Breast cancer is a heavy burden that only those who have carried it truly understand. As patients and survivors candidly reveal, battling breast cancer tests the limits of optimism and resilience. “It’s difficult to stay positive during such an intense time,” they reflect, expressing the deep emotional turmoil that comes with the disease. In moments of hopelessness, they confess, “Some days, you just want to crawl into a hole,” emphasizing the burden that cancer places not only on the body but also on the spirit.
Breast cancer is not just a medical condition—it affects every aspect of a person’s life, from their physical health to their emotions and mental state. It’s a journey overwhelmed with uncertainty and fear, requiring individuals to dig deep for courage and strength. But even in the darkest moments, there’s a glimmer of hope—a chance for empowerment through knowledge and action.
Understanding the link between genetics and breast cancer can change how we approach the disease. For example, by exploring the complexities of our genes, we can determine whether our risk of developing breast cancer is high. Armed with this knowledge, we can lower our risk and improve our chances of long-term health.
Explaining How Genes and Genetics Work
According to the CDC, about 5 to 10 percent of breast cancer incidences occur due to hereditary or genetic factors. These cases are attributed to abnormal genes passed down from one or both parents.
Genes are fundamental units of heredity composed of short segments of deoxyribonucleic acid (DNA) organized into thread-like structures called chromosomes. DNA serves as the template for protein synthesis, directing the function and structure of every cell in the body.
In essence, genes act as instruction manuals for cellular growth and operation. Mistakes or mutations in DNA are comparable to typographical errors within these manuals. Such errors can result in flawed instructions and compromise cell growth or function. Moreover, if a gene carries a mutation, it will propagate that same mistake in all cells containing that gene, akin to every copy of a manual carrying the same typo.
This analogy explains how genetic mutations can have widespread implications for cellular behavior. In the context of breast cancer, inherited genetic mutations can predispose individuals to an increased risk of developing the disease. Understanding the role of genes and their potential abnormalities is crucial for elucidating the underlying mechanisms of hereditary breast cancer and informing strategies for prevention, diagnosis, and treatment.
Can You Have a Faulty BRCA Gene Without Family History?
Yes, it is possible to have a BRCA mutation without a family history of breast or ovarian cancer. While a family history increases the probability of carrying a mutation in either or both the BRCA1 or BRCA2 genes, changes can occur spontaneously. These are called de novo mutations and can occur in individuals with no family history of the condition. Still, the majority of BRCA mutations are hereditary.
Genetic testing and counseling can clarify a person’s risk and guide decisions about screening, prevention, and treatment options.
Types of DNA Changes
There are two types of DNA changes:
- Germ-line alterations or mutations are genetic changes inherited from one’s parents and can be passed down through generations. They begin in the reproductive cells (sperm and egg) or at the very early stages of embryonic development. Consequently, every cell in a person’s body carries these mutations. Germ-line mutations can predispose individuals to certain inherited disorders, including various types of cancer. In the context of breast cancer, specific mutations in genes such as BRCA1 and BRCA2 are examples of germ-line mutations that increase one’s susceptibility to the disease.
- Somatic alterations refer to changes in DNA that occur in non-reproductive cells during a person’s lifetime. Unlike germ-line mutations, somatic alterations are not inherited and do not affect future generations. Instead, they arise spontaneously or because of external factors like exposure to environmental toxins, radiation, or as a consequence of cellular processes like DNA replication and repair. Somatic alterations accumulate over time, increasing the risk of developing diseases like cancer. In malignant breast tumors, somatic mutations in genes like TP53 and PIK3CA have been identified as drivers of tumorigenesis, leading to the uncontrolled growth and proliferation of cancerous cells within breast tissue.
Note that while some DNA alterations may be benign (noncancerous) and have no impact on health, others can result in mutations that predispose individuals to diseases and other medical conditions. Understanding the distinction between germ-line mutations and somatic alterations is essential for comprehending the genetic basis of various disorders, including breast cancer, and informing strategies for prevention, diagnosis, and treatment.
What Are BRCA1 and BRCA2 Mutations?
The majority of inherited breast cancers result from mutations in the BRCA1 (BReast CAncer gene one) and BRCA2 (BReast CAncer gene two) genes, which every person has, regardless of gender. Their normal function is to repair cell damage and maintain the healthy growth of breast, ovarian, and other cells. However, when mutations occur in these genes, their ability to perform these vital functions becomes compromised. As a consequence, the risk of developing breast, ovarian, prostate, pancreatic, and other cancers escalates.
Will a BRCA Mutation Always Lead to Cancer?
Possessing a BRCA1 or BRCA2 mutation does not necessarily equal an immediate or inevitable breast cancer diagnosis. Most people diagnosed with this malignancy do not have BRCA1/2 mutations nor a family history of breast, ovarian, or other cancers. In addition, ongoing research has shed more light on the complex role of various mutations, mainly single nucleotide polymorphisms, in elevating breast cancer risk among people with and without inherited gene mutations.
In other words, although BRCA1 and BRCA2 mutations contribute to a heightened risk of breast cancer, they represent just one piece of the broader genetic puzzle influencing breast cancer susceptibility. Moreover, since the absence of these mutations does not prevent the possibility of developing breast cancer, comprehensive risk assessment and tailored screening strategies for all individuals, regardless of their genetic profile, remain important.
Further reading: Types of Gene Mutations That Can Lead to Breast Cancer
How Likely Is Breast Cancer to Develop?
People with BRCA mutations have a higher-than-average likelihood of getting breast cancer. They are also more prone to developing malignant (cancerous) breast tumors at a younger age.
Women with a BRCA1/2 gene mutation can have a 45 to 65% chance of experiencing breast cancer before age 70. In men with a BRCA1 gene mutation, they have a 1 to 5% lifetime risk of developing male breast cancer, while men with a BRCA2 mutation have a 5 to 10% lifetime risk.
Fortunately, with this knowledge, high-risk individuals can create a custom early detection plan with their doctor. Early detection makes breast cancer significantly easier to treat. In general, the five-year relative survival rate for localized breast cancer is 99%.
What to Do if You Tested Positive for a BRCA Mutation
While BRCA1 and BRCA2 mutations increase the chances of developing breast cancer, making a few lifestyle changes may reduce the overall risk.
1. Avoid Unhealthy Weight Gain
Obesity is one of the most preventable risk factors for breast cancer, especially among postmenopausal women with BRCA mutations. Staying at a healthy, recommended weight may help lower the overall risk of cancer and other chronic health issues, including hypertension, type 2 diabetes, and heart disease.
To achieve and sustain a healthy weight, practice portion control, mindful eating, and regular physical activity. Avoid crash diets, harmful appetite suppressants like liraglutide, and extreme weight loss methods, as they can lead to metabolic damage and health problems.
2. Nourish the Body With the Right Food
Eat an assortment of healthy fruits, leafy greens, whole grains, lean proteins, and high-fat produce. These foods provide essential vitamins, minerals, antioxidants, and phytochemicals that support the body’s natural defenses against diseases like cancer. Cut down on sugary snacks and drinks, processed foods, and red meats, as they may cause the opposite effect. Read Nutrients That Can Reduce Risk of Tumor Growth and How Highly Processed Foods Are Slowly Killing Your Body for more information.
3. Abandon Sedentary Lifestyles
Regular physical activity is a must to reduce breast cancer risk, especially for men and women with BRCA mutations. Exercise helps maintain a healthy weight, lowers estrogen levels, and boosts the immune system. Aim for at least 2.5 hours (150 minutes) of moderate-intensity aerobic activity or 1.25 hours (75 minutes) of vigorous activity each week. Add variety to your exercise routine, including walking, jogging, cycling, or swimming, to keep it enjoyable and sustainable.
4. Reserve Alcoholic Drinks for Special Occasions
Drinking too much beer, wine, and other alcoholic beverages is associated with a heightened risk of several cancer types, including of the breast, and particularly among people with BRCA mutations. Limiting alcohol intake or quitting altogether can reduce cancer risk and may increase life expectancy. For those who choose to drink, do so in moderation—up to one drink per day for women and up to two drinks per day for men. Be mindful of portion sizes and choose lower-alcohol or alcohol-free alternatives when possible.
5. Don’t Let Stress Take Over
Stress is inevitable nowadays, but chronic stress weakens the immune system and contributes to inflammation, which may promote cancer development. No matter how challenging, try to find ways to manage stress. Practice mindfulness, deep breathing exercises, yoga, journaling, painting, or spending time in nature. For many modern-day men and women, playing video games, listening to audiobooks, cooking, walking a pet, or getting a mani-pedi also helps lower those stress levels. Simply prioritize self-care activities that bring joy and relaxation, may they be hobbies, creative pursuits, or spending time with loved ones.
6. Break the Smoking Habit
There are more than 100 reasons to quit smoking, including reducing the risk of breast cancer. For individuals already at higher genetic risk, smoking further raises the likelihood of developing malignant breast tumors. Quitting smoking allows the body to repair and rejuvenate, improving overall health outcomes and enhancing the efficacy of cancer prevention strategies.
Related: 13 Healthy Living Strategies for Breast Cancer Prevention
7. Consider Hormone Therapy
Hormonal therapy drugs, such as selective estrogen receptor modulators (SERMs) or aromatase inhibitors (AIs), may reduce breast cancer risk in individuals with BRCA mutations. These medications work by either blocking the effects of estrogen on breast tissue (SERMs) or by inhibiting the production of estrogen in the body (AIs). Since estrogen can fuel the growth of certain types of breast cancer, reducing its presence or activity can lower the risk of cancer development.
For those with BRCA mutations, hormone therapy can be a valuable preventive measure. Studies show that SERMs like tamoxifen and raloxifene can diminish the risk of breast cancer by 50 to 70% in high-risk individuals. AIs, such as exemestane and anastrozole, have also demonstrated effectiveness in reducing breast cancer risk, particularly in postmenopausal women.
On the one hand, hormonal therapy drugs may come with side effects and risks, including hot flashes, blood clots, and bone thinning. As such, men and women considering hormonal therapy should discuss both the advantages and disadvantages with their healthcare providers to make the best choice based on their health status and preferences.
8. Arrange Appointments for Clinical Breast Exams
Yearly mammograms, beginning at age 30 for women and 35 for men, are essential for the earliest diagnosis and treatment of breast cancer in those with a BRCA mutation. Likewise, an ultrasound or annual breast MRI can help detect early signs of cancer. Some doctors may recommend mammography with an ultrasound, alternating with an MRI scan every six months.
Stay informed about recommended screening guidelines and discuss personalized clinical breast exams with a healthcare provider. Also, be vigilant about performing monthly breast self-exams and reporting any changes or abnormalities to a doctor.
9. Screen for Ovarian Cancer
Screening for ovarian cancer often involves a combination of transvaginal ultrasound (TVUS) and CA-125 blood tests. TVUS uses sound waves to produce images of the ovaries, allowing healthcare providers to detect abnormalities or masses. A CA-125 test measures the protein CA 125 (cancer antigen 125) in the blood. This blood test can help look for signs of ovarian cancer in women with a faulty BRCA gene.
10. Think Positive
Optimism is a powerful asset for individuals with BRCA mutations. Having a positive mindset reduces stress and anxiety, increases life satisfaction, and boosts quality of life. In contrast, being negative can worsen stress and anxiety levels, which can wear down the body’s defenses and make it more vulnerable to illnesses.
What About Breast Cancer Preventive Surgery?
In 2013, American actress and filmmaker Angelina Jolie shocked the world when she had her breasts surgically removed after testing positive for BRCA1 mutation. She also chose to remove her ovaries and fallopian tubes, a procedure called preventative salpingo-oophorectomy. Her brave choices reduced her risk of not only breast cancer, but also ovarian cancer and fallopian tube cancer. Publicly sharing her experience also raised awareness about genetic testing and preventive measures for those at high risk of malignant diseases.
Prophylactic mastectomy (“prophylactic” means “protective”) is an invasive procedure that can lower breast cancer risk by 90% or more, though it does not guarantee immunity against breast cancer. It involves removing almost all of the breast tissue, leaving very few cells that could develop into cancer. Women with an abnormal BRCA1 or BRCA2 gene may also minimize their breast cancer risk by 50 percent if they undergo prophylactic ovary and fallopian tube removal before menopause.
To reiterate, no procedure — not even removing healthy breasts and reproductive organs at a young age — can 100% eliminate the risk of breast cancer. Therefore, regular screenings are still necessary after prophylactic surgery.
Should You Get Preventive Surgery If You Have a Faulty BRCA Gene?
Considering a mastectomy, whether for preventive or treatment purposes, is a decision requiring careful deliberation and consultation with a healthcare professional. Before undergoing such a procedure, open discussions with a cancer specialist are necessary to understand the physical, emotional, and psychological implications involved.
First, a doctor can provide information about mastectomy’s risks, benefits, and alternatives. They can explain the surgical procedure in detail, including potential complications and post-operative care requirements, helping individuals make better decisions about their treatment options.
Moreover, discussing mastectomy with a doctor enables a comprehensive assessment of risk factors, family history, and genetic predispositions. This personalized evaluation ensures that the decision aligns with the individual’s health and well-being.
Additionally, a doctor can offer guidance and support throughout the decision-making process, addressing any concerns or fears that may arise. They can also provide referrals to genetic counselors, mental health professionals, or support groups, providing additional resources and assistance.
The Bottom Line on Managing BRCA Mutations
While pursuing a healthy lifestyle and getting annual cancer screenings are non-negotiable for those with BRCA1/2 mutations, keep in mind that undergoing hormone therapy and prophylactic surgeries are optional. One must take their time when considering these options, as both require courage and long discussions with genetic counselors, doctors, oncologists, and loved ones.
When Breast Cancer Occurs
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