Did my genetic counselor give me incorrect info?

elise24601

I am BRCA1 positive. I met with a genetic counselor twice and she explained what this meant for me - she was detailed, knowledgable, and spent over an two hours speaking with me. She was a BRCA1 carrier herself. But now I fear she didn't give me the truth.

She told me that being BRCA1 puts me at risk for a new primary cancer, but that it does NOT mean my current diagnosis is more aggressive or has a worse outcome (in terms of recurrence and overall prognosis) than a non BRCA1 breast cancer. I felt reassured when I heard this, but when talking to other women online and researching, it seems this isn't actually the case.

I saw this for instance: http://www.breastcancer.org/research-news/20130417

Thoughts?

KNardo88

Hi Elise,

We have very similar stats. I am also a BRCA1 carrier. I was also told that the gene mutation does not mean the prognosis for me is worse than a sporadic case. In fact, I was actually told that the BRCA1 mutation made the cancer cells more sensitive to chemotherapy, making it even more beneficial. The fact that you and I are BRCA1 but not TN is rare, but also a positive. Regarding the article you linked--- BRCA1 would have poorer surivival stats due to the fact that it is related to higher risk percentages of developing Breast and/or Ovarian cancers to begin with than BRCA2, and is also strongly tied to incidence of TNBC, which carries an a statistically poorer prognosis than hormone receptor positive cancers.

BarredOwl

Hi elise24601:

Meeting abstracts are often preliminary in nature, and BC.org summaries may not include important caveats. To identify a possible subsequent publication with more information, data, and a more thorough analysis, I googled "Van 't Veer survival brca1 carriers" and found this full-length publication:

van den Broek (2015): http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0120189

Data supplements are available under "Supporting Information" and can be downloaded:

http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0120189#sec027

van den Broek (2015) PDF version: http://journals.plos.org/plosone/article/asset?id=10.1371/journal.pone.0120189.PDF

I have not read the entire article in detail, but note that there appear to be numerous studies in this area. As explained in the Introduction:

"An impressive number of studies have already been conducted to address the association between BRCA1 and/or BRCA2 mutation carriership and breast cancer survival (Table 1 and Table 2). Study results were inconsistent, possibly due to differences in study design, study size, study populations and methodological rigor."

This meta-analysis reviewed a specific subset of published studies:

"Eligible publications were observational studies assessing the survival of breast cancer patients carrying a BRCA1/2 mutation compared to non-carriers or the general breast cancer population."

Using these criteria, "Sixty-six relevant studies were identified" for analysis (See Tables 1 and 2).

The overall conclusions taken from the Abstract were:

"Conclusions

In contrast to currently held beliefs of some oncologists, current evidence does not support worse breast cancer survival of BRCA1/2 mutation carriers in the adjuvant setting; differences if any are likely to be small. More well-designed studies are awaited."

See also the Discussion section, for example:

"Considering that certain prognostically important clinico-pathological features are different for BRCA1-associated tumours (S10 Supporting Information, part A) [2,3], a crucial question is to which extent BRCA1/2 mutation carriership and the specific tumour features associated with carriership can be considered to be independent when studying prognosis. The heterogeneity of the reported results did not allow a conclusion regarding the contribution of BRCA1/2 status and tumour features to a worse survival (Fig. 3 and Fig. 4; Table 4 and Table 5). However, individual and pooled adjusted HRs compared to unadjusted HRs often resulted in a shift to a relatively more favourable survival for both BRCA1 and BRCA2 mutation carriers compared to 'non-carriers' (Table 3 and Table 6). Based on these results we can conclude that clinico-pathological characteristics of the tumour might indeed play a confounding or mediating role in the association between BRCA1/2 mutation carriership and breast cancer survival, though more research should be performed to further elucidate this.

Primary breast cancer treatments may be different for BRCA1 and BRCA2 mutation carriers compared to non-carriers, mostly related to different pathological features of tumours in carriers (S10 Supporting Information, part A) [2,3]. Although the data are scarce, our review supports what was earlier suggested by others [66], i.e. that that the therapy response of tumours in BRCA1/2 mutation carriers might be better compared to that in non-carriers. Future studies should provide insight into the potential confounding or mediating role of treatment when examining survival of BRCA1/2 mutation carriers."

BarredOwl

BarredOwl

Hi elise24601:

I do not think there is a "truth" here, but only a current understanding based on the strength of available studies, which have certain limitations and do not appear to be entirely consistent. Your counselor is providing you with her opinion, based on her synthesis of the evidence, as applied to your specific case.

I note that the underlying 2013 AACR abstract (AACR #1338, Schmidt (2013)) from the BC.org summary link you provided refers to a meta-analysis of 63 studies. The same research group published a meta-analysis (now with 66 publications) in 2015:

van den Broek (2015): http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0120189

Data supplements are available at the "Supporting Information" link and can be downloaded.

A pdf version of the meta-analysis is available:

van den Broek (2015) PDF version: http://journals.plos.org/plosone/article/asset?id=10.1371/journal.pone.0120189.PDF

There appear to be numerous studies in this area and the results are not consistent. As explained in the Introduction:

"An impressive number of studies have already been conducted to address the association between BRCA1 and/or BRCA2 mutation carriership and breast cancer survival (Table 1 and Table 2). Study results were inconsistent, possibly due to differences in study design, study size, study populations and methodological rigor."

This meta-analysis reviewed a specific subset of published studies:

"Eligible publications were observational studies assessing the survival of breast cancer patients carrying a BRCA1/2 mutation compared to non-carriers or the general breast cancer population."

Using these criteria, "Sixty-six relevant studies were identified" for analysis (See Tables 1 and 2). The overall conclusion of the meta-analysis was:

"Conclusions

In contrast to currently held beliefs of some oncologists, current evidence does not support worse breast cancer survival of BRCA1/2 mutation carriers in the adjuvant setting; differences if any are likely to be small. More well-designed studies are awaited."

Please see the full text for a more complete discussion of the results and trends noted, along with associated caveats.

Although it could be in there somewhere, I could not find a reference to the study featured in their 2013 AACR abstract. Please do not hesitate to discuss with your team how the results from the study featured in their 2013 AACR abstract should be viewed in light of the conclusions from their later-published meta-analysis.

BarredOwl