Wednesday, September 25, 2013

What is the BRCA2 gene?

Reviewed August 2007

What is the official name of the BRCA2 gene?

The official name of this gene is “breast cancer 2, early onset.”
BRCA2 is the gene's official symbol. The BRCA2 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.

What is the normal function of the BRCA2 gene?

The BRCA2 gene belongs to a class of genes known as tumor suppressor genes. Like many other tumor suppressors, the protein produced from the BRCA2 gene helps prevent cells from growing and dividing too rapidly or in an uncontrolled way.
The BRCA2 gene provides instructions for making a protein that is directly involved in the repair of damaged DNA. In the nucleus of many types of normal cells, the BRCA2 protein interacts with several other proteins, including the proteins produced from the RAD51 and PALB2 genes, to mend breaks in DNA. These breaks can be caused by natural and medical radiation or other environmental exposures, and also occur when chromosomes exchange genetic material in preparation for cell division. By helping repair DNA, BRCA2 plays a role in maintaining the stability of a cell's genetic information.
Researchers suspect that the BRCA2 protein may have additional functions within cells. For example, the protein may help regulate cytokinesis, which is the step in cell division when the fluid surrounding the nucleus (the cytoplasm) divides to form two separate cells. Researchers are investigating the protein's other potential activities.

Does the BRCA2 gene share characteristics with other genes?

The BRCA2 gene belongs to a family of genes called FANC (Fanconi anemia, complementation groups).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the BRCA2 gene related to health conditions?

breast cancer - increased risk from variations of the BRCA2 gene
Researchers have identified more than 800 mutations in the BRCA2 gene, many of which are associated with an increased risk of breast cancer. Many BRCA2 mutations insert or delete a small number of DNA building blocks (nucleotides) in the gene. Most of these genetic changes disrupt protein production from one copy of the gene in each cell, resulting in an abnormally small, nonfunctional version of the BRCA2 protein. Researchers believe that the defective BRCA2 protein is unable to help repair damaged DNA or fix mutations that occur in other genes. As these defects accumulate, they can allow cells to grow and divide uncontrollably and form a tumor.
other disorders - caused by mutations in the BRCA2 gene
A condition known as Fanconi anemia type D1 (FA-D1) results when two faulty copies of the BRCA2 gene are present in each cell. These mutations reduce the amount of the BRCA2 protein to very low levels. Without enough of this protein, breaks in DNA are not repaired normally and genetic damage can accumulate. As a result, people with Fanconi anemia are prone to several types of cancer, including cancers of blood-forming tissue (leukemias). They are also at an increased risk of developing solid tumors, particularly of the head, neck, skin, and reproductive organs. Additionally, people with Fanconi anemia experience bone marrow suppression, which causes an abnormal reduction in the number of red blood cells, white blood cells, and blood platelets made by the bone marrow. The reduced production of red blood cells causes the anemia characteristic of this disorder.
other cancers - increased risk from variations of the BRCA2 gene
In addition to female breast cancer, mutations in one copy of the BRCA2 gene can lead to an increased risk of ovarian cancer, prostate cancer, pancreatic cancer, fallopian tube cancer, male breast cancer, and an aggressive form of skin cancer called melanoma. Mutations in the central part of the gene have been associated with a higher risk of ovarian cancer and a lower risk of prostate cancer than mutations in other parts of the gene.
Genetics Home Reference provides information about Fanconi anemia, which is also associated with changes in the BRCA2 gene.

Where is the BRCA2 gene located?

Cytogenetic Location: 13q12.3
Molecular Location on chromosome 13: base pairs 32,889,616 to 32,973,808
The BRCA2 gene is located on the long (q) arm of chromosome 13 at position 12.3.
The BRCA2 gene is located on the long (q) arm of chromosome 13 at position 12.3.
More precisely, the BRCA2 gene is located from base pair 32,889,616 to base pair 32,973,808 on chromosome 13.

Here is a diagram I found:

Figure 2. The roles of BRCA1 and BRCA2 in DNA repair. (a) This model suggests that a macromolecular complex consisting of BRCA1, BRCA2, BARD1 and Rad51 functions to repair damaged DNA. Complex formation is preceded by phosphorylation of BRCA1 by the kinase ATM. In response to DNA damage, the complex relocates to chromosomal regions undergoing DNA replication marked by proliferating cell nuclear antigen (PCNA). (b) Loss of BRCA1 and/or BRCA2 function (indicated by dotted outlines) leads to inability to repair damaged DNA. When damage occurs to critical checkpoint genes, such as p53 (dotted outline), checkpoints such as p21 cannot be activated and cells proliferate. Modified figure reproduced, with permission from Elsevier Science, from Ref. 11 [Welcsh, P.L, Owens, K.N. and King, M.C. (2000) Insights into the functions of BRCA1 and BRCA2. Trends in Genetics 16, 69-74, PubMed] (fig002mgb).

Tuesday, September 24, 2013

Just Checking...

I made an appointment with the Huntsman Cancer Institute at IMC to speak with Dr. Nibley with the Utah Cancer Specialist Group.  I just wanted to see what else I might be able to do to reduce my risk of any cancers.  Should I have a yearly body scan to detect any cancers that might show up in my brain or lungs (like my mother had this last time)?  What are the symptoms of a brain tumor anyway?  I wanted to double check that indeed I didn't need any breast imaging, since I have an implant in there now.  What did they think about me taking an estrogen supplement? 

William E. Nibley, M.D.

Dr. Nibley earned his medical degree in 1991 from the George Washington University School of Medicine. He completed an internship and residency in Internal Medicine followed by a fellowship in Hematology/Oncology at the University of Utah School of Medicine. He is a member of the clinical faculty in the Division of Hematology/Oncology at the University of Utah. Dr. Nibley is board certified in Internal Medicine and Medical Oncology and board eligible in Hematology.

I went back and this practice has a mid-level provider speak with you first to find out your history and ask basic questions so they can brief the physician before meeting with you.  Anne Marceau, NP, came in to meet with me.  She was so nice and listened to my concerns. 

Anne Marceau, NP

Ms. Marceau, NP, earned a bachelor's degree in Nursing in 1988 from Fairfield University in Connecticut. She earned a master's degree in Nursing and a Nurse Practitioner Certification from Massachusetts General Hospital Institute for Health Professionals in 1997. Most of her nursing career has been in Oncology and Bone Marrow Transplant. She worked with the Utah Blood and Marrow Transplant Program at University of Utah Health Sciences Center, Primary Children's Medical Center and LDS Hospital. She is board certified as an Adult Nurse Practitioner.

After we spoke, she briefed Dr. Nibley and he came in.

Basically, they both said:
-I do not need any breast imaging since I have no breast tissue.  I should still do a self-breast exam each month.  This will most likely be the way that a tumor would be detected if one grows in the breast tissue that remains.

-They didn't think it would be beneficial to have a body scan or chest scan for lung cancer or brain scan for brain cancer.  They said that if I had the scan one day, then a brain tumor could form right after that.   Once they form they are quickly detected within 2 weeks because it's obvious that something is wrong.  Symptoms possibly include a headache that comes and goes, stroke-like symptoms, nausea and vomiting, disturbed visual patterns and seizures.  Anne said you might do abnormal acts like put your cell phone in the toaster.  And the treatment is the same for most brain tumors... you need surgery.  As for lung cancer, outside of smoking a leading cause is from radon gas.  He suggested that I have my home tested for radon just because it's a good idea to do so and it would reduce that risk factor.

-Dr. Nibley asked me how my body is reacting to not producing estrogen from my ovaries that were removed.  I said that I didn't notice BIG disruptions in my life.  I do get warm and toasty at times, and sometimes I feel a heaviness when I am stressed.  I guess I'd have to ask Dan if my behavior is altered and if I am more impatient.  Dr. Nibley suggested that estrogen does feed cancers, and the benefit of a low-dose estrogen would be for heart health, but perhaps on the conservative side, I should not take an estrogen supplement. I can monitor my heart health through other means.  Estrogen also helps with Bone Density.  When women go through menopause their bone density starts to decline.  So, since I am getting about a 10 year jump start on my bone density decline, I should be certain to take Calcium and Vit D supplements.  Anne mentioned that most pills don't have enough Calcium in just one pill, so I should be aware that I need 1500mg of Vitamin C each day and 800 units of Vit D (which helps in the calcium's absorption in the body).  That was good to note, since I was only taking one pill each day and I actually need to take 3 of the pill that I am currently taking.  (I should research to see what other calcium options are available.)  He also said that I need to do weight bearing exercise 3 times a week to keep my bones strong and healthy.

-Dr. Nibley handed me a print-out of the NCCN Guidelines for  Hereditary Breast and/or Ovarian Cancer Syndrome Version 4.2013.  He told me that he understands that I am a little "anxious" about reducing my risk of breast cancer, especially since I recently underwent the preventative surgeries and my mother passed recently.  He said that according to the guidelines, I really have done everything that I can.  I now have a risk that is that of the normal population or less even.  ( I did just notice a footnote that says "Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.  Quickly checking into that a bit more.  " suggest that FA patients with biallelic mutations in BRCA2 are at markedly high risk of acute leukemia during the first 5 years of life. Presence of biallelic BRCA2 mutations clearly mandates more intensive surveillance of the marrow and possibly “prophylactic” hematopoietic stem cell (HSC) transplantation prior to the development of myelodysplasia and AML. Further, FA patients who are compound heterozygotes for BRCA2 mutations are at high risk of solid tumors.17,18 Of the 14 patients with biallelic BRCA2 mutations in the IFAR database, 5 died of early onset brain tumors, primarily medulloblastomas,17 and 3 developed Wilms tumors." )

-The NCCN Guidelines state that I have a possibly higher risk for pancreatic cancer, but there isn't screening for that, and a higher risk for melanoma.  He suggested that I get a yearly check-up from a dermatologist.

Other than that, Dr. Nibley said that I really have done all the preventative measures that I need to.  He was a very nice doctor and listened and explained everything well.  I appreciate Anne and Dr. Nibley's time and care.

I wish a yearly screening could tell me that I'll be okay...

What things can I do that we talked about?
-Regular self-breast exams to detect breast cancer
-Weight bearing exercise 3 times or more a week for bone health
-Take 1500 mg Vit C and 800units Vit D daily
-Test home for radon gas

Wednesday, September 18, 2013

Life Insurance isn't covered by GINA

Sooooo.... if I had thought about this little kink in the road, I would have looked into a new life insurance policy BEFORE I started taking any steps in finding out about my BRCA2 mutation and BEFORE I made any doctor visits about reducing my risk through surgeries.

Because I didn't, now I really AM being discriminated against by life insurance companies...

I vented my frustrations on the (FORCE) message boards and I received a few replies that GINA only applies to Health Insurance.

This is pretty frustrating.  Even though I went through these surgeries to reduce my risk to be the same or better than the general population, I am only able to get 3rd tier coverage as a "healthy individual who is a non-smoker" and cannot qualify for the BEST rate available.

This is a bummer!

Learn from my mistake.

Q. Does GINA protect me when I buy life insurance or long-term care insurance?
A. GINA health insurance protections currently do not apply to the life insurance market or the long-term care insurance market. If you buy these types of coverage on your own, federal law does not protect you. However, some state laws may apply to these types of coverage. Check with your state insurance department for more information.


Life Insurance Rate Quote is WAY HIGH because of my BRCA2!

I currently have a life insurance policy with USAA.  First of all, let me say that they are a great company and I have really appreciated their customer service and insurance services.  My insurance policy I have had these past years with USAA is at a BEST RATE premium...meaning that I was the absolute most healthy that I could've been and I got the BEST RATE available.

Recently, I went through the process of applying for an insurance plan that would increase the amount of coverage and also increase the term-life of the policy.  I went through the process just after having my breast MRI to make sure there was no cancer before my mastectomy.  Because of this MRI and consulting with a physician about my options, a RED FLAG was raised regarding my health.  USAA underwriting requested my health records from 2011 to present and saw that I most recently had a mastectomy because of my BRCA2 cancer risk.

 I received a follow-up call from Kelly, an underwriter today.  She told me that she saw that I was BRCA2 positive and saw in my records that I consulted with a physician about my risk since my mother had breast cancer.  Kelly asked how old my mother was when she had her breast cancer.  I replied that my mother was 37 years old.  Then the underwriter told me that she would need to forward this information on to the medical director to make a decision.

Right away I was a little concerned.  On my application it just asked if I had a family member who died before the age of 60.  The answer to that is "No".  I answered every question on that application truthfully. 

The only reason there was any question, was because of a procedure that I chose to do to PREVENTATIVELY REDUCE MY RISK.  Now they determine that I have the BRCA2 gene...WHICH WAS NOT ASKED FOR ON MY APPLICATION... and they are forwarding on my case to the medical director.

They know that I have done surgeries that have reduced my risk to that of the normal population or better.

And then the phone call...
A sales gal explained to me that they would like to offer me coverage under the 3rd tier rate.  Instead of a $300,000 30-year plan at $32.89/month, I am offered a premium of $55.89/month!

She proceeds to explain that I have been offered the "Good Health Non-Smoker" rate that is the rate given to healthy individuals...with no "dings" charged against me (like for example, $5 per $1000 of coverage)...but there are no "discounts" given either because of my BRCA2 gene mutation.

She specifically told me that it is because of my BRCA2 mutation that I am not being given the best rate.  I ask to speak to the medical director and am handed over to the underwriter.  Kelly was very nice and she explained that she saw the BRCA2 mutation  in my records and wanted to give me the BEST rate, but needed to send it to the medical director to assess my risk.  She said she passed on the information that I had undergone preventative surgeries to reduce my risk, but wanted to see what could be done. 

I again received the confirmation from her that it is indeed because of my BRCA2 mutation that I did not receive the BEST rate.  "Well, and because of your family history too..." 

I asked her to please review the application where it asked for information regarding my mother's age of first having breast cancer or anything of that sort.  It's nowhere on the application.  They asked me about that after finding out I am BRCA2 positive.  I explained to her again that the only question is if my parent died BEFORE the age of 60years.  My mother did not die before the age of 60 years.

The only thing that led USAA to my medical records was the breast MRI "red flag" that has to do with my BRCA2 mutation.

I specifically asked her, "So, if it were not for the BRCA2 mutation, I would have gotten the BEST RATE?"  She replied, "Yes,  Because you have the BRCA2 mutation, you have an increased risk of getting breast cancer."

First of all, these two girls keep telling me what my risk is.  I KNOW MY RISK.  They think that they need to explain this to me so I understand why I am not getting the best rate.

BUT THE FACT that they are using my BRCA2 genetic mutation at ALL as a reason to not give me the best rate is what is alarming.

Yes, I have a genetic mutation that increases my risk of breast cancer.  According to the GINA ACT, employers and insurance companies cannot discriminate against me:

"Title I makes it illegal for health insurance providers to use or require genetic information to make decisions about a person’s insurance eligibility or coverage."

I even went forward and did preventative surgeries to reduce my risk to the average population or better than that!  Even if I didn't get those surgeries,  insurance companies cannot USE genetic information to make decisions about my insurance coverage...according to the GINA Act 2009.

I understand that they may think my risk is higher for cancer and they don't want to cover that risk at the Best rate premium...

#1) Nowhere on the application did it ask about my BRCA2 gene.  Why now, because they saw it in my medical records are they using that information to discriminate against me?
#2) Nowhere did it ask if I had a family member who had breast cancer ( and perhaps even if it did, I was told by the sales gal and by Kelly, that other than my BRCA2, I would have received the BEST RATE) to influence my rate.

Now that they have my full medical record from 2011 - 2013, they can suddenly discriminate against me?

I shared the GINA act with Kelly.  She still told me again about how my BRCA2 mutation increased my risk for breast cancer.  I explained again about the GINA act and how this information cannot be used against me.  I reminded her that my operations have REDUCED MY RISK to less than that of the general population, so I should even moreso not be penalized.  Even if I hadn't had the surgeries, GINA states that insurance companies cannot use my BRCA2 against me to make decisions about a person's insurance...coverage.

She said she will speak with the medical director again and get back with me.

I think that USAA needs to think on this one long and hard before they come back to me with a rate that is less than the BEST RATE!

We shall see how this goes...and if I need to take further action.

What is genetic discrimination?
Previous page Next page Previous page Next page
Genetic discrimination occurs when people are treated differently by their employer or insurance company because they have a gene mutation that causes or increases the risk of an inherited disorder. Fear of discrimination is a common concern among people considering genetic testing.
Several laws at the federal and state levels help protect people against genetic discrimination. In particular, a federal law called the Genetic Information Nondiscrimination Act (GINA) is designed to protect people from this form of discrimination.
GINA has two parts: Title I, which prohibits genetic discrimination in health insurance, and Title II, which prohibits genetic discrimination in employment. Title I makes it illegal for health insurance providers to use or require genetic information to make decisions about a person’s insurance eligibility or coverage. This part of the law went into effect on May 21, 2009. Title II makes it illegal for employers to use a person’s genetic information when making decisions about hiring, promotion, and several other terms of employment. This part of the law went into effect on November 21, 2009.
GINA and other laws do not protect people from genetic discrimination in every circumstance. For example, GINA does not apply when an employer has fewer than 15 employees. It does not cover people in the U.S. military or those receiving health benefits through the Veterans Health Administration or Indian Health Service. GINA also does not protect against genetic discrimination in forms of insurance other than health insurance, such as life, disability, or long-term care insurance.

For more information about genetic discrimination and GINA:

The National Human Genome Research Institute provides a detailed discussion of genetic discrimination and current laws that address this issue:

Monday, September 9, 2013


Such a dilemma... To wear or not to wear.  

I have always worn a bra...until my mastectomy surgery in January. 

Try wearing a bra when you have folds of skin and an expander under there just after that there is NO WAY to fill a bra no matter the cup size!  The only bra I was wearing was the compression bra those first days.  After that, I didn't want to "SMOOSH" my expanders and skin tissue down, so I opted to go braless for most of the time over the weeks and months of saline fills to expand my expanders. 

Also, the expanders end up being pretty "rock" hard and slipping a normal bra onto my breasts was ill-fitting and painful.  I can no longer wear underwire bras because of the possible rubbing of the underwire on my breast skin.  That's all I have and implant.  So, it may rub away my skin to leave a hole since I have no fatty tissue under my skin. 

I purchased two bras that didn't have an underwire.  The nipple part was left like a tent top that had nothing underneath it, since my breast doesn't move or conform with normal bras.  Normally, your breast lays into the bra and conforms and fills the bra cup.  My breasts have their own shape and they are still pretty rigid actually, even with the implant.  A darling blog friend, Marge, from the, told me that after 18 months, she is finally feeling a softening of her breast... so maybe it will come for me too.

For now, I found a generic Walmart Brand bra that is like a thin sports bra.  Inside breast portion are removable, soft cups.  Since it's more like a sports bra, it conforms to my rigid breast shape.  (When I say rigid, I mean that I wouldn't be able to push my breasts together so that they touch...they don't really move.  BUT, they are much squishier than the expanders.  AND I certainly happy with the appearance and the wonderful job that my plastic surgeon, Dr. Ferguson did.  I think it's just par for the course.  Reconstructed breasts have their own quirky characteristics.  I want to make sure that I cover as much detail as I can for my own girls or anyone else who is wondering about what their breasts could possibly be like after mastectomy and reconstruction.)

I like that generic Walmart Brand bra that the cute older, (well-endowed) Walmart apparel lady directed me to.  She uses the Genie Bra with triangular inserts, but showed me the cheaper, generic version, with round cup inserts.  She suggested that the triangular inserts sometimes flip and she would prefer round cup inserts, avoiding the flip problem.

As Seen on TV Genie Bra Small, Black/Nude, 2-Pack

So, I wear the "sports-like" stretchy bra when I am heading out into public...sometimes I forget to put it on... but it's not my favorite thing to wear a sports bra around...unless I'm being sporty.

Really, I think in the back of my mind I have been avoiding putting on a bra, because every time I put on my bra, I have to think about my boobs.  It has been one little way of not having to think about them ONE MORE TIME!  Since 8th grade, sitting on the floor with my siblings as Mom and Dad sat on the couch in front of us explaining that Mom had breast cancer...since just after my 2nd baby was born and my mom tested positive for BRCA2 and then going through the process with a genetic counselor to discover that I was a carrier...since having the idea of surgery looming in my mind until recently having the surgeries...MY BREASTS HAVE ALWAYS BEEN ON MY MIND! 

So, in a silly little way,  by not putting on a bra today, I say to my breasts, "Hey ladies,  I am going to give my mind  a little break today and not actively do anything with you today."  That's silly and of course, they are always on my mind... but if I think about my aversion to the bra lately, I think this is why.

After my most recent surgery, my darling sister sent me a gift card to Victoria's Secret.  I think that's exactly what I need... to find a pretty bra to help me feel that my breasts are pretty.  Of course, the shape and look is very nice and I am so grateful for Dr. Ferguson's expertise, but that little scar...
It doesn't really bother me too much... and as time goes...less and less.

I have been SO INCREDIBLY BLESSED to know about this gene and to have a caring husband who has supported this effort emotionally and financially.  I am in a blessed situation and I know this.  I just want to share all of my thoughts and experiences.  I am most grateful and so happy with how everything resulted.  I am most grateful!