There is an old saying: You can’t choose your family. You can’t pick your genes either, and that’s why it’s essential to understand the connection between breast cancer and your genes.
Dr. Nicole Umberger, Technical Director of Molecular Pathology for LifeBrite Labs, says family history plays an essential role in breast cancer risk assessment. Family history helps determine whether a patient should consider genetic testing for hereditary cancers.
“When combined with family history, results from genetic testing can support the need for potentially life-saving options not offered for general screening,” Dr. Umberger said. ”If someone’s family history suggests hereditary or familial cancer, or when they don’t know their family history or have a small family, genetic testing can support the need for increased surveillance.”
Since October is Breast Cancer Awareness Month, we thought it would be a good time to look at genetic testing in breast cancer detection. Dr. Umberger answered questions about BRCA1 and BRCA2, genetic testing for breast cancer, and the importance of early detection.
BRCA genes and cancer detection
Two tumor suppressor genes, BRCA1 and BRCA2, are associated with increased breast cancer risk. Usually, these genes help inhibit cells from growing uncontrollably, especially when they are damaged. However, a mutation in either of those genes increases the chances of getting breast cancer as well as ovarian, pancreatic and prostate cancer.
All people have BRCA1 and BRCA2 genes. About 1 in every 500 women has a mutation in either gene. And about 50 out of 100 women with a BRCA1 or BRCA2 gene mutation gets breast cancer by the time they turn 70 years old. For comparison, only 7 out of 100 women in the general U.S. population gets breast cancer by the time they turn 70, according to the Centers for Disease Control.
Identification of hereditary mutations as risk factors for cancer development dramatically impacted our understanding of how many forms of cancer develop. More importantly, it changed the research landscape, Dr. Umberger said.
In the 1970s, researchers suspected viruses caused breast cancer. In 1990, Dr. Mary-Claire King published a landmark paper in Science. The paper identified BRCA1 and her belief in a link between a genetic mutation and early-onset familial breast cancer.
A different group of scientists led by Dr. Mark Skolnick from Myriad Genetics cloned the gene in 1994. A year after that, scientists at the Institute of Cancer Research discovered BRCA2.
“Since I was still in elementary school (in 1990), I don’t recall the excitement of Dr. King’s discovery. I do remember the joy of everyone in my graduate school department over the 2013 Supreme Court ruling that ‘naturally occurring’ human genes cannot be patented,” said Dr. Umberger.
That ruling opened the door for increased testing on BRCA1 and BRCA2.
Family history and breast cancer
The early detection of an inherited risk of developing breast cancer provides multiple medical options. Those options include:
- Taking medications to lower the chance of developing breast cancer
- Starting yearly screening for breast cancer at a younger age
- Maintaining a healthy weight through exercise and smart habits
- In some situations, preventative surgery to remove the breast tissue
For women whose families have multiple cases of breast cancer, genetic testing provides family planning guidance, said Dr. Umberger. In addition, genetic testing makes sense if you have breast cancer or little or no family history.
LifeBrite’s inherited cancer screening
LifeBrite’s breast cancer panels cover genes across multiple syndromes with an increased risk of developing breast cancer, Dr. Umberger said.
“Hereditary breast and ovarian cancer (HBOC) syndrome is what most people are familiar with, and is caused by pathogenic variants in BRCA1 or BRCA2. Other syndromes, like hereditary diffuse gastric cancer, are also associated with an increased risk of breast cancer,” she said.
Genetic testing can help pinpoint other cancer threats. For instance, mutations in CDH1 can increase the risk of lobular breast cancer, as well as gastric and renal cancers. Mutations in BRCA1 or BRCA2 also can increase the risk of pancreatic and ovarian cancer.
“Pancreatic cancer is a difficult cancer to catch early, as symptoms usually don’t appear until the cancer has progressed to a late stage and spread to other parts of the body,” Dr. Umberger said. “Since screening methods for pancreatic cancer are often limited to individuals with a genetic predisposition, genetic testing, in this case, would provide support for this potentially life-saving screening.”
Talk with your doctor about genetic screening
In conclusion, if your family has a history of breast cancer that suggests you may have an inherited mutation, talk with your doctor. He or she may refer you for genetic counseling, which can help you decide on genetic testing.
Above all, keep in mind that early detection of cancer correlates with improved survival rates. Make sure to follow screening guidelines established by the American Cancer Society. If you have questions about LifeBrite Labs’ inherited cancer screening panels, contact us.
Atlanta-based LifeBrite, led by CEO Christian Fletcher, operates LifeBrite Community Hospital of Early and LifeBrite Community Hospital of Stokes. To learn more about LifeBrite Laboratories, visit our homepage.