Supporting Individuals Affected by Cancer at MKGenetix

At MKGenetix, we are dedicated to providing comprehensive and personalized genetic counseling services for individuals and families affected by cancer. Understanding the genetic factors associated with cancer can be crucial for effective management and prevention strategies. In this blog post, we will explore cancer and how MKGenetix can assist patients and their families in navigating the complexities of cancer genetics.

Understanding Cancer and Its Genetic Links

Cancer is a complex disease characterized by the uncontrolled growth and spread of abnormal cells. While cancer can occur due to various factors, including environmental and lifestyle influences, genetics plays a significant role in many cases. Understanding the genetic underpinnings of cancer can help in identifying individuals at risk, making informed decisions about treatment, and guiding preventive measures.

Here’s a closer look at key aspects of cancer genetics:

Inherited Genetic Mutations

• Typical Genetic Changes: Many cancers result from genetic changes that occur over a person’s lifetime, often due to environmental exposures or random errors in cell division. These changes are not inherited through a family and can be a natural part of aging
• Inherited Genetic Changes: Some cancers (5-10%) are linked to inherited genetic changes that increase the risk of developing cancer. Examples include changes in genes such as BRCA1 and BRCA2, which are associated with an increased risk of breast, ovarian, and other cancers.

Cancer Syndromes

• Typical Cancer Incidence: Most cancers occur sporadically, without a known genetic cause. For example approximately 8% of all individuals with breast tissue will develop breast cancer and approximately 4% of all individuals will develop colorectal cancer in their lifetimes.
• Hereditary Cancer Syndromes: Certain cancer syndromes, such as Lynch syndrome are associated with inherited genetic mutations that increase the risk of developing multiple cancers. For instance, Lynch syndrome increases the risk of colorectal, endometrial, and other cancers. For example, someone with Lynch syndrome may have up to an 80% chance to develop colorectal cancer.

Genetic Testing and Screening

• General Screening: Routine cancer screenings, such as mammograms or colonoscopies, are standard practices for early detection in the general population.
• Genetic Testing: For individuals with a family history of cancer or known hereditary cancer syndromes, genetic testing can provide valuable information about their risk and guide personalized screening and preventive strategies. It may change the screening recommendations.

Recognizing the role of genetics in cancer helps in understanding the risk factors and management strategies specific to each individual. At MKGenetix, we are committed to providing care that addresses these genetic factors and supports patients in making informed decisions about their health.

Why See a Genetics Specialist for Cancer?

Here are key reasons to consult a genetics specialist when dealing with cancer:

1. Identification of Hereditary Cancer Syndromes

Genetic specialists can identify hereditary cancer syndromes that may not be apparent through routine screenings. For example:

• Lynch Syndrome: Caused by genetic changes in the MLH1, MSH2, MSH6, and PMS2 genes, Lynch syndrome increases the risk of colorectal, endometrial, and other cancers. It occurs in about 1 in 300 individuals and is associated with early onset and multiple cancers in a family.
• Familial Adenomatous Polyposis (FAP): Caused by genetic changes in the APC gene, FAP leads to the development of hundreds to thousands of polyps in the colon, increasing the risk of colorectal cancer. It occurs in about 1 in 10,000 individuals.
• Hereditary Breast and Ovarian Cancer Syndrome (HBOC): Caused by genetic changes in the BRCA1 and BRCA2 genes, HBOC increased the risk of breast, ovarian, pancreatic, prostate, and other cancers. It occurs in 1 in 70 individuals and is the most common inherited cause of breast cancer.

2. Personalized Care and Management

Understanding whether a hereditary cancer syndrome is present allows for tailored care and management strategies. This can include:

• Customized Screening: Early and more frequent screenings tailored to the individual’s genetic risk.
• Preventive Measures: Preventive surgeries or other interventions based on genetic risk.

3. Access to Research and Resources

Genetic specialists can connect families to research opportunities and resources, including:

• Clinical Trials: Participation in trials for new treatments and interventions specific to hereditary cancer syndromes.
• Support Networks: Access to support groups and resources for families affected by genetic cancers.

4. Family Planning

Identifying a genetic predisposition to cancer can inform family planning and provide insights for other family members. Genetic testing can help understand the risk of passing on cancer predispositions to future generations and guide informed family planning decisions.

5. Understanding the “Why”

Many families want to understand the reasons behind cancer diagnoses. Genetic evaluation can provide clarity, reduce feelings of guilt, and empower families with knowledge about the condition’s underlying genetic causes.

Challenges in Accessing Genetic Services for Cancer

Families affected by cancer often face challenges in accessing genetic services:

• Limited Access: Genetic testing and counseling services may be limited in availability, leading to long wait times.
• Cost and Insurance Issues: Genetic testing and counseling can be expensive, and insurance coverage may vary.
• Lack of Awareness: There may be limited awareness about the benefits of genetic evaluations for cancer and the availability of specialized services.

How MKGenetix Can Help

At MKGenetix, we offer comprehensive genetic counseling and support for individuals affected by cancer. Our services include:

• Family History Assessment: Detailed evaluations to identify patterns and potential genetic links to cancer.
• Genetic Testing: Providing access to genetic tests for hereditary cancer syndromes, including BRCA1, BRCA2, MLH1, MSH2, and others.
• Detailed Consultations: Personalized support to explain genetic test results, their significance, and potential implications for the individual and family.
• Support and Resources: Connection to local and national resources, including support groups and specialized cancer care.

We are dedicated to providing compassionate, expert care to individuals with cancer and their families. Our goal is to empower you with the knowledge, support, and resources needed to manage cancer risk and improve the quality of life for your loved ones.

We look forward to supporting you on your journey and helping every step of the way.

Warm regards,

Megan Trinkle-Knotts, MS, CGC
Certified Genetic Counselor
Founder, MKGenetix

References

1. Moyer, V. A. (2012). Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement. Annals of Internal Medicine, 156(9), 746-754.
2. Lynch, H. T., & de la Chapelle, A. (2003). Genetic susceptibility to colorectal cancer. Nature Reviews Cancer, 3(10), 760-770.
3. Rutherford, C., & Fearnhead, N. (2012). Familial adenomatous polyposis: Pathogenesis and diagnosis. Family Cancer, 11(4), 565-574.
4. American Cancer Society. (2023). Cancer facts & figures 2023. American Cancer Society. Retrieved from https://www.cancer.org/research/cancer-facts-statistics/all-cancer-facts-figures/cancer-facts-figures-2023.html