At a recent exam, I was told it was a good idea to have genetic testing for the BRCA1 and BRCA2 gene mutation. It was recommended to me by my physician due to a family history of ovarian and breast cancer, through the mother’s lineage. However, I also have a paternal lineage of breast cancer as well. Although my physician didn’t seem overly concerned with the paternal lineage, studies have shown that a paternal lineage is important, especially if combined with a maternal lineage of these types of cancers.2
Recently my Grandmother died from ovarian cancer. Although she was 84 years old, it could still have been a genetic link, and not just advanced age, that caused the cancer. Not only that, but her mother, my Great-Grandmother, died from breast cancer when my Grandmother was only a child. The BRCA1 and BRCA2 gene mutations increase the chances of a woman developing certain types of cancers at a younger age, specifically breast and ovarian cancer.1 There is also an increased risk of cervical, uterine, pancreatic and colon cancers on the BRCA1 gene mutation; and increased risk of pancreatic (further), stomach, gall-bladder, bile duct and melanoma cancers on the BRCA2 gene mutation.1 There are over 200 mutations of these genes presently recognized. One in 800 women carries a genetic mutation to BRCA1 (numbers are currently unknown for BRCA2).2 Healthy BRCA1 and BRCA2 genes are actually supposed to be preventative of breast, and other related cancers.2
Now, if my Grandmother had carried the gene mutation it doesn’t mean that all of her children received it. Some may have and some may not have. Although the prevalence and types of cancers are greatly increased in women that carry these gene mutations, it is possible for a man to carry them and have an increased risk at certain cancers as well.1
What does this mean if you have the gene mutation?
A woman with this gene mutation is 5 times more likely to develop breast cancer than a woman who does not have this mutation. There is a 12 percent chance that any woman can develop breast cancer in her life, but with this genetic mutation the risk becomes 60 percent. In terms of ovarian cancer, the general female population risk is 1.4 percent, versus 15-50 percent with these harmful genetic mutations.1
Again – just because a woman might inherit these genetic mutations does not mean they will develop any of these cancers at all, it just increases their risk.
What happens if you have this genetic mutation?
What my doctor told me is that I will be monitored and tested more frequently for signs of these cancers. And for someone my age, that is really all it means.
It also means a lot to me. I want to know that I am being monitored appropriately, and that I make sure I make all my appointments, but I also want to understand my family history. There is a lot of information provided by this testing. It can explain what might have happened to a few of my relatives, and it also let’s me know risks of my children. It doesn’t make me worried; it makes me feel safer.
For other individuals with different medical histories, ages and health concerns other options for dealing with a positive result of these genetic mutations are chemoprevention, prophylactic surgery, risk avoidance, and surveillance.
The test itself
It is a simple blood draw that is analyzed, that provides results within several weeks.
Where do I go from here?
After looking at the lineage and types of cancers that developed down my mother’s line, I have come to the conclusion that I will opt for the testing. I am young, and just started a family in the last few years. I want to be sure that I am being monitored properly to get the best early detection if I developed signs of cancer.
The result of the genetic test will not change how I live now, other than making sure I get screened.
Breast Cancer and Your Genes. Webmd. http://www.webmd.com/breast-cancer/guide/breast-cancer-your-genes
BRCA1 and BRCA2:Cancer Risk http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA