Originally published in Health Resource Digest (5/1/2024)
Samantha Hunt, 24 is a young cancer awareness advocate due mostly to the upbringing of two cancer survivors who are outspoken about environmental cancers and proactive testing ("Get Checked NOW!" program). She is in a graduate program for social work and grew up in a household in support of prevention and early detection.
Since she was 9 years old, Samantha took on personal studies on breast cancer when she watched her mother (Jennifer) undergo a bilateral mastectomy for early-stage breast cancer. Samantha's father was diagnosed with early-stage prostate cancer, and her maternal aunt also had breast cancer. By her late teens into her college years, Samantha was convinced that she needed to have early screening, which is when she discovered she had dense breast tissue- a condition that is present in over half of women in the U.S. [12]
Though currently testing negative for cancer, Samantha continues to undergo early detection through gene testing, ultrasound screening and maintains a significantly strict lifestyle of prevention (eating healthy/organic foods, no sugar, exercise, organic foods etc). Early in life, she learned the value of staying proactive and getting a second opinion- never resting on reassuring words from physicians. "Early on, my gyno didn't express any real sense of urgency about me getting an ultrasound test but gave me the referral just to make me happy...", stated Ms. Hunt. "Even today (and sometimes even in the past with other breast exams), I often feel like they do it so quickly and carelessly, and I feel stressed out after... I'm not convinced that I'm getting a proper examination!"
Samantha has received a total of 4 biopsies due to the "abnormally dense" breast tissue- a concern that scientists are now linking to breast cancer. [13] At an early age, Samantha took on a significant leadership role in her health to approve the biopsies despite the risk and concerns from her parents. "After my first sono, they found me to be 'very lumpy' and called on me to get a biopsy. None of us were excited about this but if I was going to get any peace of mind, I made a decision to go for it and I'm glad I did. Honestly think I'd be more anxious knowing there's something that a doctor recommended that I should get a biopsy on!"
Thursday, March 14, 2024
CANCER PREDISPOSITION, HEREDITY & GENE TESTING
NYCRA NEWS- Genetic Predisposition (Vol. 1- Spring Issue 2024)
By definition, diseases like CANCER are not directly hereditary. Unlike genetic traits and characteristics passed down to children like blood type and eye color, chronic diseases like cancer are recognized to be contracted through the environment (external impact). However, as cancer is a form of genetic mutation, genetic changes that increase the risk of cancer CAN be passed down or inherited. When a specific cancer type is prevalent in one side of the family, the cancer is recognized as a FAMILIAL cancer. Most of them are caused by genetic mutation in a gene related to cancer susceptibility. In addition, a term called "family cancer syndrome" (or "hereditary cancer syndrome") is a rare disorder in which family members have an above-average chance of developing a certain type or types of cancer. Family cancer syndromes are caused by inherited genetic variants in certain cancer-related genes. [1]
It is reported that up to 10% of all cancer cases may be caused by inherited genetic mutation or changes. These are called CANCER PREDISPOSITION genes. Individuals who carry a mutant allele of these genes have an increased susceptibility to cancer. It is now widely identified that an accumulation of genetic or epigenetic alterations affect the conversion of normal cells to cancer cells. [2]
GETETIC MUTATIONS
Oftentimes, researchers of hereditary cancers will reference breast cancer gene 1 (BRCA1) and breast cancer gene 2 (BRCA2). Specific alterations in these genes disable their function such that, inheriting such mutations may preclude you to contract breast (and other) cancers. Having a strong history of breast cancer may often be linked to acquiring a BRCA1 or BRCA2 mutation. Family members with BRCA1 or BRCA2 mutations often share the same mutation. [3]
Another predisposition scenario is Lynch syndrome; according to the CDC, carrying this condition holds a 1 in 2 (50%) heredity chance of your children also having Lynch syndrome. Genetic testing for Lynch syndrome can be considered once your children reach adulthood. Similarly, the most common are hereditary breast and ovarian cancer (HBOC) syndrome. Anyone with HBOC syndrome holds a higher risk for breast and ovarian as well as advanced and pancreatic cancers. [4]
GENE TESTING FOR CANCER RISK
Today's advancements in genetic tests can determine the possibility of an elevated risk of cancer. For those who come from a family with a history of breast and ovarian cancer make screening and treatment decisions. Not everyone needs to get genetic testing for cancer risk. Your doctor or health care provider can help you decide if you should get tested for genetic changes that increase cancer risk. They will likely ask if you have certain patterns in your personal or family medical history, such as cancer at an unusually young age or several relatives with the same kind of cancer.
Physicians may recommend genetic testing. It is advised to start with a genetic counselor who presents the potential risks, benefits, and drawbacks of genetic testing in your situation. Genetic counselors are also trained to review genetic test results with patients and/or their families and provide guidance in decision-making from those results. There are at-home genetic tests that one can order directly. Thanks to Dr. Google, there's more information on the types of consumer-accessible tests on the market- but these tests may have drawbacks or limitations when it comes to the prospect of genetic predisposition and genetic changes that increases cancer risk. Genetic counselors may be a helpful resource for identifying these test products as well.
For more information on what tests are available and who may want to consider them, visit the NIH/NCA Genetic Testing for Inherited Cancer Susceptibility Syndromes. https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet
REFERENCES
1) The Genetics of Cancer: NIH- https://www.cancer.gov/about-cancer/causes-prevention/genetics#:~:text=A%20family%20cancer%20syndrome%2C%20also,in%20certain%20cancer%2Drelated%20genes. The Genetics of Cancer | 2) Cancer predisposition genes: molecular mechanisms and clinical impact on personalized cancer care: examples of Lynch and HBOC syndromes - Published online 2015 Nov 30. doi: 10.1038/aps.2015.89 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4753377/#:~:text=Up%20to%2010%25%20of%20cancers,an%20increased%20susceptibility%20to%20cancer. | 3) Family Health History and the BRCA1 and BRCA2 genes/ CDC Centers for Disease Control and Prevention- https://www.cdc.gov/genomics/disease/breast_ovarian_cancer/fam_hist_genes.htm#:~:text=Normally%2C%20the%20BRCA1%20and%20BRCA2,%2C%20ovarian%2C%20and%20other%20cancers. | 4) Family Health History and Cancer: Which Hereditary Conditions Raise My Chances of Getting Cancer? / CDC Centers for Disease Control and Prevention- https://www.cdc.gov/cancer/family-health-history/index.htm#:~:text=Several%20hereditary%20conditions%20can%20raise,advanced%20prostate%2C%20and%20pancreatic%20cancers.
Part 2: CANCER PREDISPOSITION & THE ROLE OF GENETIC TESTING
By: Roberta Kline, MD
Cancer comes from one of two ways. One is that you have inherited genetic mutations that significantly increase your risk for specific types of cancer. But overall, that's a minority of cancer cases. The majority of cancers occur because of an interaction between your individual genes and the environment that they've been exposed to throughout your lifetime. Both of them can be tested for. And if you know what you're dealing with, you can create a plan that's specific for you that enables you to be proactive. This enables you to have that locus of control that you know what's going on in your body, but you don't know if you don't test. Therefore, TEST- DON'T GUESS! And then you can create your roadmap that works for you.
Especially with breast cancer, we know that 90% of the cases are not due to known inherited genetic mutations like BRCA1. The majority of them are due to very small changes in your DNA that interact with your environment over your lifetime that predispose you to developing breast cancer. But if you don't know that you have these predispositions, you can unknowingly be exacerbating the problem. If you've been tested and you know what your genes are doing, you can proactively create a plan to minimize your risk throughout your lifetime. "INHERITING CANCER & GETTING THE RIGHT TEST"
We understand genetic mutations to cause severe diseases, predominantly causing certain types of cancers. But rather than living in fear of what you may or may not have inherited from your parents, and whether you may or may not develop the same diseases that they carried- get tested, so you won't find yourself guessing. Through gene testing protocols, you can precisely identify where you need to focus your resources, your attention- and when you can let go of that (unnecessary) fear.
Because genetic testing can be very specific, one of the biggest challenges for proactive people about their health is to know WHAT to test for. What test do you use? Is there a test that's better for you than others? These are important questions and the amount of information available (while great) can be quite overwhelming. The best suggestion is to speak to a trained medical professional or a genetic specialist who can help you navigate through the vast collection of available tests to find what is right for you. What you want is a test that has value. And in order to have value, it needs to answer your questions and provide you a roadmap for what you can do proactively for your health for the future. 
DNA REACTIONS FROM ENVIRONMENTAL TOXINS:So when you look at the issue of breast cancer in Long Island and how it is tied to these environmental toxins, what you're seeing is these environmental toxins can potentially, if it's a large enough dose, create mutations in somebody's DNA, but what is most likely happening (and this I do have to check on,) what is most likely happening is it's overwhelming the body's ability to process these toxins. When your body processes any kind of chemical, including these toxins, it produces oxidative stress. When you have too much oxidative stress for your body to handle, this has a tendency of creating DNA breaks. So it's not the toxin directly causing DNA breaks necessarily, it's that your body can't get rid of that toxin fast enough or efficiently enough. And so its own biological processes that are supposed to deal with this are the ones that actually cause the DNA breaks (mutation) and the changes in the DNA that increase the risk of breast cancer.
This is the second part of that pathway by which estrogen as well as other chemicals can cause breast cancer. Conventional medicine pays attention to the binding of estrogen to the estrogen receptor causing proliferation. Excessive proliferation can lead to a higher chance of DNA breaks. Every time that DNA replicates, (which is what happens when you create proliferation) when the cells grow, every time that DNA replicates, there's a chance that it will cause an error in that replication and leave a mutation in the DNA. Now, we have lots of processes that are built in to safeguard against that. We have DNA repair mechanisms, we have all sorts of machinery that is designed to catch breaks in the DNA before they get integrated into the person's biology. If you overwhelm that, those breaks stay.
To note, estrogen itself is a toxin, even though we produce it ourselves. Studying the other part of estrogen metabolism, which is the same process that happens with all of these toxins is that it goes through what we call DETOXIFICATION or BIOTRANSFORMATION. You're transforming something that's potentially toxic, ultimately into a molecule or a chemical that is non-toxic and gets eliminated from the body. Within that process, you are often creating even more toxic chemicals in the intermediary stages, and that's what requires a high level of antioxidant defense as well as other biological systems to keep those contained and keep them in check and funnel them quickly into the benign molecules out of the body. This is the second way that you can create DNA damage that you can create cancer because you are overwhelming the body's ability to neutralize those toxic compounds that your body is creating as a result of whatever it's taking in. This has to do with oxidative stress, which is linked to INFLAMMATION, which we know underlies almost every cancer process.
ABOUT THE AUTHOR
