Cancer Prevention: Genetic Testing and Vaccination

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In recent decades, the fight against cancer has shifted its focus. While treatment was once the primary emphasis, today, prevention is taking center stage. Advances in technology, a deeper understanding of disease mechanisms, and increased public awareness have made it possible to identify risks long before symptoms appear.

In countries where preventive programs are an integral part of public health policy, there has been a significant reduction in mortality rates. For example, in Australia, thanks to a national vaccination program against the human papillomavirus (HPV), cases of cervical cancer have halved over the past decade.

The World Health Organization (WHO) reports that HPV (particularly types 16 and 18) causes approximately 70% of cervical cancer cases.

In Germany and Israel, women with a family anamnesis of cancer are offered genetic testing programs to detect BRCA1/BRCA2 mutations.

Studies indicate that carriers of these mutations face up to a 60% increased risk of developing breast cancer.

This article explores the importance of genetic testing and vaccines in reducing the risk of certain cancers.

Genetic Testing

Every person’s DNA contains billions of pieces of information, forming a unique “genetic passport.” This passport holds key data about individual cancer risks. For instance, mutations in the BRCA1 and BRCA2 genes increase the likelihood of developing breast and ovarian cancer. Mutations in the APC gene suggest a predisposition to colorectal cancer, while changes in the TP53 gene are associated with the rare Li-Fraumeni syndrome.

Genetic testing allows for predicting the likelihood of cancer and taking preventive measures before the disease develops.

BRCA1 and BRCA2 Mutations: Breast Cancer Predisposition

Genetic testing for BRCA1 and BRCA2 mutations has been a widely discussed topic, especially after Angelina Jolie’s public decision to undergo preventive mastectomy.

What Are BRCA1 and BRCA2 Genes, and Why Are Their Mutations Dangerous?

The BRCA1 and BRCA2 genes are responsible for DNA repair, fixing genetic material damage in cells and preventing the accumulation of errors that could lead to uncontrolled cell division. Mutations in these genes impair this protective mechanism.

Mutations in BRCA1 and BRCA2 are primarily associated with increased risks of breast and ovarian cancer. Studies show that BRCA1 mutation carriers have up to a 72% lifetime risk of developing breast cancer and a 44% risk of ovarian cancer. For BRCA2, these risks are slightly lower: up to 69% for breast cancer and 17% for ovarian cancer. It’s essential to note that these figures are averages, and actual risks may vary depending on family history, lifestyle, and other factors.

Who Should Consider Genetic Testing?

BRCA1 and BRCA2 genetic testing is primarily recommended for individuals with a family history of cancer. Specific indications include:

1. Multiple cases of breast or ovarian cancer in the family, particularly at a young age (e.g., in mothers or grandmothers diagnosed before age 50).
2. A combination of breast cancer with pancreatic or prostate cancer among relatives, including male relatives.
3. Ashkenazi Jewish heritage, as this group shows a higher prevalence of BRCA mutations.

What to Do If a Mutation Is Detected?

A positive result for BRCA1 or BRCA2 mutations requires a personalized approach. Common recommendations include:

• Regular Monitoring: Mammography, breast MRI, and pelvic ultrasounds to detect cancer at its earliest stages.
• Preventive Medication: Certain medications can reduce breast cancer risk in high-risk women.
• Preventive Surgery: Prophylactic mastectomy (removal of breast tissue) reduces breast cancer risk by 90-95%. Oophorectomy (removal of the ovaries) significantly lowers the risk of ovarian and breast cancer by reducing estrogen levels.

We collaborate with specialized clinics offering these surgeries and provide simultaneous breast reconstruction for optimal medical and aesthetic outcomes.

APC Mutations: Increased Risk of Colorectal Cancer

Genetic testing for APC gene mutations is crucial for early detection and prevention of colorectal cancer, particularly for individuals with a family history of polyposis or colorectal cancer. Mutations in APC are strongly associated with familial adenomatous polyposis (FAP), which, if untreated, almost inevitably leads to cancer.

Why Do APC Mutations Occur?

The APC gene plays a vital role in regulating cell growth and maintaining intestinal tissue health. It encodes a protein that suppresses beta-catenin activity, a substance that promotes cell division. Mutations in APC disrupt this regulation, leading to excessive cell growth and polyp formation, many of which may become malignant over time.

Individuals with APC mutations face a significantly increased risk of colorectal cancer. In cases of classic FAP, most patients develop hundreds or thousands of adenomatous polyps by age 35, many of which become cancerous if not treated.

Who Should Consider Testing?

• Relatives of individuals diagnosed with colorectal cancer, especially before age 50.
• Families with confirmed FAP diagnoses.
• Individuals with multiple intestinal polyps (typically more than 20-30).
• Families with cases of other cancers (e.g., stomach, thyroid, or liver) linked to APC mutations.

What to Do If a Mutation Is Detected?

• Regular Screenings: Patients with confirmed APC mutations should undergo regular colonoscopies, typically every 1-2 years, depending on the number and type of polyps detected.
• Preventive Surgery: In cases with extensive polyposis, colectomy (removal of part or all of the colon) may be recommended. Advanced surgical techniques allow for minimally invasive operations and intestinal reconstruction. Our partners, leading surgical centers in Europe and the USA, offer the most advanced approaches, including laparoscopic and robotic methods.
• Medication: Some drugs may slow polyp growth, and consultations with a gastroenterologist-oncologist can help tailor the best approach.

Mutations in the TP53 Gene and Their Role in Tumor Formation

Li-Fraumeni syndrome (LFS) is one of the most severe hereditary cancer predisposition syndromes, characterized by the development of multiple tumors throughout life. Commonly observed cancers include adrenocortical carcinoma, breast cancer, central nervous system tumors, osteosarcomas, soft tissue sarcomas, and acute leukemias.

Mechanism of Action

LFS is associated with mutations in the TP53 gene, which encodes the p53 protein, a critical regulator of the cell cycle and a key player in preventing tumor formation. Under normal conditions, p53 acts as the “guardian of the genome”, monitoring DNA damage and initiating apoptosis (programmed cell death) when necessary. TP53 mutations disrupt these protective functions, enabling the proliferation of tumor cells, often at an early age.

Who Should Undergo Testing?

Li-Fraumeni syndrome often lacks specific clinical manifestations, and the diagnosis is typically made after the onset of a cancer diagnosis. Genetic testing for TP53 mutations is recommended in the following cases:

• Individuals with a first-degree relative diagnosed with cancer (e.g., sarcomas, breast cancer, brain tumors) before age 45.
• Individuals diagnosed with two or more primary cancers.
• Families with multiple cancer cases across generations, especially when diagnoses occur at a young age.
• Women with previously identified BRCA1/BRCA2 mutations, as the combination increases cancer risk.

Genetic testing for Li-Fraumeni syndrome is crucial under any of the above criteria to:

1. Take proactive measures against new or metastatic tumors.
2. Inform family members of the hereditary nature of the syndrome—there is a 50% chance of passing the syndrome to the next generation.

What to Do if the Test Result is Positive?

A positive TP53 mutation test indicates a high predisposition to developing various types of cancer. The recommended steps include:

1. Genetic Counseling: A specialist can help interpret the results and provide tailored advice.
2. Regular Screenings: Depending on individual risk, suggested screenings may include:
   – Breast imaging (MRI or ultrasound) and BRCA1/BRCA2 testing for associated mutations.
   – Abdominal ultrasound and adrenal scans for early detection of adrenocortical tumors.
   – MRI or CT scans to identify potential brain tumors.
3. Family Testing: First-degree relatives should undergo testing for TP53 mutations, especially children, who may develop cancer early. Comprehensive genomic analysis may help identify co-occurring mutations and refine risk assessments.

Screening for Low-Risk Individuals Genetic testing for TP53 is typically recommended based on specific indications and is not routine for individuals without significant risk factors. However, modern clinics equipped with advanced technology offer screening programs to identify mutation carriers even among low-risk populations. These expanded panels are particularly valuable for individuals seeking to assess their genetic health, such as those preparing for pregnancy or with indirect family risk factors.

Our affiliated medical centers provide access to advanced panels that cover a broad spectrum of mutations, offering comprehensive insights into genetic predispositions.

Vaccination Against Virus-Associated Cancers: HPV and Hepatitis B

Viral infections remain a significant cause of certain cancers, including cervical and liver cancers, which claim hundreds of thousands of lives annually. Both are linked to preventable infections—human papillomavirus (HPV) and hepatitis B (HBV).

However, despite the availability of effective vaccines, access to them remains limited in many countries. Meanwhile, leading clinics in Germany, Israel, and South Korea offer modern vaccination programs as part of medical tourism initiatives.

Cervical Cancer and HPV: The Role of Vaccines

Cervical cancer is one of the few types of oncology that can be almost entirely prevented. Its primary cause is the human papillomavirus (HPV). While over 200 types of HPV are known to science, only a few, such as strains 16 and 18, are considered highly oncogenic and are responsible for over 70% of cervical cancer cases. Additionally, HPV is associated with other cancers, including anal, oropharyngeal, and vaginal cancers.

Two of the most widely used HPV vaccines, Gardasil and Cervarix, have been groundbreaking in prevention efforts. Gardasil-9, an advanced version, protects against nine types of the virus, including those causing genital warts. Cervarix targets only the oncogenic strains 16 and 18, offering focused protection against cancer development.

The efficacy of vaccination is supported by extensive research. For instance, in Australia, where HPV vaccination was integrated into the national program in 2007, infections with high-risk strains decreased by 86% among young women, and the incidence of precancerous changes fell by nearly 40%. This success is attributed to high vaccination coverage, particularly among adolescents before the onset of sexual activity.

Hepatitis B and Liver Cancer

HBV is a leading cause of liver cancer, inducing chronic inflammation that can lead to cirrhosis and hepatocellular carcinoma. Vaccination has significantly reduced HBV-related complications. For example, Taiwan’s national vaccination program reduced childhood liver cancer rates by 75%.

The hepatitis B virus (HBV) is another significant factor linked to cancer development, specifically liver cancer. HBV causes chronic inflammation, which over time can lead to cirrhosis and hepatocellular carcinoma. According to the World Health Organization (WHO), approximately 900,000 people die each year from HBV-related diseases.

Vaccination against HBV was introduced in the 1980s and has proven effective. For example, in Taiwan, where the national vaccination program targets infants, the incidence of liver cancer in children decreased by 75%. Today, the hepatitis B vaccine is part of routine immunization schedules in more than 180 countries. In Israel, where vaccination coverage for newborns exceeds 95%, cases of chronic hepatitis B and related complications have been significantly reduced.

For patients in countries where Gardasil 9, the HPV vaccine, is not registered, traveling abroad might be the only option to receive this immunization. While hepatitis B vaccination is mandatory in many nations, the immunity it provides may weaken over time. Booster doses might be required every 7–10 years to maintain protection.

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The text has been verified

Verified by: Marianna Sharypova, Certified Physician and Medical Director of HMS with 20 years of experience in medical tourism.

Author: Anna Kukarkina, Physician