Snow Genes

Well, I found a reason to use this blog. Right now I am passing time and trying not to get too far ahead of myself with concerns about the implications of my dad having one of the breast cancer gene mutations. I am surprised that I have not yet been able to stumble on a lot of personal information about other people going through this situation. Being a physician, I am able to get a good deal of information out of the scientific studies, but really want to read about someone else who is at this stage of life. Guess I will need to talk to my aunt and cousin. Two sisters have the same decisions to make but are busy with other more pressing situations right now.

We found out in March that Aunt Mary Ann has a BRCA 1 mutation. It was a little bit of a surprise, because, she is the only one in her extended family to have ever had breast cancer. She was young, about forty when she had her cancer, and did have a recurrence. Apparently, her daughter, Brenda, convinced her to get tested, out of concern for her three daughters.

It took 9 months to get Dad and Grandma tested, and Dad's test also came back positive.

I had always considered myself at high risk for breast cancer. Dr. Merrill is very diligent about pointing out my reasons each year when she offers me tamoxifen and sends me off to my mammograms.
1. I am a single woman who has never been pregnant and never been on birth control.
2. Mom also had breast cancer when she was 40. She had LCIS (lobular carcinoma in situ) which is not considered an invasive cancer, but carries risk of future cancer in each breast. In 1988, when she was seeking treatment, her options ranged from "do nothing, the cancer is already removed with the excisional biopsy" to "radiation therapy" to " bilateral mastectomies." Mom is a registered nurse, who has worked on an OB/GYN ward for years. She decided that she did not have time for radiation therapy and did not want to worry about having her cancer return. She opted for bilateral mastectomies and seems to have been very satisfied with her decision.
3. Aunt Mary Ann - dad's sister had breast cancer around age 40.

Now, I have found out that I have a 50% risk of having inherited a breast cancer gene mutation from my dad, who apparently inherited if from his father, who probably got it from his father. Aunt Mary Ann is the oldest female relative along this familial line. She has one sister, who is also waiting for her test results and then I am the oldest of 14 cousins, 7 of whom are women still at risk of inheriting the gene mutation. Brenda has already been tested and has not inherited the mutation. She now knows that she and her daughters are not at increased risk because of this mutation.

So, what is the big deal? Turns out that the breast cancer genes are dominant genes that carry a very high risk of the carrier getting breast cancer (up to 85% of getting breast cancer by age 70) and a very high risk of getting ovarian cancer (up to 45% by age 70.)

Here is an outline of the whole testing process.

1. Assess whether you have a high risk of having breast cancer gene.
a. relative with breast cancer before menopause
b. two or more blood relatives having breast cancer
c. relative with ovarian cancer
d. relative with the breast cancer gene mutation
2. Get the right person tested. Best to get the person with breast or ovarian cancer tested.
a. if they test positive for a known breast cancer gene mutation, then the rest of the family can get a more specific, cheaper test for that specific mutation.
b. if they test negative for a known breast cancer gene mutation, then it is possible that there may still be a risk of a hereditary breast cancer not associated with a known gene. Then it is hard to assess risk of other family members.
3. Visit a genetic counselor, to learn more about risks of testing - fear, discrimination etc, and the implications of a positive or negative test. Counselor will assist in getting the proper details from the relative's test results. The lab is very picky about informed consent and proper releases of information.
4. Get tested. Wait 2 - 3 weeks to get results from genetic counselor.
5. If test is negative after a relative's test is positive- breathe a sigh of relief, and then re-assess your risk and plan healthy strategies. Your risk for cancer should be near the baseline 7% unless other characteristics raise your risk, or you have another relative passing on a hereditary risk from another blood line.
6. If test is positive - breathe anyway. There should be plenty of time to figure out what to do.

As a doctor, I deviated from the rules in a number of ways. First, I was recruited to be the one getting Grandma and Dad's tests organized. Insurance hassles and paperwork hassles galore. And then I was in the awkward position of knowing Dad's positive results as his doctor, but not having permission to tell anyone as his daughter. He was on his first cruise ever, with Mom in Hawaii. Ten days later, I got to talk to him about it. Fortunately, the implications for a man are minimal for the BRCA1 gene mutation that runs in our family, other than passing it on to daughters. Grandma's test is negative, and her memory is impaired, so I can't explain much about it to her, but have started disseminating details to her other 2 sons.

Caveat regarding the status of the medical information on this page: I am a physician but my specialty is physical medicine and rehabilitation. I treat patients with back injuries, carpal tunnel syndrome, strokes, chronic pain and amputations. I peripherally deal with people who have had cancer in the past and at times with cancer patients who have also broken a hip or had a stroke. Please do consult a geneticist or breast cancer specialist to get the latest, most correct details.

I did have good intentions of having talking with my doctor, seeing a geneticist etc, but got impatient. Sent in my test after getting my doctor's signature via fax. I did have a telephone conversation with her and set up a gyn appointment with the new doc in town. Spoke to the local genetics counselor, who was quite concerned I was doing things out of order.

I have also been surfing the net considering my strategies if my test comes back positive.

Interesting findings from today's search. Different mutations apparently have different risks of cancer. And found information about why testing is not perfect. Search Dr. Len's Cancer Blog at www.cancer.org

So... Worrying about treatment options for the genetic defect that I might not have:
1. surveillance - extra mammograms, ultrasounds CA127 testing etc.
2. Tamoxifen - anti - estrogen drug that lowers breast cancer risk. May increase uterine cancer risk, and does not protect against ovarian cancer.
3. Oophorectomy - lowers both breast cancer risk by 50% and ovarian cancer risk by 95%
4. Oophorectomy and Mastectomy - lowers both by 90%
This info comes distilled from the Myriad website www.myriadtests.com/provider/hboc.com And appears to match what I have read from other sites and medical studies.

The mutation in our family BRCA1 C61G is apparently a Polish "founder" gene and carries high risk to women but little risk to men.

Good advice from Pam last night and Jo this morning, about trying to think about what is right for me, and trying not to worry too much about what other people will think. Not sure they expected me to respond by publishing my situation on a public blog site.