Renee Shelton - Butcher. Baker. Bibliophile. Breast Cancer Survivor. Not Necessarily in that Order.
An interesting breast cancer study published in JAMA, The Journal of the American Medical Association in March of this year and conducted by Allison W. Kurian from Stanford, showed that 3.55% of postmenopausal women in their study – who had no previous history of breast …
Subject Guide: Breast Cancer, BRCA+ Genetic Testing, and Prophylactic Surgery Introduction: This subject guide is for those newly diagnosed with breast cancer, or those who may have a friend or family member diagnosed with breast cancer. You’ll find information on what breast cancer is, types …
If breast cancer happened at an early age, or if there is a history of breast cancer in the family when you got the news, then your oncologist may recommend genetics testing. My oncologist suggested a visit with a genetics counselor as I was diagnosed with triple negative breast cancer in my early 40s. Turns out, I tested positive for BRCA2 gene mutation.
This post will go into things to consider for genetics testing, as well as info I learned about the BRCA2 gene mutation along the way.
Other posts on the topic:
BRCA Mutations More Prevalent in Postmenopausal Women Than Previously Thought
Subject Guide for Those Newly Diagnosed with Breast Cancer or the BRCA2+ Gene
Every woman who has breast cancer shouldn’t worry if they carry the gene mutation – as BRCA1 and BRCA2 mutations make up actually only a small portion of breast cancers.
Both the BRCA1 and BRCA2 gene mutations are damaged genes that are passed on through the family lines which places the carrier at a higher risk for getting certain cancers in their lifetime. It could come from either side (your mom or your dad’s side), and dads can pass it on to their daughters so don’t think it is only a maternal gene. In my case, the BRCA2 gene came from my father’s side.
The answers to these questions will help determine if genetics testing should be considered.
My personal recommendation is to see a genetics counselor first before thinking about getting tested. The advantage of seeing an actual genetics counselor is that that person will literally spell out every detail regarding the genetics testing, and answer any questions you have. Genetics counselors are experts in the field of DNA and genetics, and they can explain in detail what gene mutations are. The genetics counselor will actually help you decide if the testing is needed for your case, too, and will help you go back through your family history to see if there is a pattern if you are unsure whether BRCA1/BRCA2 exists in your family. In my case, my genetics counselor through my insurance company was amazing. She was very thorough in her quest to see if genetics testing was right for me, answered all my questions (and there lots especially when it came to my children), and was patient and kind in giving me, at the time, the pretty devastating news. I now consider the news a great benefit as I have tailored my breast cancer therapy around it.
Other gene mutations can cause breast cancer, too, so screening for inherited mutations for genes other than BRCA1 and BRCA2 may be recommended.
You can be positive, negative, or be a variant of uncertain significance. Positive means there is a shift in the gene code and will be reported as pathogenic. Negative means no variation was detected. Variant of uncertain significance means there is a mutation but isn’t enough to classify it as fully positive (don’t think of it as a positive). If you are negative, you are normal. If you are positive, you are considered a carrier.
Remember these key points
If you currently have no breast cancer, the main benefit of testing and finding out you are negative is you can relax a little about the risk of future cancers and passing it on to your kids.
If you currently have breast cancer, the main benefit of testing and finding out you are positive is that you can be proactive in your cancer journey with drugs and prophylactic surgeries to prevent future cancers from forming. It also gives you a little relief in knowing there is a reason you got cancer in the first place. Meaning – there is a genetic explanation of why you got the cancer.
If you test positive but have no cancer yet, you can begin your screening for breast cancer at a much younger age than the general population. That is always good news to detecting and treating breasy cancer early.
This is something personal and will affect women in different ways. Testing positive to BRCA2 may be emotionally overwhelming. And if you have kids, then the information will eventually be given to them for their own health decisions, and this may be upsetting for any parent.
You may want to share the new with family members – and be prepared there will be two camps: those who will be positive and proactive, or and those who will be filled with anxiety. And both are valid reactions from other family members. Remember, this news is private. Deal with it first in your own way before you share the news with others.
As I am BRCA2 positive, I will not go into BRCA1. Basically, we all have the BRCA gene, and the BRCA gene functions to keep cancer from forming in the breast. When a mutation forms it doesn’t work properly, thereby increasing your risk for developing breast cancer. BRCA1 and BRCA2 are two different mutations of the BRCA gene. The BRCA2 gene is located at chromosome 13. If you are BRCA2+, it means there is a mutation for that gene at that spot, and you are at an elevated risk of developing some cancers.
My genetics counselor told me if there was a choice of BRCA1 or BRCA2, then it would be better to be BRCA2 positive. It usually strikes later in life (except in my case), and it is easier to treat, or rather, responds better to therapy.
The most commonly associated cancers with this genetic mutation are breast, ovarian, pancreatic, prostate, melanoma, and endometrial serous carcinoma – a rare form of endometrial cancer. The BRCA2 mutation is also called Hereditary Breast and Ovarian Cancer Syndrome.
What are the odds of someone testing positive and developing a cancer? This is from the company who did the genetics testing for me:
What are the chances of passing it on?
There are a number of ways to use this information in a proactive way. They involve either increased screening or prophylactic surgery.
When you are in your twenties, it is recommended for women to have an MRI or mammogram every other year, then every year after 30. Clinical breast exams by a doctor should be done every 6 months to a year, beginning at age 25. Self exams should be done monthly beginning at age 18 – this is important so that you can notice changes to your own breast early. Full body scans for melanoma cancer should be done. Wear sunscreen and hats and protect yourself from the sun! (Of course, you should be doing that already.)
Bilateral mastectomy before cancer develops will reduce the chance of developing breast cancer by at least 90%. I asked my surgeon why it doesn’t just move to 100% since the breasts are removed, and he said since breasts are made of mammary glands and not actual muscle, it is nearly impossible to remove all breast tissue. But 90% is a very good number. If you have had all your kids and you are between the ages of 35 and 40 – or past your child bearing years, removing the ovaries and Fallopian tubes will reduce ovarian cancer and if done before natural menopause further reduces the risk of breast cancer by up to 50%. Tamoxifen, a hormone therapy, reduces the risk for estrogen responsive cancers.
…is that it is not the end of the world if you test positive. Rather, it is the beginning of taking a heightened look at what you are doing for screening and what you can do to prevent a cancer from happening in the first place. At first the news can be upsetting, especially when kids are involved, but knowing all the facts makes knowing this news actually beneficial. And since the point is to be around for a long time to come, knowing whether you are positive or negative is something important to know so you can make the best health decisions for yourself.
Image of flowers courtesy Henry Lorenzatto via unsplash.
Article originally published October 2, 2016. It was updated on September 5, 2020.