The end of October may be drawing near, but it is still Breast Cancer Awareness month and coincidentally, some new research published in October, may help the cause.
We are never happy to report about the topic of this deadly disease; however, we are happy to report when new developments in cancer research carve pathways to truly understanding the causes and hopefully getting us on a stronger path to PREVENTION.
New studies published this week have divulged some new genetic causes of breast cancer.
- Normal lifetime risk of breast cancer is 12.5% for women in the US
- 72 previously unknown gene mutations that lead to the development of breast cancer were discovered in these new studies
- Over 550 Researchers from 300 institutions worldwide were involved
- 65 of the newly identified genetic variants are common in female breast cancer patients
- The final 7 of the 72 total mutations were found to prompt women to develop “estrogen-receptor-negative” breast cancer. This is the type of breast cancer that does not respond to hormone therapies (like tamoxifen).
- Now, there are approximately 180 total known variants that are associated with breast cancer (if you add in the previous research to these new developments).
- Blood samples from approximately 300,000 women were taken. About 50% of these women had breast cancer.
- Researchers used the DNA from these blood samples to look for genetic mutations.
- Researchers compared the DNA sequences in the women with breast cancer to those without, in order to detect subtle differences between them. They wanted to be sure these differences were not coincidental.
- A gene is a very long strand of DNA. “DNA is made up of nucleic acids, and when a nucleic acid is incorrectly placed along the strand, this is referred to as a genetic mutation. A mutation is a misspelling such that the gene cannot code the proper protein. A gene that cannot code the proper protein leads to disease.” said Dr. Otis Brawley, chief medical officer of the American Cancer Society.
- Maybe you have heard of the BRCA test? BRCA1 and BRCA2 are two well-known genes; when they contain mutations, it infers a high risk of breast cancer.
- 55% to 65% of women who inherit a BRCA1 mutation and around 45% of women who inherit a BRCA2 mutation will develop breast cancer by age 70, according to the National Cancer Institute.
- Unfortunately, what we know now about BRCA1 and BRCA2 explains very little about ALLL inherited breast cancers. Researchers wanted to discover the additional genetic mutations that can lead to breast cancer.
- These mutations may not individually have as big as an effect as BRCA1 and BRCA2 defects, but there are many of them, so their “overall contribution is larger,” said professor Doug Easton of the University of Cambridge, who led the investigation.
- A woman may have 2 or more of these common smaller risk gene mutations, so her risk for developing breast cancer increases due to their combined effects.
Why does it matter if the type of cancer is inherited or not?
- If a patient’s cancer is due to an inherited genetic mutation, they may have an increased risk of OTHER cancers
- Their treatment recommendations may differ based on this information.
- A patient’s family members could be affected (with the same mutation).
- Out of the 12.5% of women at risk for Breast Cancer in the US, 10% of breast cancers are hereditary.
- Due to this research, this 10% estimate may potentially be low.
What does this all mean to us?
- If a woman is found to have several of these smaller risk genetic mutations, she would benefit from earlier mammography screening.
- Breast cancer screening guidelines should be adopted. Right now, mammography guidelines are based on AGE alone as most insurance plans state that a woman is not able to have coverage for this screening until after age 35. If we adapt newer screening guidelines researchers feel that we will detect a higher number of breast cancers.
- Experts can determine that someone with no cancer (often a cancer patient’s relative/family member) is at risk and the developments from these studies help those experts quantify that risk.
- This is NOT just about Breast Cancer. The OncoArray which was the screening method used in research was designed to be used in many other cancer types, including prostate, ovary, colorectal and lung cancer.
- This is NOT just about Cancer. Dr. Brawley shared that “this type of genome wide screening is being used to identify genes that are associated with increased risk of a number of diseases, including diabetes, Alzheimer’s disease, stroke and heart disease.”
- The cost of the genetic screening is affordable. Obtaining blood or saliva for a genetic analysis is not costly.
- Experts hope the developments which pointed to regions of the genome that regulate nearby genes, may soon serve as targets for new therapies or drugs to cure the disease.
What needs to change?
- Currently, some women may not be covered by their insurance plans for breast cancer screenings if they are not the right age. This also applies to some men with BRCA mutations.
- Healthcare providers need to be given the ability to use genetic information to customize their care by giving patients reasonable access to the necessary preventive screenings.
As supporters of all the research behind finding a cure or preventing ALL cancers, we at A4M are hopeful that more studies like this surface to prove the importance of genetic testing to our nation, our government and our medical community. We need to work together to accelerate the END of breast cancer along with all cancers! For more regarding Cancer Education, register NOW for our 25th Annual World Congress with afternoon sessions based on specific cancer treatments or please click here to learn about our Integrative Cancer Fellowship!