Unlock the Secret to Managing Cancer Risk: How ATM Gene Mutation and Diet Could Save Your Life!

This article provides information about the ATM gene, its mutations, and the role of diet in managing the associated cancer risks. It is intended for general knowledge and should not replace professional medical advice.

Understanding the ATM Gene and its Mutations

Everyone inherits two ATM genes, one from each parent. The ATM gene is crucial for repairing DNA double-strand breaks and maintaining genomic stability. Mutations in this gene can lead to various health risks, including an increased risk of certain cancers. Due to defects in DNA repair, individuals with mutated ATM genes have an increased risk of cancer and immunodeficiency.

Hereditary Ataxia (HA) and the ATM Gene

Hereditary ataxia (HA) is a group of genetic neurodegenerative disorders characterized by the progressive loss of coordination and balance due to the degeneration of the central nervous system. Ataxia-telangiectasia (A-T) is one subtype of HA caused by mutations in the ATM gene.

Cancer Risks Associated with ATM Gene Mutations

Women with specific faults in the ATM gene, particularly the c.7271T>G mutation, face an elevated risk of developing breast cancer over their lifetime, estimated at around 50%. Women with other ATM gene mutations may also have an increased risk of developing breast cancer over their lifetime. Individuals with a faulty ATM gene and a family history of pancreatic cancer may also have an increased risk of developing pancreatic cancer.

Screening and Prevention Strategies

Breast Cancer:

Screening: Women with the c.7271T>G ATM gene fault should begin annual breast MRI screenings at age 30, continuing until age 60, with some needing to continue screenings past age 60. Other women should begin breast cancer screening starting from age 30-40 years with a breast MRI every year until age 60 years (some women will need to continue with breast MRI every year after age 60 years).
Women should begin breast cancer screening starting from age 40 years. This involves having a mammogram (and sometimes a breast MRI), every year until age 50 years. After age 50 years, these women should have breast cancer screening every 2 years.
Medications: Medications like tamoxifen or raloxifene may be considered to reduce the chance of developing breast cancer.
Surgery: Risk-reducing mastectomy lowers breast cancer risk by 90%, but has not been shown to improve survival. Even after double mastectomy, some breast tissue, and therefore cancer risk remains. More research is needed to show whether people with inherited mutations benefit from risk-reducing mastectomy.

Pancreatic Cancer:

Screening: Individuals with a faulty ATM gene and a family history of pancreatic cancer could undergo annual screening starting at age 50, or 5-10 years earlier than the age at which their relative was diagnosed. Screening involves endoscopic ultrasound or MRI.

Ovarian Cancer:

Symptoms: Become aware of ovarian and primary peritoneal cancer symptoms. Report to any symptoms that persist for several weeks and are a change from normal to your doctor.
Surgery: In people with mutations, risk-reducing surgery has been linked to longer survival compared to people who have not had surgery. More research is needed to show whether people with inherited mutations benefit from risk-reducing surgery to remove their ovaries and .
Oral Contraceptives: Have a discussion with your doctor about the benefits and risks of oral contraceptives for lowering ovarian cancer risk. Oral contraceptives (birth control pills) have been shown to lower the risk for ovarian cancer in people with mutations.

Prostate Cancer:

Screening: Have a conversation with your doctor about the potential benefits, risks, costs and limitations of screening for cancer. If you choose to have screening, the guidelines recommend a Specific Antigen () test. Many experts also recommend a digital rectal examination that allows your doctor to feel for abnormalities in the .

General Recommendations

Experts recommend following general population screening guidelines and considering your family history when managing risks, as there isn't enough research to show that people with an mutation benefit from extra screening or prevention for other types of cancer.

The Role of Diet in Cancer Risk Management

Cancer is a multifactorial disease, influenced by genetics and environmental factors. Diet is a significant environmental factor that can either increase or decrease cancer risk. An unhealthy diet can significantly increase the risk of cancer development.

Dietary Factors That Can Increase Cancer Risk

Carcinogens: These are substances that can induce DNA damage and mutations leading to cancer. Examples include:
- Nitrosamines: Formed during food processing and cooking, especially in processed meats like bacon, ham, and sausage. A 10-year study showed that consumption of ultra-processed foods can increase the risk of developing different types of cancer by 2%, as well as increase mortality rates.
- Heterocyclic Amines and Polycyclic Aromatic Hydrocarbons: Result from smoking and grilling meat at high temperatures.
Lack of Essential Nutrients: Poor nutrition and a lack of essential nutrients such as vitamins and minerals can contribute to cancer development. A lack of antioxidant nutrients such as Vitamins C and E can increase the oxidative damage that occurs in our bodies and promote cancer progression.
Excessive Dietary Fat Intake: A high-fat diet can lead to oxidative stress and the accumulation of free radicals, potentially causing DNA mutations and accelerated cancer progression.
Alcohol Consumption: Alcohol can generate reactive oxidative species that damage DNA, hinder nutrient absorption, and produce acetaldehyde, a toxic chemical leading to DNA mutations. According to World Health Organization, in 2020 about 4% of diagnosed cancers were due to alcohol uptake.

Read also: The Hoxsey Diet

Dietary Factors That Can Reduce Cancer Risk

Certain foods can reduce cancer risk. Fruits and vegetables like red apples, tomatoes, oranges, bananas, broccoli, spinach, and blueberries have been associated with reduced risk of head and neck, esophageal, stomach, lung, pancreatic, and prostate cancer.

Phytochemicals: Plant-based foods contain phytochemicals that can block cellular pathways leading to cancer development. Isoflavones are found in soy, lentils, and beans.
Antioxidants: Foods containing antioxidants like beta-carotene, selenium, vitamins, and minerals can help cells repair themselves, neutralize free radicals, and reduce cancer risk.
Garlic and Onions: These have anti-cancer properties, blocking the formation of nitrosamines and the rapid growth of cancer.

Everyday Dietary Habits for Cancer Risk Reduction

The American Cancer Society recommends a balanced diet rich in vegetables, fruits, beans, and whole grains to reduce cancer risk. Further recommendations include a diet that is low in red and processed meats, and low in sugar and sweetened drinks. The World Cancer Research Fund International (WCRF) and the American Institute of Cancer Research (AICR), also recommend reducing alcohol uptake.

Nutraceuticals and Dietary Interventions for Ataxia

Natural products (i.e., nutraceuticals) have had a long-standing reputation as valuable candidates in drug discovery, yielding exciting findings in alleviating symptoms and preventing disease progression in various conditions.

Thiamine (Vitamin B1): In FRDA, a study involving 34 patients treated with thiamine, also known as vitamin B1, at a dosage of 100 mg twice daily for up to 930 days demonstrated significant improvements in the Scale for the Assessment and Rating of Ataxia (SARA) score, deep tendon reflexes, swallowing, and interventricular septum thickness.
Vitamin B3 (NAD+ Precursors): All forms of vitamin B3 consisting of nicotinamide adenine dinucleotide (NAD+) precursors, nicotinamide, nicotinamide mononucleotide (NMN) and nicotinamide riboside (NR), improved the survival, cardiac function and FXN protein levels via epigenetic regulation in FRDA mouse models.
Calcitriol (Vitamin D): Calcitriol supplementation, the active form of vitamin D, has demonstrated benefits in increasing FXN protein levels in in vitro and clinical studies of FRDA.
Vitamin E (Tocotrienol): In FRDA cell models, vitamin E was found to help to prevent cell death by restoring calcium homeostasis in cardiomyocytes, while in human studies, it demonstrated improvements in cardiac function, lipid profiles and biomarkers related to oxidative stress and inflammation.
Butyrate: Recently, butyrate supplementation, a short-chain fatty acid produced primarily by the fermentation of dietary fibre, was shown to restore butyrate-producing gut bacteria and improve adipocyte metabolism, mitochondrial respiration and glucose tolerance of the FRDA mice.
Antioxidant Vitamins The vitamin A (P < 0.01) and Î±-tocopherol (P < 0.01) were associated with lower breast cancer risk as well as some water-soluble vitamins including vitamin B(2) (P = 0.01), vitamin C (P < 0.01), and folic acid (P = 0.02) intake.

Lifestyle Modifications

Eating a well-balanced diet, exercising on a regular basis and maintaining a healthy body weight have many health benefits. All three factors have been linked to better overall health and better outcomes related to cancer. This applies to people diagnosed with cancer and those who are at increased risk due to an . Balanced diet, exercise and ideal body weight are important strategies for staying healthy, but you should never rely on them alone to treat or prevent cancer. Experts, including the National Comprehensive Cancer Network (NCCN), American Cancer Society (ACS), American Institute for Cancer Research (AICR), and Centers for Disease Control and Prevention have guidelines on nutrition, exercise and ideal body weight relative to cancer risk, treatment and survivorship. Certain types of cancer, treatment or surgery can affect appetite and lead to weight loss or poor nutrition. Hormonal therapies and early menopause may cause weight gain. Weight gain can be common side effect from treatment or from early-onset menopause.

ATM and Oxidative Stress

Ataxia telangiectasia mutated (ATM) cells exist under a constant state of oxidative stress with high levels of reactive oxygen species, which are removed by cellular antioxidant vitamins.

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