"Third gene" linked to breast cancer

can't open the link.

http://www.nytimes.com/2014/08/07/health/gene-indicator-breast-cancer-risk.html?ref=health

For those of you who have already had treatment, is the genetic testing of Palb, etc to inform familial risk or might it affect your own future treatment? I'm BRCA1/2 negative, but mom died of premenopausal BC. I haven't done any other genetic testing. My mom's two sisters have had no issues (both older than she, and have lived/are alive to their late 80s). I have no siblings, and have 2 sons. I'll ask my MO at next appt if he thinks more extensive genetic testing would be valuable.

The PALB2 gene has been known to be connected to BC for many years, although it's nice that the New York Times is bringing it back to the mainstream. There are some companies that do comprehensive genetic tests looking at multiple genes (other than just the BRCA gene). 

One of those tests is done by a California based company called Invitae. They look at the following genes for sequence changes and exonic deletions / duplications: 

ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, NBN, PALB2, PMS2, PTEN, RAD51C, SLX4, STK11, TP53. (I believe if you test positive for some of these genes [like the TP53 gene] than radiation therapy is frowned upon, since the radiation can cause new cancer.)

Anyway, the actual test by Invitae is called: "Women's Hereditary Cancers Panel". This test may or may not be covered by insurance, and I'd imagine is more often done on younger women who have had a childhood cancer and/or strong family history of cancer. Despite meeting our "out of pocket max", our insurance only paid a portion of the bill, since it was not considered part of our PPO "in network" insurance.

move along. nothing to see here.

See what the Breastcancer.org Research News team has to say about this discovery:

Abnormal PALB2 Gene Increases Breast Cancer Risk More Than Previously Thought

mods - excellent article and very understandable. Scary stuff.

lekker - very enlightening. - this gene stuff is BIG business.

Kayb - I think any of the genes tested on UW's Broca panel can be ordered individually, but I have no idea how/if that changes the cost of testing.  Your onc might not know much about genetic testing (most don't beyond BRCA) so you could consider asking for a referral to a licensed genetic counselor (like jessica suggested) and he/she can really get into your history to see what testing might be applicable.  I understand why insurance companies limit paying for testing, but I don't understand why it can be hard to get them to pay for a referral in certain cases - your bilateral BC plus your mother's history should've earned you an automatic visit with a LGC (in my humble and non-professional opinion).

I think BART is now included in Myriad's panel test, but it was an add-on with their "Comprehensive" BRCAnalysis test - how comprehensive could it be when they were missing 8-12% of positives (according to a study by UW's Mary Claire King) by not including BART?  Again, a LGC should be able to explain to you what, if any, additional testing would be recommended, then you try to get insurance to pay for it.

Kayb - yes, I firmly believe that anyone with a family or personal history of cancer should consider a conversation with a licensed genetic counselor.  Be prepared with as much family information as you have (including medical records if possible) for the LGC so he/she can figure out whether or not there's enough suspicion to offer testing.  You never have to go through with any tests that you don't want and keep in mind that just because a test is offered, it doesn't mean your insurance will cover it so check first.  The LGC will be interested in more than just cancer - heart disease, diabetes, smoking/drinking habits, skin markings, birth defects, age at menarche and menopause, dates for births and deaths, mental health issues, etc.  The more, the better!  Broca is up to almost 50 genes now.  I don't know if that's a good thing or not.  I don't know if all of the tested genes are "actionable" - meaning would you know what to do if you were found to have a mutation?  Something to ask your genetic counselor!  

Kayb - there are other, known "high penetrance" mutations that would impact screening and potentially treatment decisions.  See http://www.cancer.gov/cancertopics/pdq/genetics/b... Your onc is not correct - if you were to learn that you have a mutation in TP53, CDH1, PTEN or any of the Lynch genes, you would at the very least be offered more frequent breast screening as well as earlier colonoscopies and closer gyn screening possibly.  Other prophylactic surgeries might be offered (gastrectomy for CDH1, colectomy and hysterectomy for Lynch, etc.) and radiation in any form is to be avoided with TP53.  Yes, BRCA 1&2 (and recently PALB2) are the most famous, but they are not the only known actionable mutations.

It's the moderate and low penetrance mutations that currently raise more questions than they answer. 

As far as family history goes, it might not be an issue.  I had very limited family history of cancer, but because I had two separate primary cancers diagnosed unusually young, I qualified for testing.  You had synchronous bilateral breast cancer which is unusual enough to cover at least a referral to a counselor by many insurance companies.  Good luck with your decision making process - none of this is easy.

Sorry about that kayb.  I get pretty fired up when I hear that someone is being denied access to genetic counseling or relevant testing. In this case, you were clear that you were working through the issues with your dr but I jumped to my own assumptions.  I apologize for my mistake.