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Topic: palb2 & brip1 ?

Forum: Positive Genetic Test Results —

BRCA 1 & 2, ATM, BARD1, CDH1, CHEK2, MRE11A, NBN, p53, PALB2, PTEN, RAD50, RECQL, RINT1, and possibly MSH6 and PMS2 genes

Posted on: Apr 10, 2016 12:14PM

cjpecori wrote:

dx 2/16 w/ 2.9cm idc triple positive left breast and a phylloides tumor (which is benign at this time)

unsure of nodes b/c neoadjevunct chemo but mri looked ok

completed 2nd round of neoadjevunct tchp last friday

2nd tx was worse, my onc told me about the cummulative effect

? regarding my genetics that came back + for PALB2 & BRIP1 limited info on these but onc says possible BMX

also i found some info on high risk of ovarian ca with BRIP1 just what i need

any one have better data, info, history, suggestions?

Dx 2/25/2016, IDC, Left, 2cm, Stage IIA, Grade 2, ER+/PR+, HER2+ (FISH) Chemotherapy 3/11/2016 Carboplatin (Paraplatin), Taxotere (docetaxel) Targeted Therapy 3/11/2016 Herceptin (trastuzumab) Targeted Therapy 3/11/2016 Perjeta (pertuzumab)
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Apr 10, 2016 12:42PM Hopeful82014 wrote:

Hi - I have some links to info that I'll send later in the day.

In the meantime, you might want to go to FORCE.org (Facing Our Risk Of Cancer Empowered). They have a fair amount of info on mutations other than BRCA 1/2.
Dx IDC
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Apr 10, 2016 01:40PM - edited Apr 10, 2016 01:43PM by exercise_guru

Hi I am Palb2 positive and I did end up having my ovaries out as well as a BMX. I have "met" other women online who have chosen to go this route as well. Its a mixed recommendation as it is a new gene they know little about. I consulted a few Gyn MO's before making the decision. Unfortunately ovarian cancer screening is primitive and misses most cancer. Also my Gyn MO told me that most early stage ovarian cancer is found by accident when a woman has a hysterectomy for other reasons. The cure rate on that is high but this cancer is rarely found at an early stage.

The BMX was due to double breast cancer (early stage) I have er positive in one side and her positive in the other side.

TCHP is the gold standard for your treatment and perjeta is considered very effective. I had adjunctive surgery so was ineligible for perjeta in hindsight I would have had TCHP and then surgery. I had TCH chemo. I did have nuelasta and made it through fine. My hair is growing back now so stay strong you can do this.

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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Apr 10, 2016 05:01PM pboi wrote:

I initially had a right mastectomy after diagnosis. Genetic testing revealed that I was BRIP+. There is so little info out there about what this means, but there possibly could be a moderate risk of breast and ovarian cancer. When active treatment was completed I chose to have a left prophylactic mastectomy and oophorectomy. I'm hopeful this helps decrease my chances of cancer going to my breasts or ovaries.

PB

Chemotherapy 1/22/2014 AC + T (Taxol) Dx 12/10/2014, IDC, Right, 1cm, Stage IIA, Grade 3, 2/9 nodes, ER+/PR+, HER2- Surgery 12/26/2014 Lymph node removal: Right; Mastectomy: Right Radiation Therapy 7/6/2015 Hormonal Therapy 8/5/2015 Arimidex (anastrozole) Surgery 11/11/2015 Prophylactic mastectomy: Left; Prophylactic ovary removal Dx 8/6/2018, Stage IV, metastasized to liver, ER+/PR-, HER2- Chemotherapy 9/5/2018 Gemzar (gemcitabine), Taxol (paclitaxel) Chemotherapy 5/7/2019 Taxol (paclitaxel)
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Apr 10, 2016 05:19PM mustlovepoodles wrote:

II turned up positive for PALB2 and Chek2, both of which are implicated in breast cancer and colon cancer. I have a terrible family history of cancer on both sides. My genetics counselor estimated my risk of breast cancer at 45% or more.

. In February I made the decision to have a bilateral mastectomy. I will also end up having a full hysterectomy because of History of uterine cancer in my family.

This has not been an easy decision. All surgeries come with risks, and I have not had an easy time with the bilateral mastectomy. But hopefully this will lower my risk of recurrence substantially.

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 8/20/2015 Lumpectomy Surgery 9/2/2015 Lumpectomy: Right Chemotherapy 10/19/2015 Cytoxan (cyclophosphamide), Taxotere (docetaxel) Surgery 2/4/2016 Prophylactic mastectomy: Left, Right Surgery 10/18/2016 Hormonal Therapy Femara (letrozole) Surgery
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Apr 30, 2016 07:38AM Bird-of-light wrote:

Exercise guru- did you have the ovaries taken out the same time as the BMX

Dx 4/13/2016, IDC, Left, <1cm, Grade 2, 0/3 nodes, ER+/PR+, HER2+ (IHC) Surgery 6/7/2016 Mastectomy: Left; Prophylactic mastectomy: Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Chemotherapy 7/13/2016 Taxol (paclitaxel) Targeted Therapy 7/13/2016 Herceptin (trastuzumab)
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Jan 23, 2017 02:08PM DaisyFoord wrote:

DO you have any further information on BRIP1?

My mum had it confirmed today that she is a carrier, she had the test as she had ovarian cancer and they have confirmed that it was this gene mutation that caused it.


Thanks

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Jan 23, 2017 06:05PM Hopeful82014 wrote:

Here's a link to an article that you might find helpful (and this site/organization can be informative, too).

http://www.facingourrisk.org/understanding-brca-and-hboc/information/risk-management/introduction/basics/guidelines_for_other_mutations.php

Dx IDC
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Jan 23, 2017 07:36PM Moderators wrote:

Hi Daisy-

We have some info on genetic mutations, including BRIP1, on our main site: http://www.breastcancer.org/risk/factors/genetics. There's also info on what your next steps may be, should you be found to be a carrier. We suggest writing down any questions you have, and discussing them with the genetic counselor when you meet.

Please keep us posted on when/if you undergo the testing!

The Mods

To send a Private Message to the Mods: community.breastcancer.org/mem...
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Oct 19, 2019 08:29PM dohalloran wrote:

Hi PB. how are you doing since? I was diag. pos for BRIP1 2/2019. No cancer. I'm 50 healthy. Aunt had oc. Sister age 34, then again at 38 with bc. My mom age 72 just diag. bc 2 weeks ago! After research, many doctor opinions I am getting a double mastectomy and hysterectomy/ovarian prophylactic this upcoming week. 1 surgery for all plus bladder lift. I know it is a lot but I want it all done and move forward with my life. Im not in menopause so that is where I'm nervous on how I'm going to be and what options I can use if need be. Hope you are well !

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Oct 19, 2019 10:47PM pboi wrote:

Hi Dohalloran,

I wish had better news to report. After initial bc treatment, prophylactic BMX and oophorectomy, I opted to be more aggresive in treatment in taking a AI over Tamoxifen, which was initially recommeded to me by my MO. After 3 years of AI therapy, I was diagnosed with extensive liver mets. I was originally told I had VUS BRIP1, but who knows how much or if any of it factored into my ultimate metastatic bc diagnosis.

It sounds like you are doing all you can to keep cancer at bay. Good luck to you on your surgery this week.

PB

Chemotherapy 1/22/2014 AC + T (Taxol) Dx 12/10/2014, IDC, Right, 1cm, Stage IIA, Grade 3, 2/9 nodes, ER+/PR+, HER2- Surgery 12/26/2014 Lymph node removal: Right; Mastectomy: Right Radiation Therapy 7/6/2015 Hormonal Therapy 8/5/2015 Arimidex (anastrozole) Surgery 11/11/2015 Prophylactic mastectomy: Left; Prophylactic ovary removal Dx 8/6/2018, Stage IV, metastasized to liver, ER+/PR-, HER2- Chemotherapy 9/5/2018 Gemzar (gemcitabine), Taxol (paclitaxel) Chemotherapy 5/7/2019 Taxol (paclitaxel)

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