Log in to post a reply
May 26, 2018 09:49AM
May 26, 2018 09:51AM
Thought I would add my PALB2 story into the mix...
I was DX stage 2B at age 28 in 2012. Only did a single MX and a reduction in the unaffected side. Chemo, rads, hormone blocking etc... BRCA tests came back negative so MO and surgeon never even gave me the option to consider a BMX.
Fast forward to 5.5 years out from early stage diagnosis... 2017 I found out the cancer was in my lungs. Crushing. :'(
This prompted further genetic tests. Initially they only found a BRCA signature but then when we investigated further a pathogenic PALB2 mutation was confirmed through a larger gene panel. It's been a real head-messer to go from always wondering WHY to now knowing exactly why I developed cancer so young.
Medical team and genetic counselors didn't think it was genetic because my paternal Grandmother had BC at 70 and never had a recurrence over 15 years. No other women in the family so it was never on the radar that this could be genetic, although I tried for further tests back in 2015 and was denied. But now my Dad is positive for the mutation after all.
I'm curious about finding others with the same deletions. Mine are complete deletions in exons 9 & 10. I have heard this is common in Eastern European countries. My Dads mother's family was from Czechoslovakia. All we know is that her Grandmother died young and her Dad's sister died young. So it's suspected to be from that line. Back in 2012 the genetic counselors wouldn't look at family history beyond my grandparents though. Frustrating.
Overall I'm relieved to know now why I ended up with this diagnosis. I'm pissed I'm stage IV. I'm also a little angry that it took over 6 years to get this PALB2+ confirmation. I never did a BMX. But if I had known back then I would have. Having said that, I was told that PALB2 tests were only being offered in the last two years. (I'm in Canada so we seem to be behind)
If I knew I was PALB2 before cancer and had the opportunity to take preventative measures I would have done it in a heart beat. I would do anything to not be stage IV in my early 30s.
DX 28 - stage 2B ; DX 34 - stage 4 (lung, mediastinal nodes) • PALB2+ A946-1038del (confirmed Apr '18) • RECQL variant (A503V)
1/3/2012, DCIS/IDC, Left, 2cm, Stage IIB, Grade 3, 1/12 nodes, ER+/PR+, HER2-
2/8/2012 Lymph node removal: Left; Mastectomy: Left; Reconstruction (left)
4/3/2012 AC + T (Taxol)
9/10/2012 Whole-breast: Breast, Lymph nodes
11/2/2012 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)
5/20/2014 Zoladex (goserelin)
9/1/2014 Femara (letrozole)
3/1/2016 Aromasin (exemestane)
7/10/2017, IDC, Left, Stage IV, metastasized to lungs/other, Grade 2, ER+/PR+, HER2- (FISH)
7/12/2017 Zoladex (goserelin)
9/14/2017 Femara (letrozole)
9/21/2017 External: Lymph nodes
10/15/2017 Ibrance (palbociclib)
11/13/2018 Faslodex (fulvestrant)
4/17/2020 Xeloda (capecitabine)