Familial colorectal cancer is a group of genetically determined diseases characterized by the development of malignant tumors in the colon and rectum. This disease is an important public health problem due to its high morbidity and mortality among the population. Familial colorectal cancer often occurs in people with a family history of this disease, which is due to hereditary factors affecting the risk of developing colorectal cancer. It is important to note that among all forms of cancer, colorectal cancer ranks among the leading in terms of incidence, which emphasizes the need for early diagnosis and timely treatment.
History of the disease and interesting historical facts
Familial colorectal cancer was first described in 1832 by the British surgeon Henry Grant, who noted a link between heredity and the occurrence of bowel cancer. Since then, the study of this disease has advanced significantly, with active study of genetic aspects beginning in the 1980s. In the 1990s, genes associated with an unfavorable prognosis for the disease were identified, such as homologous recombination genes and others. An interesting fact is that genetic syndromes such as Li-Fraumeni syndrome and Pattau syndrome are associated with an increased risk of cancer, including colorectal cancer. This emphasizes the importance of family history and hereditary predisposition in predicting this disease.
Epidemiology
According to the World Health Organization, colorectal cancer is the third most common form of malignant neoplasm among men and women. Globally, the incidence is approximately 1.8 million cases per year. According to the National Cancer Registry, in Russia, colorectal cancer is classified as one of the leading causes of cancer mortality, accounting for more than 11% of all cancer cases. Notably, more than 30% cases are diagnosed at stages when the tumor has already metastasized. However, regular screening and improved early diagnostic methods combat this trend and help increase the chances of successful treatment.
Genetic predisposition to this disease
Familial colorectal cancer is often caused by mutations in certain genes, such as APC, MLH1, MSH2, MSH6, and PMS2. These genes play an important role in controlling cell division and DNA proofreading, and when damaged, they can lead to uncontrolled cell growth. Mutations in the APC gene are associated with Familiar Adenomatous Polyposis Syndrome, which leads to colon cancer at a young age. In addition, malfunctioning genes involved in DNA repair may also increase risk. There are tests available to detect these mutations, which can aid in early diagnosis and identify high-risk family members with a history of the disease.
Risk factors for the development of this disease
Risk factors for familial colorectal cancer can be divided into several categories:
- Hereditary factors: the presence of colorectal cancer in close relatives, the presence of polyposis or other genetic syndromes.
- Obesity and sedentary lifestyle: Physical activity reduces the risk, while excess body weight is associated with an increased risk of developing the disease.
- Smoking and alcohol consumption: Smoking tobacco and excessive alcohol consumption increase the risk of developing cancer.
- Diet: A diet high in red and processed meat and low in fiber may contribute to the disease.
- Inflammatory bowel disease: Chronic inflammatory diseases such as Crohn's disease and ulcerative colitis increase the risk of colorectal cancer.
Diagnosis of this disease
Diagnosis of familial colorectal cancer involves several steps, with the focus being on identifying symptoms early on. Key symptoms may include:
- Changes in bowel habits, such as constipation, diarrhea, or soft stools.
- The presence of blood in the stool or anal bleeding.
- Unexplained weight loss and weakness.
- Abdominal pain or discomfort in the intestinal area.
Laboratory tests may include stool tests for occult blood and various markers. Radiological examinations such as colonoscopy and virtual colonoscopy based on computed tomography allow visualization of the intestine and detection of possible neoplasms. In addition, it is necessary to conduct a differential diagnosis, excluding other diseases with similar symptoms, such as inflammatory bowel disease or infectious processes.
Treatment
Treatment of familial colorectal cancer includes several approaches, depending on the stage of the disease and the presence of metastases. The main treatment methods are:
- General treatment: This includes chemotherapy and targeted therapy to kill cancer cells.
- Pharmacological treatment: administration of drugs such as 5-fluorouracil and oxaliplatin.
- Surgical treatment: removal of the affected part of the intestine and lymph nodes, and creation of a colostomy if necessary.
- Other treatments: Immunotherapy and radiotherapy are used in certain cases to treat metastatic tumors.
List of medications used to treat this disease
The list of drugs for the treatment of colorectal cancer includes:
- 5-fluorouracil
- Oxaliplatin
- Irinotecan
- Capecitabine
- Cetuximab
Disease monitoring
Disease monitoring includes regular medical examinations, imaging studies, and tests to monitor the patient's condition. The prognosis is very good with early detection and proper treatment. However, in advanced stages, serious complications such as intestinal perforation or metastasis to other organs are possible. Therefore, regular examinations and preventive measures play a key role in managing this disease.
Age-related features of the disease
Familial colorectal cancer can manifest itself at different ages. In young and middle-aged people, it often develops in a more aggressive form, while older patients may have a more favorable course of the disease, predetermined by age-related metabolic characteristics and general health. However, all men and women over 50 are at risk and should undergo regular screening for early detection.
Questions and Answers
- What are the early symptoms of familial colorectal cancer? Early symptoms may include changes in bowel habits, blood in the stool, and general weakness.
- What is the critical age to start screening tests? Screening is recommended to begin at age 50, but if there are cases of colorectal cancer in the family, screening should be carried out 10 years earlier than the diagnosis of cancer in a close relative.
- Is it possible to prevent the disease? Adopting a healthy lifestyle, giving up bad habits and having regular medical check-ups can significantly reduce the risk of developing the disease.
- What are the main treatment methods? The main treatment methods include surgery, chemotherapy and radiotherapy.
- How often do I need to undergo follow-up examinations after treatment? Typically, follow-up examinations are scheduled every 3-6 months for the first two years, then less frequently depending on the patient's health status.
Advice from Dr. Oleg Korzhikov
Dr. Oleg Korzhikov recommends paying special attention to symptoms and not ignoring changes in the body. It is also important to actively discuss family history with your doctor to determine the necessary screening procedures. Rely on a healthy diet and regular physical activity to reduce risk. Do not forget to undergo regular examinations, especially if you have a predisposition to cancer, to ensure early diagnosis and successful treatment.
