Monday, February 28, 2011

BRCA HISTORY, RISKS, SURVEILLANCE AND PREVENTION AND HOW I MADE MY DECISION

I have had a lot of people ask me what are the history, risks and current options for surveillance and prevention for BRCA gene mutation carriers so I thought I would share this information.  The information below was the first piece of information I received with my positive tests results from myriad.  After consulting with several professionals, these options were the ones that everyone recommended that I spoke with.  I also wanted to document what the current options are so that when my girls or others read this in the future, they will see how things have changed, hopefully for the better. 

HISTORY:

BRCA1 (breast cancer 1, early onset, often pronounced /ˈbrækə/[1]) is a human tumor suppressor gene that produces a protein called breast cancer type 1 susceptibility protein. It originally stood for Berkeley, California,as the first evidence for the existence of the gene was provided by the King laboratory at UC Berkeley in 1990. The gene was later cloned in 1994 by scientists at Myriad Genetics, who continue to have a monopoly on all BRCA genetic testing.  BRCA1 is expressed in the cells of breast and other tissue, where it helps repair damaged DNA or destroy cells if DNA cannot be repaired. If BRCA1 itself is damaged, damaged DNA is not repaired properly and this increases risks for cancers.

For me, the finding of this gene mutation in the early 1990s probably saved my life from ending prematurely to breast or ovarian cancer.  It has only been in the last several years (2005 to present) that awareness about these gene mutations has been raised and women and men have begun to be tested for this mutation in higher numbers. The first commercials have been out on public television since summer of 2010 about BRCA Analysis testing through Myriad.  Various television networks have produced shows and movies about BRCA gene mutation carriers.  In September of 2010, the congress unanimously passed a bill that made the last week in September to be National Hereditary Breast and Ovarian Cancer Week (HBOC), which raised much more awareness. 


I found out that I carry the BRCA 1 gene when I was just turning 34.  Just eight short years shy of the age of the first person in my family (that I know of) passed away from breast cancer and also the age that my grandmother was diagnosed with ovarian cancer. 

RISKS:

Positive for a Deleterious Mutation: Overview

If your test result is either "Positive for a Deleterious Mutation" or "Suspected Deleterious":
  • You have a mutation or alteration in either the BRCA1 or BRCA2 gene
  • You have hereditary breast and ovarian cancer (HBOC) syndrome
  • HBOC syndrome increases the risk of various cancers, primarily breast and ovarian cancer
  • While the risk of developing these cancers is high, not everyone with HBOC syndrome will develop cancer
Your Cancer Risks

If You Have NOT Had Breast
or Ovarian Cancer:
Mutation CarrierGeneral Population
Breast cancer by age 5033%-50%2%
Breast cancer by age 7056%-87%7%
Ovarian cancer by age 7027%-44%<2%
Male breast cancer by age 706%.05%
If You HAVE Had Breast
or Ovarian Cancer:
Mutation CarrierGeneral Population
Ovarian cancer15%not available
Breast cancer after 5 years27%3.5%
Breast cancer by age 7064%11%
Other Cancer Risks:*Mutation CarrierGeneral Population
Prostate cancer by age 8020%15%
Pancreatic cancer by age 802%-4%<1%

Most of the specialists that I consulted about this stated that my personal risk most likely would mirror the other relatives in my family that also have the same gene mutation, even though this theory has not yet been 100 % proven.  Since I inherited this gene from my father and his mother's side of the family, I know that my paternal  grandmother had ovarian cancer around age 42, breast cancer at 48 and breast cancer again in the other breast at age 55.  One of her sisters, who was also a gene mutation carrier, passed away from breast cancer by the age of 42.  Her daughter had one of the first prophylactic mastectomies ever performed in the 70s, but then passed away from ovarian cancer at age 60 (diagnosed at 55).  A male cousin of mine was diagnosed with breast cancer at age 55.  So, the fact that I have relatives who have had both breast and ovarian cancer in my family and it is a very early onset beginning in the early 40s, the specialists stated to me that my risk was probably on the higher end (87 % for breast and 50% for ovarian) and that I would most likely begin to develop these cancers around age 40. 

Managing Your Risks:

Increased Surveillance
  • Monthly breast self-exams beginning between the ages of 18 and 21 and annual or semiannual clinical breast exams, beginning between the ages of 25 and 35
  • Yearly mammography and breast MRI beginning between the ages of 25 and 35 (or starting earlier, based on family history)
  • Annual or semiannual transvaginal ultrasound and CA-125 bloods tests to screen for ovarian cancer beginning between the ages of 25 and 35 (or starting earlier, based on family history)
Chemoprevention
  • Drugs such as tamoxifen or raloxifen have been shown to reduce the risk of breast cancer
  • Oral contraceptives may reduce the risk of ovarian cancer
Preventive Surgery
  • Preventive removal of the breasts (mastectomy) significantly reduces the risk of breast cancer
  • Preventive removal of the ovaries (oophorectomy) significantly reduces the risk of ovarian cancer, and also breast cancer
Proactive Cancer Management Reduces the Risks

Preventive Measures
Proactive Cancer Management Reduces the Risks
For Men
  • Regular monthly breast self-exam
  • Annual clinical breast exam
  • Talk to your doctor about mammography
  • Follow population screening guidelines for prostate cancer
A few others things to note: the ovarian screenings (transvaginal ultrasound and ca-125 blood tests) are most effective in discovering a recurring cancer, NOT an original cancer. 

It has been found that most BRCA 1 carriers when they get breast cancer, the type that they get is called triple negative breast cancer.  This subtype of breast cancer is generally diagnosed based upon the presence, or lack of estrogen in the three receptors on the cancer cells.  The most successful treatments for breast cancer target these receptors. Unfortunately, none of these receptors are found in women with triple negative breast cancer. In other words, a triple negative breast cancer diagnosis means that the offending tumor's three receptors are all estrogen receptor-negative, thus giving rise to the name "triple negative breast cancer." On a positive note, this type of breast cancer is typically responsive to chemotherapy, which is a BRCA 1 carriers only option when he or she gets triple negative cancer.  Because of its triple negative status, however, triple negative tumors generally do not respond to receptor targeted preventative treatments, such as the drugs listed above (tamoxifen and raloxifen). Depending on the stage of its diagnosis, triple negative breast cancer can be particularly aggressive, and more likely to recur than other subtypes of breast cancer.  BRCA 2 gene mutation carriers usually do not have triple negative breast cancer and therefore can take the prevention drugs listed above.   

As I have already written, after getting this information and consulting with a genetic counselor, a radiologist, a breast oncologist and a gynecological oncologist, I have decided to have both of the preventative surgeries.  The ovarian surgery was easiest to decide on because I have already been able to have two biological children and Nathan and I decided after our second child was born, that we were not going to have any more biological children.  ALL of the specialists recommended that I have an oopherectomy to remove my fallopian tubes and ovaries (Fallopian tubes too because most ovarian cancers start in the tubes since they are so close together).  NO ONE recommended that I keep them.  They based their decision on the fact that I have already had my biological children and that ovarian cancer is so hard to detect.  Most of the time once it is detected, it has already spread to other organs in the abdominal cavity, therefore, making treatment difficult or unsuccessful.  Even though the mutation that I have DOES NOT carry any additional risk for cervical or uterine cancer, I decided to also have my uterus and cervix (hysterectomy) removed at the same time because if I keep my uterus and cervix, I would have to go on an estrogen AND progesterone supplements and my breast oncologist told me that progesterone could feed more breast cancer for me.  Since BRCA 1 mutation carriers usually get triple negative breast cancer, there is no increased risk for taking an estrogen supplement.  Also, the hysterectomy/oopherectomy is an easy surgery to recover from.  It is a 2-hour, laproscopic surgery and I will spend one night in the hospital. After 1-2 weeks, I will back to normal with only a few restrictions on bathing and lifting.  On the down side, I will go straight into menopause, but more on that another time. 

So, that decision was pretty simple.  Get rid of the fallopian tubes and ovaries since I do not need them anymore and decrease my ovarian cancer risk by 96 %.  

The decision to have my breast removed was a little bit harder for me. Why? because it is major surgery, has a 4-6 week recovery time and reconstruction (which I am definitely doing) is a process and could take a year or longer.  I really had to weigh the risks of surgery with the risk of getting breast cancer.  I talked with several friends and family members who either had had breast cancer in their 30s or are diagnosed with breast cancer right now.  Every person I talked to stated that if they would have been given the option of surgery to prevent getting cancer, they would have done it in a heart beat.  Those who ended up having a mastectomy stated that it was the easiest part of cancer treatment-much easier than enduring months of chemotherapy and the insurmountable stress and strain having a diagnosis of cancer and dealing with treatment puts on you and your family. 

In the end, it was my 87 % risk for breast cancer coupled with the fact that the type of breast cancer I will most likely get (triple negative) is considered by ALL specialists to be aggressive, early onset, difficult to treat and a very high likelihood to recur, that made my decision for me.  So, I have chosen to have a prophylactic (preventative) bilateral (both breasts) mastectomy to reduce my personal risk of breast cancer by 98%. 

Thursday, February 24, 2011

WHO SHOULD BE TESTED?

I have had quite a few people ask me if they or who should be tested for the BRCA 1 or BRCA 2 gene mutation and I wanted to share the answer to this question with those of you who have asked.  You may have seen in the past 6 months commercials on televison about BRCA Analysis, which is the testing available for BRCA1 and BRCA2 through the Myriad Genetic Laboratories.  These gene mutations affect BOTH women and men and carry risks for both of them. So, ANY adult who can answer yes to at least one of the following questions should be tested:

1. Someone in your family has had breast cancer before the age of 50
2. Someone in your family, of any age, has been diagnosed with ovarian cancer
3. Multiple people in the same side of your family have been diagnosed with breast cancer
4. Any male in your family has been diagnosed with breast cancer at any age

I can answer "yes" to all four of these questions.  Even if one of these are "yes" for you, you should consider being tested.  If the person or persons in your family who have cancer are still alive, they should be tested first if they are willing, but anyone can be tested.  The information above is from a packet I received from the Myriad Genetic Labratories, the only lab in the US who processes the BRCA Analysis tests.  If you feel you should be tested, I would recommend that you call your primary care physician's office and ask about testing.  The test is a simple blood test that most doctor's offices have or definitely can get the test. It is sent off to the Myriad lab and your results come back in about 2 weeks.  The tests are not cheap since Myriad has a monopoly, but health insurances should cover part of the costs.  My insurance paid about 20% of the cost and then I have to pay $300 for the BRCA 1 single site test.  You can choose to have the full comprehensive test done for both BRCA1 and BRCA2 or do one of the two single site analysis.  The full comprehensive test costs well over 1,000, so if you knew which type of gene mutation you may have, it is best to just do that specific test.  Part of the new health care bill passed last year is supposed to ensure that anyone in the US has access to this test and access to affordable or free genetic counseling about your options for prevention.  Good websites to check out about BRCA1 and BRCA 2 testing are:  http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA, http://www.bracnow.com/, http://www.mayoclinic.com/health/brca-gene-test/MY00322

If anyone has any questions about this, feel free to ask me!

Tuesday, February 22, 2011

My blog has begun!!!!

I can't really believe it, I have started to write a blog.  I never thought I would do this.  Don't get me wrong, I do follow several blogs of my friends and many blogs of some of the families I have helped adopt children, but never thought it was for me.  Those of you who know me, know that I am one busy wife, mother, social worker, piano teacher, Bible study participant and exercise queen (well, not really, but I try) and I really do not have time to add one more thing to my life!!!! I also do not claim to be a good writer. In fact, I usually let Nathan handle the penning of important thank you notes and or writing our annual Christmas letter.  Writing has never been one of my strengths, but I do think that I have developed better writing abilities through my work as an adoption social worker since over my tenure in this field, I have probably written thousands of homestudies and post adoption reports (those of you who have adopted will know what I am talking about here) so if practice makes perfect, maybe I will do okay with this.

So, what am I going to be writing about in my blog? As you can see from my title, I am writing about my journey with hereditary breast and ovarian cancer syndrome.  No, I do not have cancer.  But, because I have the BRCA 1 gene mutation, my lifetime risk for breast cancer is up to 87% and my risk of ovarian cancer is up to 50%.  Compare to that general population of women with a 10-12 % lifetime risk of breast cancer and a less than 2 % lifetime risk of ovarian cancer, my risk is pretty significant.  My grandmother, whom I inherited this gene from, had both breast and ovarian cancer in her 40s.  She had a sister who passed away from breast cancer in her early 40s.  So, this gene mutation is real, it has an early onset and as the specialists have been telling me, it is aggressive, ugly, difficult to treat, but can be preventable.  I found out about my BRCA 1 status in September of 2010 and immediately began consulting with specialists in this field, scouring the Internet for information on this issues and talking to people that God has placed in my life who have had breast or ovarian cancer, have one of these cancers now or have the same gene mutation as me.  Through all of this research, consults with various specialists and a lot of time thinking and praying, Nathan and I have decided to have risk reducing surgery to hopefully prevent these cancers from ever becoming a reality for me.  I will be having a oopherectomy/hysterectomy in March of 2011 to prevent my ovarian cancer risk and a bilateral, prophylactic mastectomy, hopefully in May of this year.  Am I scared? Yes. Am I anxious? Oh, yeah! But, I know beyond a shadow of a doubt that this is the right decision for me.  God has given me a peace about this.  I believe that he is bigger than these circumstances that I have been dealt and that he is going to see me through them ALL THE WAY!! 

Now, to the why I am writing this blog? I know a lot of women with either BRCA 1 or BRCA 2 gene mutation blog about their experiences and decisions to express their feelings and help them cope with this overwhelming challenge of choosing surgery.  They even have creative and catchy titles such as "loosing the boobs" or "When the genes don't fit" or "I'm a previvor".  Some women may also blog about this experience to help enlighten the world about this issue and all of its implications and to empower other women (and men!) about their choices if they should have to experience the same thing. Believe me, I am all about therapy, developing healthy coping mechanisms, enlightenment and empowerment because, after all, I am a social worker and these words were not only drilled into me in graduate school, but are concepts I use in my everyday field of work.  But, to me, these reasons for blogging take a backseat to my real personal reasons for blogging.  My first and foremost reason for blogging about my BRCA 1 journey is because of my faith in my Lord and Savior, Jesus Christ and my belief that regardless of my circumstances, he deserves all praise, all honor and all glory.  I firmly believe that my God is bigger than my circumstances. I learned this week in my Bible study of Revelation that if I believe that God is big enough to conquer death and save this entire world, I should believe that he is bigger than any circumstance I may find myself in. Psalms 46:1 says that "God is our refuge and strength, an ever present help in times of trouble." God has always been there with me, even before I was born, he was there and will always be.  He will see me through good times and bad times and I should "Give thanks in all circumstances" 1 Thessalonians 5:18.  I am not mad at God for allowing this to happen to me, I give him thanks for who he is in my life and anticipate each day with him as he walks beside me on my journey. 

The second reason I have decided to begin this blog is for those two precious little girls you see in my profile picture.  These are the children that God has blessed me with in my life and entrusted to me to raise, to nurture, to love, to guide, to protect, to discipline and to teach.  Part of the reason I have chosen to undergo the risk reducing surgery is for them, so that I can be there for them for as long as I can.  My girls' reality is that they have a 50 % chance of inheriting this gene mutation from me.  Now, there is no BRCA testing for children, so it will be 10 plus years before either of them find out their fate on this, but if and when one of them does find out that they are also a BRCA 1 gene mutation carrier, I want to be their biggest supporter. Going through this experience, there have been so many times that I have thought, I need to remember this piece of information or what this person told me or how I felt about this, so I can share this with my girls someday, if needed.  And, I have come to a conclusion, there is NO WAY I am going to remember all of this!  So, I am going to use this blog to record everything I possibly can for them.  This blog is for them from their mother, who loves them more than her own life and would do anything for them.