Colorectal Cancer

By Linda Athanasiadou

Genetics plays a fundamental role in the development and progression of cancer. As someone who has faced the challenges of cancer treatment, I, Linda Athanasiadou, have come to some thoughts on how our genetic makeup can significantly influence both the risk of developing cancer and the effectiveness of preventive measures. In this article, I will explore how genetics impacts cancer risk, the role of inherited mutations, and how understanding these genetic factors can inform prevention and treatment strategies. I am not a doctor, it’s just my personal research.

The Role of Genetics in Cancer

Cancer is caused by changes (mutations) in the DNA that lead to uncontrolled cell growth. While many of these mutations occur as a result of environmental factors, such as smoking, radiation, or diet, some mutations are inherited from one generation to the next. Inherited genetic mutations can significantly increase the risk of certain types of cancer, and understanding these genetic factors can be crucial for prevention, early detection, and treatment.

Genetic mutations that increase cancer risk are often classified into two categories: those that are inherited (germline mutations) and those that occur during a person’s lifetime (somatic mutations). Germline mutations are passed down from parent to child and are present in every cell of the body, while somatic mutations are acquired during a person’s lifetime and affect only specific cells.

Inherited Genetic Mutations and Cancer Risk

Some genetic mutations are directly linked to an increased risk of developing certain cancers. One of the most well-known examples is mutations in the BRCA1 and BRCA2 genes, which significantly increase the risk of breast and ovarian cancer. Women who inherit a BRCA mutation have a much higher lifetime risk of developing breast cancer, with estimates ranging from 45% to 70%, compared to about 12% in the general population. Additionally, men with BRCA mutations are also at increased risk for breast cancer and other cancers, such as prostate cancer.

In addition to BRCA1 and BRCA2, there are other inherited genetic mutations associated with increased cancer risk. For example, mutations in the TP53 gene, which is responsible for producing a protein that helps prevent the growth of tumours, can lead to a rare inherited disorder called Li-Fraumeni syndrome. This condition significantly increases the risk of developing several types of cancer, including breast cancer, bone cancer, and brain tumours, often at a young age.

Lynch syndrome, caused by mutations in genes involved in DNA repair, is another genetic condition that increases the risk of colorectal cancer and other cancers, such as endometrial and ovarian cancer. Individuals with Lynch syndrome have a much higher lifetime risk of developing these cancers compared to the general population.

Genetic Testing and Risk Assessment

Genetic testing has become an invaluable tool in assessing cancer risk. By testing for specific inherited mutations, healthcare providers can identify individuals who may be at higher risk of developing certain cancers. This information allows for targeted preventive measures, such as increased surveillance, lifestyle modifications, or even preventative treatments.

For instance, women who test positive for BRCA mutations may choose to undergo more frequent breast cancer screenings, including mammograms and MRI scans, starting at an earlier age. In some cases, individuals with a high genetic risk may opt for prophylactic surgeries, such as a mastectomy or oophorectomy (removal of the ovaries), to reduce the risk of cancer.

Genetic testing can also provide valuable information for family members, as they may share the same genetic mutations and be at increased risk for developing cancer. Understanding the genetic risk within families allows for early intervention and more effective prevention strategies.

The Role of Somatic Mutations in Cancer

While inherited genetic mutations contribute to cancer risk, most cancers are caused by somatic mutations, which occur throughout a person’s lifetime. These mutations are typically the result of environmental factors, such as exposure to carcinogens, UV radiation, or the natural aging process. Somatic mutations can affect specific genes that regulate cell growth, apoptosis (programmed cell death), and DNA repair.

In fact, many cancers involve mutations in genes that are responsible for controlling cell division and tumour suppression. For example, mutations in the TP53 gene, often referred to as the “guardian of the genome,” are common in many types of cancer, including lung, colon, and breast cancer. The loss of this tumour-suppressor gene can allow cancer cells to proliferate uncontrollably.

Somatic mutations can also be responsible for the development of resistance to cancer treatments. Over time, cancer cells can acquire mutations that enable them to evade the effects of chemotherapy or immunotherapy. This is why ongoing research into cancer genetics and the development of targeted therapies is so important in improving treatment outcomes.

Preventing Cancer Through Genetic Understanding

Understanding the genetic basis of cancer risk provides opportunities for prevention. While we cannot change our genetic makeup, there are several strategies available to reduce cancer risk, particularly for individuals who are aware of their genetic predisposition.

Lifestyle Modifications

For those with a family history or genetic predisposition to certain types of cancer, adopting a healthy lifestyle can reduce the risk of developing cancer. Maintaining a healthy weight, exercising regularly, avoiding tobacco use, and limiting alcohol consumption are all key strategies for cancer prevention. A balanced diet rich in fruits, vegetables, and whole grains, as well as minimizing exposure to harmful chemicals and toxins, can further reduce cancer risk.

Targeted Preventive Measures

In addition to lifestyle changes, individuals at higher genetic risk may benefit from targeted preventive measures. For example, individuals with a BRCA mutation may opt for preventive surgeries, as mentioned earlier, or may choose to take medications like tamoxifen or raloxifene, which have been shown to reduce the risk of breast cancer in women at high genetic risk.

For those at risk of colorectal cancer due to inherited conditions like Lynch syndrome, regular colonoscopies starting at an earlier age can help detect precancerous polyps or early-stage cancer, allowing for early intervention.

Gene Therapy and Targeted Treatments

In the future, gene therapy may offer more direct ways to address genetic risk. Scientists are researching ways to repair or replace faulty genes that contribute to cancer risk. While gene therapy is still in its early stages, breakthroughs in this area could revolutionise cancer prevention and treatment, allowing for personalised approaches tailored to an individual’s unique genetic makeup.

Conclusion: The Importance of Genetic Awareness

Genetics plays a crucial role in both the development and prevention of cancer. Understanding the inherited genetic mutations that increase cancer risk can lead to early detection, more effective prevention strategies, and tailored treatments. Genetic testing and counselling can provide invaluable information for individuals and families, empowering them to make informed decisions about their health.

If you have a family history of cancer or are concerned about your genetic risk, it’s essential to speak with a healthcare provider or genetic counsellor. By understanding your genetic predisposition, you can take proactive steps to reduce your risk and improve your overall health.

It has never crossed my mind to write a grief list. Here goes... 1) I have just lost 2 very dear friends in the span of 10 days. Gunter on 3/3/22 and Isabelle on 13/3/22. It has TRIGGERED my "long-standing-undiagnosed-depression/they call it DYSTHYMIA" for over 12 years now since my mom died on 28/3/10. 2) I am 49 and have gone back to university to pursue a Masters's degree in order to gain back employment in the following year. 3) Meanwhile in the last few weeks/March still, I recently was suspected of colorectal cancer w the CTScan but the Colonoscopy was clear! It threw me off the rails. 4) I seem to have lost focus, interest, hypersomnia, and am rather dysfunctional. I DONT KNOW WOT TO DO or UNDO. Please help. Compassionate-constructive help is welcomed. xx

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#Depression

So…I’m back again. I had a foraminotomy on C6 and C7 in 2019. I got relief of all my radiculopathy symptoms once I fully healed and I thought, “Well, that was an interesting experience!!” And started to move on. Then, I got busy taking care of everyone else. My husband was diagnosed with Stage 3 Colorectal cancer. My daughter was diagnosed with Depression l, Anxiety, and OCD. Then Covid hit and my son’s Autism, ADHD, depression and anxiety got worse. My daughter’s depression, anxiety, and OCD got worse. My husband was in and out of the hospital with chemotherapy, radiation, and several surgeries. He’s cancer free now, but still dealing with effects from the surgeries and treatment. I started working out more to handle the stress of taking care of everyone. Then, I pulled an all nighter for work at my new job, my dream gig I just got…and my left hand was numb, the left pinkie and ring finger, the same side I had my foraminotomy on. Crap. I give it a couple of weeks, stretch, do yoga, etc, but it does get better. Meanwhile, as I was working out, I noticed weakness and shaking in my knees and legs that kept getting worse and my lower back was sore, but who’s isn’t really? Finally after my daughter nags me, I scheduled an appointment with my neurosurgeon’s NP. She orders a MRI of my neck and my husband reminds me of my lower back and convinced her to just get one of that, too. Well, from the report, neither sounded good. My neck added a few bulging discs to go along with the “severe foraminal stenosis,” and my lower back had bulging discs and a herniated disc at L5-S1. To my surprise, my surgeon wasn’t really worried about my hand or neck, but wanted to operate right away on the herniated disc at L5-S1. It was cutting off half the space for my spinal cord. I’m one week post-op from a microdiscectomy there. My hand is still numb and it’s kind of important to me because I work in IT and type for a living. I’m just worried that since he said my cervical MRI was “looking better,” that my hand is just going to remain like this. I’m happy my legs aren’t shaking and even a week post op my lower back feels better than it did before surgery, so I don’t want to seem ungrateful and st least it’s just numb instead of hurting like last time.
#CervicalRadiculopathy #DegenerativeDiscDisease #SpinalStenosis