BARD1 mutation

I'm sorry about the bad news. I don't have much information but I did find this table at Myriad Labs that shows associated risks with specific genes https://www.myriadpro.com/myrisk/why-myriad-myris...

It appears that unlike the Brac genes, there is no associated risk of ovarian cancer with the BARD1. If I were you I would find the best genetic counselor/ MD I could find and arrange for a consultation.

if you haven't already, download the prof manual. It has even more info and shows bard as an elevated risk but not high risk which is interesting. Let us know how things go. I'm trying to keep up on these types of issues for DD's sake. 

besa - Amazing links. Thanks so much. 

Be sure to also check out www.facingourrisk.org for information on genetic cancers.  Sue, one of the moderators there on those forums, may be able to help you find info.

I'm also positive for the mutation. I would be interested in sharing notes if anyone is willing to chat

amyj, did they also test you for the BRCA genes? You may perhaps need to talk with another physician/genetic testing center on their recommendations.

We're thinking of you!

I second the ladies here - find a really good genetic counselor. They are not all the same, as I unfortunately found out. I also want to recommend the book Cancer in the Family by Dr. Theo Ross. She is an MD PhD oncologist that specializes in hereditary cancer families. The book is a great resource (and interesting story). Dr. Ross states that genetic testing is really an ongoing process since there is much still unknown (both with positive and negative results).

Hi wombet and others:

It is possible that not all pathogenic mutations in the same gene confer the same level of risk. Please be sure to distinguish between the following, which may not be the same:

(a) the average risk observed in a group of people having a variety of different genetic changes in BARD1;

(b) the average risk observed in a group of people having the exact same type of genetic change in BARD1;

(c) the observed incidence of specific cancers in the members of a single family all having the exact same type of genetic change in BARD1 AND possible additional as yet unidentified shared genetic or environmental risk factors.

Wombet may not have the same mutation or genetic background etcetera as others above, and her family's experience may not be predictive of the true level of risk that others may face.

For information only, NCCN Guidelines for Genetic/Familial High Risk Assessment: Breast and Ovarian (Version 2.2016)(registration is free) note very generally:

https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf

"Lower penetrance genes for which there is currently insufficient evidence to recommend breast MRI, risk-reducing mastectomy, or RRSO [risk-reducing salpingo-oophorectomy] include, but are not limited to: BARD1, FANCC, MRE11A, MUTYH, NF1, NBN, RAD50, SMARCA, and XRCC2. Risk management recommendations should take into account family history and other clinical factors . . . "

See also, Chart ADDIT-2 at pdf page 28.

In this case, consensus guidelines are only an initial starting point, and in a very rapidly developing field will not be totally current in all aspects. There may be recent studies available that could change recommendations. Moreover, in specific cases, it may be appropriate to depart from what consensus guidelines provide for the general case. Therefore, it is critical to seek current case-specific, expert professional advice from a Genetic Counselor or other genetics professional regarding your specific mutation, and what is and is not currently known about the risk(s) that particular mutation may confer, in light of your personal medical and family history.

BarredOwl

Hi wombet:

I was not questioning the accuracy of the information you provided and I assumed that you and your sisters had the same particular mutation (see (c)). I was merely noting that the nature of the mutation, as well as the context of mutations (reflected in family history) may modulate the magnitude of the risk conferred. Some women reading these threads may not appreciate that the observed incidence of 3 out of 3 in your family all with the same specific mutation may not be predictive of the risk (or eventual incidence) in other families, particularly if they have a different mutation.

While you may understand the difference between average risk and incidence (the latter may be affected by chance in very small groups) and may understand differences in penetrance, others may not. Unfortunately, many women referred for genetic testing do not receive genetic counseling services before and/or after testing. See for example:

http://oncology.jamanetwork.com/article.aspx?articleID=2445346

http://cancerres.aacrjournals.org/content/75/9_Supplement/P1-11-02

More than once, members here have received test results they did not understand, yet they were not referred for genetic counseling. Even those who receive genetic counseling services do not necessarily receive the same quality of care, and some may not fully understand or absorb all of the information (or limitations the information) and advice that they received.

In my own experience, a member of my family was recently offered BRCA1/BRCA2 testing by a medical professional, but was provided with no genetic counseling, and thus did not receive any information regarding the limitations of the proposed testing in her case. [edit: deleted personal experience]

BarredOwl

I think the average life-time risk associated with pathogenic mutations in a gene versus the incidence in one family may be a possible area of misunderstanding, but it is not too complex for people to understand once pointed out. Average risks are determined from larger groups, and may have some predictive value regarding risk for similarly situated individuals. The observed incidence (100%) in one family may not (for the reasons noted).

Btw, I did not say that pathogenic mutations in the gene do not carry increased risk (they do). I said that pathogenic mutations in the same gene may not all confer the same level of risk, so people should discuss their specific findings with a qualified professional.

BarredOwl

Hopeful.....keeping people intellectually honest? I wonder how owl is able to do this when there has not been enough research on the Bard-1, yet. So to think anyone on here has all the answers is losing sight of the fact that there is simply not enough research to answer these questions. But according to Ambry genetics this mutations does carry a 3-fold increase in risk. This is significant and can raise a women's overall lifetime risk to 30-36%.

I am also positive for one of the BARD1 gene mutation. I am currently recovering from a prophylactic oophorectomy/ hysterectomy. ... Two weeks ago. I sought out the experts in my area who advised me to treat this news as if I have BRCA1 or BRCA2 mutation. Since I was done having kids at 44, I choose to have the bottom part of my " front end realignment " first. Ovarian cancer has no symptoms. In the next two years I will continue with close observation /breast MRI every 6 months and mammogram every 6 months alternating. Then I will have double mastectomy.

I am almost 3 years out from triple negative breast cancer and last month my sister was also diagnosed with TN. I am 59, she is 46. My mother and my maternal grandmother also had breast cancer. Mom is alive at 84, GM died in her late 60s from it). Sister and I are both BRACA negative but my sister's genetic counseling report came in today and she is positive for BARD1. I will def get tested for it as well, but I am guessing that I also have it. And I have 4 other sisters who now need to deal with this (or not deal with it.) And a daughter and nieces.

Ironically my MO is transferring from The Cancer Institute in NJ to a new Sloan that is opening up in NJ so I cant reach her for another week or so, but I guess I will do the genetic counseling at Sloan.

At this point should I have my mother get tested?

I have no problem getting my ovaries out but didnt really plan on needing a bilateral MX.....

Meg