PALB2 mutations' association with breast cancer was under study but wasn't widely known until a month before I was diagnosed, I have to accept the current reality. Good luck with your surgery.

Dx IDC
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Apr 18, 2017 11:31AM botzey wrote:

Hi Nopal2palb2,

I hope your surgery went well. I just had my BMX with DIEP on 03/03/17. No breast cancer diagnosis. I have a strong family history of breast cancer. I wanted to reduce my chance of getting cancer as much as possible. I watched my mother go through treatment for stage III and it was rough on her. She is celebrating 21 years cancer free this year.

I also had a hysterectomy with bilateral salpingo-oopherectomy in January.



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Jun 6, 2017 07:11AM Debbs74 wrote:

l am also palb-2 positive, Had a mastectomy on left breast, had breast cancer node negative, 2 tumors one 2.7 cm triple negative and one 1cm her2.Went to fox chase in Philadelphia to get recommendation to treatment, can the chemo activate more cancer?

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Aug 6, 2017 04:51AM LMStheLMS wrote:

I am highly considering it, and I don't have breast cancer either (yet). My sister was 39 when diagnosed a couple months ago, and considering family history of cancers (4 other breast cancers, 2 colon, 2 prostate, leukemia, and lung) my doctor puts me at higher than 58% risk.


I hope your surgery and recovery went well. I would love to hear your afterthoughts, as there aren't many of us (palb2+, no cancer) from what I can find.


Thanks.

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Aug 31, 2017 05:20PM portroyal wrote:

I'm in a nearly identical situation to LMStheLMS. PALB2+ with no cancer myself; a family history of cancer, including my younger sister who was 38 at the time of her diagnosis. I'm getting my head around the prophylactic surgery, but very unsure about reconstruction -- if, and if so, what type.


All my best.

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Jun 4, 2018 11:54PM nopal2palb2 wrote:

i’m now 14 months postop & have no regrets. i lost my mom to premenopausal bc when i was in college & don’t want to leave my kids without a mom. just got my tit tats & a couple scar tweaks & i’m so relieved that i’ll never have to worry again. write back if you want more specific details

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Jun 5, 2018 08:39PM Deb3kids wrote:

Does anyone have any words of advice? I had breast cancer five years ago when I was 39 and I have put the nightmare behind me. Last month I had my yearly visit to the gynecologist. My doctor recommended that I do a genetic DNA test because new genes have been discovered that are linked to breast cancer. (My mom and aunt had breast cancer about 10 years ago. We were all BRCA 1 & 2 negative.) So...I just got the results. I am positive for the PALB2 Gene mutation. I don’t know where to go from here. I am worried that my 19 year old daughter will have the mutation as well. Seems like there has not been a whole lot of research done on this topic. Should my mom, aunt and daughter get tested? Do I need to find a genetic counselor to help guide me? I called my oncologist office today and left a message, but they did not return my call. I assume they have the test results as my doctor sent them to both my oncologist and radiologist. I feel alone and scared. I thought I would not have to worry about a recurrence as I am 5 years out. Now I am not so sure....
Surgery 2/8/2013 Lumpectomy: Left Dx 2/14/2013, IDC, Left, 3cm, Stage IIB, Grade 3, 2/12 nodes, ER+/PR+, HER2- Surgery 2/20/2013 Lumpectomy: Left; Lymph node removal: Left, Sentinel, Underarm/Axillary Chemotherapy 4/2/2013 AC + T (Taxol) Hormonal Therapy Radiation Therapy Breast
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Jun 5, 2018 08:51PM Denise-G wrote:

Deb3kids - so sorry about your discovery, but good that you know. My suggestion would be to go see a genetic counselor. My sister and I both have the Chek 2 mutation, and they were invaluable to us. We went to a major university hospital where we both had treatment for breast cancer.

My best wishes, Denise

www.denise4health.info my BC Blog with over 200 informative posts - stop by and say hello! Myself, my mom, and sister were all diagnosed with BC within 3 years. What a ride! Dx 10/10/2011, IDC, Left, 6cm+, Stage IIIA, Grade 2, 9/14 nodes, ER+/PR+, HER2+ (FISH) Surgery 11/23/2011 Lymph node removal: Left, Underarm/Axillary; Mastectomy: Left Chemotherapy 12/27/2011 AC + T (Taxol) Targeted Therapy 2/28/2012 Herceptin (trastuzumab) Hormonal Therapy 10/11/2012 Arimidex (anastrozole)
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Jun 5, 2018 09:25PM Deb3kids wrote:

Thanks Denise! I will start looking for a genetic counselor tomorrow. I am hoping to hear back from my oncologist. Perhaps he will be able to recommend one. Is this something that my insurance will cover, I wonder?
Surgery 2/8/2013 Lumpectomy: Left Dx 2/14/2013, IDC, Left, 3cm, Stage IIB, Grade 3, 2/12 nodes, ER+/PR+, HER2- Surgery 2/20/2013 Lumpectomy: Left; Lymph node removal: Left, Sentinel, Underarm/Axillary Chemotherapy 4/2/2013 AC + T (Taxol) Hormonal Therapy Radiation Therapy Breast
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Jun 6, 2018 03:31PM mustlovepoodles wrote:

I would share your results with your family, then leave it up to them to pursue genetic testing or not. My adult children wanted testing after we found out I had both PALB2 & Chek2 mutations. My 31yr old son was negative for both, but my 25yr old daughter is positive for both. My youngest son, 23, is severely mentally handicapped. We elected not to have him tested, partly due to the expense, but mostly because he cannot understand, nor participate in his own care and it wouldn't change our treatment decisions for him.

Oncotype 23. Positive for PALB2 & Chek2 gene mutations. My breasts are trying to kill me! Dx 7/20/2015, DCIS/IDC, Right, 1cm, Stage IA, Grade 3, 0/2 nodes, ER+/PR-, HER2- Surgery 8/19/2015 Lumpectomy Surgery 9/2/2015 Lumpectomy: Right Chemotherapy 10/19/2015 Cytoxan (cyclophosphamide), Taxotere (docetaxel) Surgery 2/3/2016 Prophylactic mastectomy: Left, Right Surgery 10/18/2016 Hormonal Therapy Femara (letrozole) Surgery
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Jun 6, 2018 10:48PM Deb3kids wrote:

Thanks so much for the reply. You and your family have sure been through a lot. May I ask what your daughter is thinking/planning to help prevent breast cancer? Did your doctor feel as though the palb2 mutation was significant in planning your treatment. I have been researching and can’t find a whole lot of conclusive information. Thanks so much for your insight

Surgery 2/8/2013 Lumpectomy: Left Dx 2/14/2013, IDC, Left, 3cm, Stage IIB, Grade 3, 2/12 nodes, ER+/PR+, HER2- Surgery 2/20/2013 Lumpectomy: Left; Lymph node removal: Left, Sentinel, Underarm/Axillary Chemotherapy 4/2/2013 AC + T (Taxol) Hormonal Therapy Radiation Therapy Breast
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Jun 7, 2018 07:55PM Denise-G wrote:

Deb3kids - insurance covered all of our genetic testing and should yours as well !!!

Please post back and let us know what you find out along the way!

www.denise4health.info my BC Blog with over 200 informative posts - stop by and say hello! Myself, my mom, and sister were all diagnosed with BC within 3 years. What a ride! Dx 10/10/2011, IDC, Left, 6cm+, Stage IIIA, Grade 2, 9/14 nodes, ER+/PR+, HER2+ (FISH) Surgery 11/23/2011 Lymph node removal: Left, Underarm/Axillary; Mastectomy: Left Chemotherapy 12/27/2011 AC + T (Taxol) Targeted Therapy 2/28/2012 Herceptin (trastuzumab) Hormonal Therapy 10/11/2012 Arimidex (anastrozole)
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Jun 7, 2018 08:07PM - edited Jun 7, 2018 08:09PM by exercise_guru

in my situation I was tested for all of the main breast cancer genes as well as all of the ovarian cancer genes. Then because of my mom's family history she was also tested for those genes and came back negative for all of them. I think going forward my four sisters could just elect testing for the palb2 Gene. I think that testing just by itself is only a few hundred dollars and it's likely their insurance would pay for that. I believe that if there is a strong family history and the palb2 gene Insurance may be required to pay for prophylactic surgery but I'm not sure. The women I am in contact with who have had this done were able to get their insurance to pay for it.

The Mo Obgyn who performed my surgery mentioned he had performed prophylactic oophorectomy surgery on a few women who had not had breast cancer but had a strong family history of ovarian cancer or the palb2 gene.

I didn't have that conversation with my breast surgeon because I had a double mastectomy before I found out that I had tested positive for the palb2 gene.

Age 42 05/15/2015 PALB2 mutation, DBL Breast Cancer Type 1A Grade 3 ER+PR+(right 1.3cm,.5cm) HERr+(left1.6 cm), 06/26/2015 BMX with TE 8/27/15 Chemotherapy TCH 12/30/2015 TAH/BSO/Reconstruction 1/29/16 Arimidex 3/1/16 Femara 5/6/16 Tamoxifen
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Jun 8, 2018 02:27PM Deb3kids wrote:

Thanks so much Denise and Cynthea! I met with my oncologist today. She told me there is not a whole lot of research on the PALB2 Gene. I knew this already from trying to learn more about it myself. My risk of a new breast cancer is 58% due to family history and the PALB2 Gene. Being on tamoxifen for another 5 years should help bring down the percentage a little. She recommends being screened every 6 months with a mammo or mri. Also she would like for me to get a yearly ultrasound on my ovaries and pancreas. We talked a little about a mastectomy...but she said that is a personal decision and she didn’t want to sway me in any direction. It would certainly lower my odds...but it is such a difficult surgery. I’m in the process of setting up an appointment with a genetic counselor. My oncologist believes that my 3 children can get screened for palb2 and insurance will cover it. So that’s good news. I have an appointment next week with my radiologist and I am due for my yearly breast mri. I guess that I will learn more over the next few weeks. I appreciate your interest and advice in this matter, ladies. It is helpful to have connections with people who are in the same boat;) My husband thought we were done talking about breast cancer since I am five years out. He’s no help!
Surgery 2/8/2013 Lumpectomy: Left Dx 2/14/2013, IDC, Left, 3cm, Stage IIB, Grade 3, 2/12 nodes, ER+/PR+, HER2- Surgery 2/20/2013 Lumpectomy: Left; Lymph node removal: Left, Sentinel, Underarm/Axillary Chemotherapy 4/2/2013 AC + T (Taxol) Hormonal Therapy Radiation Therapy Breast
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Jun 8, 2018 06:48PM exercise_guru wrote:

My husband was done talking about it a long time ago as well. Its good you found us and got some support. Personally I think a prophylactic Mastectomy without Breast Cancer would be far easier to recover from. You could do a DIEP or whatever you want. With me they rushed me through and I barely got the drains out before I started Chemo. Also I couldn't travel to get it done or be extremely picky about who did the surgery because of the diagnosis. I am sure I would have recovered much easier and had a better experience without staring at a diagnosis. 58% is a heck high number. I will be on Tamoxifen for 10 years or some combination of that and Aromotase.

Age 42 05/15/2015 PALB2 mutation, DBL Breast Cancer Type 1A Grade 3 ER+PR+(right 1.3cm,.5cm) HERr+(left1.6 cm), 06/26/2015 BMX with TE 8/27/15 Chemotherapy TCH 12/30/2015 TAH/BSO/Reconstruction 1/29/16 Arimidex 3/1/16 Femara 5/6/16 Tamoxifen
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Jun 10, 2018 10:24PM Deb3kids wrote:

I agree...58% chance of a new breast is very high to mess around with. The problem is...I am a kindergarten teacher and it is a very physical job. So, I would have to wait until next summer when I could have some time to heal before going back to work. Is 2 1/2 months of summer enough time to recover from a mastectomy? I can’t wait to meet with the genetic counselor. I still need more answers and guidance. The lack of research and guidelines is just so frustrating. As is my husband!
Surgery 2/8/2013 Lumpectomy: Left Dx 2/14/2013, IDC, Left, 3cm, Stage IIB, Grade 3, 2/12 nodes, ER+/PR+, HER2- Surgery 2/20/2013 Lumpectomy: Left; Lymph node removal: Left, Sentinel, Underarm/Axillary Chemotherapy 4/2/2013 AC + T (Taxol) Hormonal Therapy Radiation Therapy Breast
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Jun 11, 2018 02:35AM exercise_guru wrote:

Most likely that would be enough time and if need be you could take personal time for the last two weeks of school (much better than the first two weeks from a classroom management perspective) to give you a bit of a cushion. Recovery is really based more on the reconstruction you choose and you could get a lot of feedback here to know what to do in that regard. Also you could do the mastectomy ow and then just recover and do reconstruction later. I suspect that is far easier to recover but very hard on your body image

Age 42 05/15/2015 PALB2 mutation, DBL Breast Cancer Type 1A Grade 3 ER+PR+(right 1.3cm,.5cm) HERr+(left1.6 cm), 06/26/2015 BMX with TE 8/27/15 Chemotherapy TCH 12/30/2015 TAH/BSO/Reconstruction 1/29/16 Arimidex 3/1/16 Femara 5/6/16 Tamoxifen

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