QuoteReplyTopic: BARD1 info? Posted: Mar 15 2018 at 11:53am
A good friend of mine is nearing the end of chemo for TNBC (keytruda trial with Taxol & Carb, then AC, and possible Keytruda - Keytruda specific side effects so she's def.getting it), and she's tested positive for the BARD1 mutation. She's asked me to assist her in understanding what the mutation means as she approaches decision time on surgeries - lumpectomy, single mastectomy, double mastectomy, possibly hysterectomy. I'm having no luck finding info on the BARD1 risk factors and recommendations regarding it. She has two daughters as well so... Any information would be greatly appreciated!
PS to Steve - remember my friend with colon cancer with liver mets? This is his wife. This poor family :(
IDC, 2.2 cm, Stage IIb,lumpectomy 1/30/09 ACx4,Tx4 36 rads 6/1/16 Local recurrence same breast, same spot 1.8cm Carb.4x every 3 wks, Taxol 12x once wk. Dbl Mast. PCR!! Reconstruction fail, NED!
Thank you so much Donna! I guess the bottom line is, this discovery is still so new that there aren't any studies published yet showing real numbers regarding risk factors :( we'll be meeting with a genetic counselor next month as part of the appointments to help make surgical choices. I'm thinking the best bet is to treat it like a BRCA diagnosis and do the risk reducing surgeries. Her grandmother died at a relatively young age from ovarian cancer. If anyone out there has been thru counseling about having this mutation I'd love to hear from you. The worst thing is, she's going to have to tell her early 20's daughter's, and urge them to be tested too. I'm hating cancer even more than normal this week
IDC, 2.2 cm, Stage IIb,lumpectomy 1/30/09 ACx4,Tx4 36 rads 6/1/16 Local recurrence same breast, same spot 1.8cm Carb.4x every 3 wks, Taxol 12x once wk. Dbl Mast. PCR!! Reconstruction fail, NED!
You're welcome. The field of genetic testing and discovery is moving at a fast pace. I was negative for BRCA, but later found out I tested positive for lynch syndrome. At the time five years ago, they said no relationship to breast cancer and that my breast cancer was what they call sporadic (not genetic). Now a couple of months ago a study comes out linking two of the genes to an increased risk of breast and ovarian cancers. Since I had a bilateral mastectomy with the original surgery, and then a hysterectomy when I found out about lynch syndrome, no further action needed. If I didn't, then this would mean to consider risk reducing surgeries. With more people being tested for genetic mutations and the field expanding, we are going to see more discoveries including unknown genes yet to be considered or discovered. I think this is true in families where you see several generations of breast or ovarian cancers but they test negative for BRCA. It could be another gene yet to be discovered that links these cases together.
Donna
DX IDC TNBC 6/09 age 49, Stage 1,Grade 3, 1.5cm,0/5Nodes,KI-67 48%,BRCA-,6/09bi-mx, recon, T/C X4(9/09) 11/10 Recur IM node, Gem,Carb,Iniparib 12/10,MRI NED 2/11,IMRT Radsx40,CT NED11/13,MRI NED3/15
Kelly, you are a wonderful friend to a family that sounds like it's really been through the ringer. All this while I know you're fighting your own battle. Please remember to take some time to take good care of yourself along the way.
The BARD1 is intriguing and you've set me off on a scavenger google hunt now. I thought this piece about a community in Iceland was interesting, that this may be a very old genetic piece of the puzzle.
I went to the website from the King Lab Study of all the genes tested for BROCA. This is a good source as they add new discoveries to the list.
BROCA is useful for the evaluation of patients with a suspected hereditary cancer predisposition. Depending on the causative gene involved, these cancers may co-occur with other cancer types (such as colorectal, endometrial, pancreatic, endocrine, or melanoma).
The link below includes all the genes tested and associated cancer risk:
Thanks for posting this information. I think I remember reading it when so many tested with Marie Claire King/ Washington ...
I am still keeping an eye out for something to explain my new primary.
Blair
Edited by cheeks - Mar 20 2018 at 7:31am
Lump found 11/08 DX: 2/09 @52 TNBC L. Mast. 3/26/09, SN-, BRCA-, 4.5 cm (post surgical)T2NOMO Chemo: 4/09-10/09 Taxol x 12, A/C x 4, No rad.No recon. NED 1/17. New Primary right breast TN, 2/2018.
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