BCR1 gene

Hi Krista,

I'm 46 and carry the BRCA2 gene. I didn't find out about my gene status until I had already been diagnosed with DCIS (stage 0) breast cancer. I had been adopted at birth so had no family medical history--what a shock this was. The results came in 5 days before my mastectomy was scheduled so I had to scramble to get my ovaries removed too. Because my cancer was found through a screening mammogram, I had absolutely no symptoms. I was only having a mastectomy because I had watched my mom die a terrible death from radiation fibrosis (it was the 70s when they thought more might help). 

As overwhelming as this is, this news puts the power in your hands. You most likely will never have to wait for biopsy results and hear the news "it's malignant." As helpless as you feel, you have the chance to save your own life. I will hope everyday that there are no stray cells that got away from my breast cancer. 

It's all so unfair, and I don't know why we were chosen to carry this burden. You're right, it is massive! I try to remember that there are many families who clearly have a genetic predisposition for cancer. Their gene has yet to be identified. All the research is focused on our genes now because they've been identified. You and I are just a little early in this game. I'm new to this whole thing too, but if there's anything I can do to support you, please don't hesitate to PM me.

Maura 

I was just reading this on Medscape

you might like to read it

  http://www.medscape.com/  

From Medscape Medical News

Impact of Risk-Reducing Strategies in BRCA Mutation Carriers Outlined

Zosia Chustecka

January 28, 2009 - Women who find that they are carriers of BRCA mutations, and therefore at a significantly increased risk of developing breast and ovarian cancer, have a variety of options that they can pursue to reduce that risk.

But choosing which option to pursue can be daunting task, especially because some can appear rather drastic, such as surgery in still-healthy women to remove the ovaries and/or breasts.

Advising women on which option to choose is a difficult task because there are no data from randomized trials that compare the various approaches, and it is unlikely that such trials will ever be carried out.

However, there are data on each strategy alone, and by combining all of these data, a group of researchers has come up with a computer-simulation model that quantifies the impact of each decision.

"Our analysis aims to enhance patient care by bridging the evidence gap," say the researchers, Allison Kurian, MD, and colleagues, from Stanford University School of Medicine in California. "We provide a computer model that integrates the best available data."

Details are outlined in a paper published in the January 10 issue of the Journal of Clinical Oncology.

This decision analysis will prove to be an important reference for physicians.

"This decision analysis will prove to be an important reference for physicians, other genetic professionals, and most importantly, patients with BRCA mutations," according to an accompanying editorial.

"The results of this study have the potential to markedly facilitate decision making," write the editorialists, Zsofia Stadler, MD, and Noah Kauff, MD, both from the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center in New York City.

Decision-Analysis Model

The computer-simulation model integrates empiric data from the literature to estimate the survival probability for women with BRCA1 and BRCA2 mutations.

The model simulates the life histories of a 1980 birth cohort of 1 million women with BRCA1 or BRCA2 mutations from the ages of 25 to 100 or death, whichever comes first, the researchers explain. The key findings are outlined below.

Better-Informed Choices

The authors hope that their computer model will "facilitate shared decision making, guiding women with BRCA1/2 mutations toward better-informed choices between prophylactic surgery and screening alternatives."

"Individual women make widely disparate choices about how to manage their cancer risks, depending on their family history, healthcare access, reproductive concerns, and concurrent diagnoses," Dr. Kurian and colleagues explain.

Our results can anchor such choices quantitatively.

"Our results can anchor such choices quantitatively, helping a woman weigh strategies that yield small differences in survival, yet potentially larger differences in physical and emotional effects, according to her preferences," they add.

Both the researchers and the editorialists point out limitations to the model, and note that there are many questions that have not been addressed, which could alter judgments about the efficacy and tolerability of the different strategies. For example, one issue is the affect of menopausal hormone therapy in women who opt to have an oophorectomy at an early age, and another is the impact of partial rather than complete mastectomies.

"Future updates will be needed," the editorialists write.

The study authors have disclosed no relevant financial relationships. Editorialist Dr. Kauff reports having served as a consultant and having provided expert testimony for Wyeth.

J Clin Oncol. 2010;28:222-231. Abstract

[CLOSE WINDOW]

Authors and Disclosures

Journalist

Zosia Chustecka

Zosia Chustecka is news editor for Medscape Hematology-Oncology and prior news editor of jointandbone.org, a Web site acquired by WebMD. A veteran medical journalist based in London, UK, she has won a prize from the British Medical Journalists Association and is a pharmacology graduate. She has written for a wide variety of publications aimed at the medical and related health professions. She can be contacted at ZChustecka@webmd.net.

Zosia Chustecka has disclosed no relevant financial relationships.

Medscape Medical News © 2010 Medscape, LLC
Send press releases and comments to news@medscape.net.

A couple of things I would like to mention.

First, our you being advised to get a hysterectomy rather than an oomphectomy?  The oomph only takes the ovaries and fallopian tubes.  Much less invasive, minor surgery and doesn't affect muscle.  That is the surgery I will be doing.  My thinking is that any problems that my show up in the future affecting my uterus will have symptoms (unlike ovarian cancer) and I will have time to deal with them if they do crop up.  So I'm for the less tramatic surgery.

Second, it could make a difference if you know more about your specific mutation.  I am not as familiar with the BRCA1 mutations since I'm BRCA2 but our research found that where your mutation occurs on the gene makes a difference in the percentages.  As an example, here is an except from some research my daughter did based on our BRCA 2 2024del5 mutation :

"Another important factor in risk variation is the Ovarian Cancer Cluster Region in BRCA2.  A mutation in this region has been found to lead to significantly higher risk of ovarian cancer. The region begins at nucleotide 3035 and ends at 6629.  51% of families with mutations in this region have a history of ovarian cancer. But for mutations before and after this region, only 29% and 34% have a history of ovarian cancer.  Our family mutation is before this region, so our risk of ovarian cancer is relatively low (compared to other mutation carriers).  But there is a trade-off here.  Mutations outside the OCCR also are correlated with higher breast cancer risks."

If there are variations on the BRCA 1 gene then it could be your risks of BC or Ovarian are different from the general statements.

I had a bi-lat mastectomy in early December.  I was diagnosed with Triple Negative BC and then found out I was BRCA1+.  Didn't want to go through this again.  The surgery wasn't bad and I was driving, etc.. after 5 days.  I did delayed reconstruction as my BS and PS were adamant that I do them seperately.  This is different from what most people do but they are the top doctors in their field in Washington and so I trust them.  Manage one thing at a time.

My sister (turning 40 in a month) found out last week that she is BRCA1+ as well.  Bummer.  She is definately having a hysterectomy but I think she will start with surveillance of the breast (assuming her first mammo/mri is OK - she hasn't had one yet).  Interestingly, I met with my BS today for a follow-up and I mentioned my sister and her decision.  He shocked me by saying that is not what he would do.  I was shocked because he is usually careful to say it is our decision, here are the facts.  I guess since she was not there and is not a patient he felt he could express his opinion.  I really appreciated his candidness.  The reason for his opinion is that recently, he has had 2 patients who are BRCA+ and have known it but did not prophylateclly remove their breast and now bone and/or lung mets.  He feels their Stage IV cancer was avoidable and just so sad.  At the end of our appointment he gave me a hug.  I was touched.  I will talk to my sister in a little while about his thoughts.

Good luck to you Krista.  It will not be fun but it is so much better than Cancer.

Anacortes Girl - We have chosen a hysterectomy over the oomph so that there is one less thing to go wrong with our bodies.  I spoke to a very good friend who is one the top Gyn in Seattle and that is her recommendation.  She said the risks of complications (prolapse....) is so little that this is what she would do herself (that says a lot to me).  My body is doing things I didn't expect so there will be one less thing to worry about.  It is a personal choice.

Most people don't have complications doing both together but when the PS described how we are removing our own tissue which is traumatic and then putting in a foreign substance, I realized lots can go wrong.  Also, the reconstruction surgery (implants for me) is much less of a big deal.  I will be asleep and given a local nerve block instead of the general anesthetia.  Sounds better to me.

If you think about it, let me know what Dr Calhoun says.  I won't be having the surgery until June or so and am still looking at options, just in case.  My onc thinks I should just do the oomph as the uterus has a purpose and holds other parts in place but my friend said that is not a worry.  It's easier when the doc says "you have to do _____".  Choices are good but difficult.  I had such a hard time making the decision to have the Bi-lat when I found out about the BRCA1+.  Now it seems like such an obvious decision.

Hi Krista, I am sorry to know that you carry the BRCA gene mutation.  The following is my background:  My mom was diagnosed with BC in 1991, had mastectomy, no adjuvant chemo, had mets to lungs and brain in 1993 and passed away when she was 43.  Also my maternal aunt was diagnosed when 37 and again when 47 but no mets and is a survivor.  We also have other cases of maternal aunts diagnosed with pre-menopausal BC.  All in all, my family knew that we have the hereditary predisposition for BC but we didnt really research about the BRCA mutation.  In recent years I was aware of this genetic mutation but always put off testing.  I am 33 right now and I thought I still have time to take appropriate measures.  Anyway I finally tested in July 09, and not surprisingly tested positive for BRCA 1 mutation.  However my PCP said I should not worry too much and he said again that I am too young to get BC.  I was thinking of prophylactic mas and oophorectomy but was not in hurry.  However fate had other plans. Although my screening mammogram in July 09 was negative, I started feeling a lump in my left breast in Nov 09, it turned out to be a 3.2 cm tumor with all the typical features (triple negative etc).  I had bilateral mas with TEs in Jan and will be starting chemo next week.  Just 6-7 months back I was thinking that I have time to take measures to not get BC at all and now I am looking at the depressing statistics of BRCA mutation carriers who do get BC.  Anyway I will whatever I can to live, I have a wonderful husband and a 5 1/2years old boy and hope to be with them for many more years.

 Sorry for the long story but my message is I wish I had researched more about the BRCA gene mutation more and done the prophylactic surgeries when I was cancer free.  I think your decision is absolutely right and this should give you courage to face the surgeries.