BRCA2 gene

Dr. Sartor had Dan (my husband) do some genetic testing when we were there earlier this month. Test showed a mutatation of the BRCA2 gene. It seems this gene is one of the genes that helps to keep breast cancer (in women) and prostate cancer (in men) away. If it has mutated, there is a much higher chance of getting one of the above cancers. Well, Dan already has advanced PCa .... neither parents have had any cancer to our knowledge or grandparents. They are finding that sometimes that gene mutates "out of the blue" ... not sure why. Our son is getting tested to make sure he hasn't inherited the mutated gene. Anyway ... thought y'all might be interested in this. Dan's back on HT and Casodex ... hopefully his next blood test (monthly) shows an improvement of his PSA.

Which specific BRCA2 mutation does he have, 6174delT?

Did Dr Sartor put him on a PARP inhibitor? Put "John Keats" in the search bar. He had an almost miraculous response to one. There are about a half dozen in clinical trials that he might be able to probably qualify for (some require previous docetaxel, some exclude on that). They are testing niraparib right there at Tulane.

When it comes to expertise with tough advanced cases Dr Sartor is very well regarded. It looks like the intermittent ADT is keeping things under control. Keep up the great results.

DebbieMH,

That complex-looking code is a code number for a specific DNA Deletion on the BRCA2 gene.
It has been studied mostly in groups of women who have breast cancers or ovarian cancers, in various countries, and using many different DNA diagnostics labs, over the years.

If Dan has it, he may (?) have inherited it from the time of birth, and been more susceptible to certain kinds of cancers, due to having a BRCA2 gene that was unable to do it's DNA repairing job at 100% effectiveness. He may or may not have already done some gathering of family history for other relatives who may have had different types of cancers, in conjunction with any Genetic Counseling he might have had. Such things are also good to know, to advise any of his biological offspring. Keep talking about that with the doctors or genetics counselors, until you are & Dan are satisfied with what you hear.

Here is one of those highly technical sources that summarizes all kinds of information about that particular BRCA2 genetic defect.

https://www.ncbi.nlm.nih.gov/clinvar/variation/38082/#clinical-assertions

https://www.ncbi.nlm.nih.gov/clinvar/variation/38082/#summary-evidence


If you noodle around on the above, and click on some of the other links, you can get some blurbs like this:

"Germline
This pathogenic variant is denoted BRCA2 c.7069_7070delCT at the cDNA level and p.Leu2357ValfsX2 (L2357VfsX2) at the protein level. The normal sequence with the bases that are deleted in braces is ATTT{CT}GTCT. The deletion causes a frameshift, changing a Leucine to a Valine at codon 2357, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.7069_7070delCT, previously reported as 7297delCT using alternate nomenclature, has been published in association with early-onset breast cancer and ovarian cancer (Garvin 1997, Spearman 2008, Zhang 2011, Cunningham 2014). We therefore consider this variant to be pathogenic."

Not a lot pops out in regards to Prostate Cancer. You are still going to have to ask you doctors about ALL your treatment options now that BRCA2 may be in play.

Charles

Caught off guard also when I found out I am BRCA1 Carrier. Too many family members with C...and I'm under watch for a few..............only to learn, with all my ongoing urinary symptoms, hematuria, back pain etc.
that there is left prostate nodule with a PIRADS 4 that needs to be biopsied. It's rather small, so although I have months to investigate, I'm trying to learn as much as I can in the event I need to act. I like to think I
have some control or options...but we know that life throws the unexpected. For sure, the information and internet is overwhelming so be careful which sources you use. Great information on these postings, even to point you in a certain direction. Education is power. God bless.