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Lynch Syndrome: Causes, Symptoms, Diagnosis, Treatment, and Prevention

A genetic disorder known as Lynch syndrome raises the chance of getting several cancers, including endometrial and colorectal cancer. Gene mutations that usually repair damaged DNA and prevent cancer create Lynch syndrome. Individuals who have Lynch syndrome may have a family history of cancer and acquire cancer at a younger age. Cancer screening and genetic testing are two ways to identify Lynch syndrome. Immunotherapy, radiation therapy, chemotherapy, and surgery are available as treatments.

Causes

Because Lynch syndrome is inherited in an autosomal dominant fashion, a person can be affected by the disorder with only one copy of the faulty gene from either parent. The genes MLH1, MSH2, MSH6, PMS2, and EPCAM are implicated with Lynch syndrome. These genes produce proteins that aid in correcting mistakes made during DNA replication. These genes are mutated, which impairs DNA repair and causes the cells to accumulate mutations that may eventually cause cancer.

Symptoms

Lynch syndrome raises the chance of getting certain malignancies but does not produce any particular symptoms. Colorectal and endometrial malignancies are the most frequent cancers linked to Lynch syndrome. People with Lynch syndrome may also develop malignancies of the ovaries, stomach, small intestine, liver, kidney, bladder, brain, or skin.

The symptoms of cancer depend on the type, location, and stage of the cancer. Some of the possible symptoms are:

• Changes in bowel habits, such as diarrhea, constipation, or blood in the stool

• Abdominal pain, cramps, or bloating

• Unexplained weight loss or loss of appetite

• Anemia or fatigue

• Abnormal vaginal bleeding or discharge

• Pelvic pain or pressure

• Bloating or swelling of the abdomen

• Difficulty swallowing or indigestion

• Nausea, vomiting, or diarrhea

• Jaundice or yellowing of the skin and eyes

• Back pain or blood in the urine

• Headaches, seizures, or vision problems

• Skin changes, such as moles, warts, or lesions

Diagnosis

A physician will inquire about the patient's symptoms, medical history, and family history of cancer in order to diagnose Lynch syndrome. In addition, the physician will do a physical examination to look for any lumps, tumors, or enlarged organs that might be indicators of cancer. In order to confirm the diagnosis and ascertain the kind and severity of the cancer, the doctor could additionally prescribe certain tests, such as:

• Blood tests, which can check for signs of infection, inflammation, anemia, or organ function

• Stool tests, which can detect the presence of blood or DNA markers of colorectal cancer

• Urine tests, which can check for the presence of blood or abnormal cells

• Imaging tests, such as X-ray, ultrasound, CT scan, MRI, or PET scan, which can show the size and location of the tumors and their spread to other organs

• Endoscopy, which is a procedure that involves inserting a thin, flexible tube with a camera and a light into the body to examine the digestive tract or the uterus

• Biopsy, which is a procedure that involves taking a small sample of tissue from the tumor or the affected organ and examining it under a microscope to confirm the presence and type of cancer cells

• Genetic testing, which is a test that can detect the mutations in the genes that cause Lynch syndrome. Genetic testing can be done on blood or tissue samples, and can help identify people who have Lynch syndrome or are at risk of developing it

Treatment

Lynch syndrome therapy is based on the patient's preferences and general health in addition to the kind, stage, and location of the malignancy. The major objectives of treatment are to eradicate or eliminate the cancer cells, stop or postpone their spread or recurrence, and enhance the patient's quality of life. Among the possible therapeutic options are:

• Surgery is a process used to remove the tumor from the diseased organ along with a portion of the surrounding healthy tissue. Traditional open surgical methods can be used, or less invasive methods like laparoscopy or robot-assisted surgery can be used. Treatments including immunotherapy, radiation therapy, or chemotherapy may be used in addition to surgery.

• Chemotherapy is a medical procedure in which medications are used to either kill or inhibit the development of cancer cells. Chemotherapy can be administered orally (by mouth) or intravenously (via a vein), either by alone or in conjunction with other medications. Chemotherapy can be used as a palliative care to reduce symptoms and enhance quality of life, or it can be administered before to or following surgery.

• Radiation therapy is a medical procedure that damages or destroys cancer cells' DNA by using high-energy photons or particles. Radiation treatment can be administered internally—by injecting radioactive material into the body close to the tumor—or externally—by use of a machine outside the body. Radiation therapy can be administered as a palliative measure to reduce symptoms and enhance quality of life, or it can be administered before to or following surgery.

• Drugs that can activate or improve the immune system's capacity to combat cancer cells are used in immunotherapy. Immunotherapy can be administered intravenously, subcutaneously, or under the skin. It can also be administered in conjunction with other medications or on its own. When all other therapies have failed, immunotherapy can be used as a second line of treatment or as a first line of treatment.

Prevention

There is no definitive way to prevent Lynch syndrome, as it is a genetic condition that is inherited from the parents. However, some preventive measures that may help reduce the risk or severity of the cancer are:

• Genetic counseling and testing, which can help identify people who have Lynch syndrome or are at risk of developing it, and provide them with information and guidance on how to manage their condition and lower their cancer risk

• Frequent surveillance and screening can aid in the early detection and treatment of any cancerous indications, when the disease has a higher chance of being curable or managed. Colonoscopy, endoscopy, pelvic exam, Pap smear, ultrasound, or blood tests may be used for screening and surveillance, depending on the type of cancer and the patient's personal and family history.

• Prophylactic surgery, which is a surgery that involves removing an organ or a part of an organ that has a high risk of developing cancer, such as the colon, the uterus, or the ovaries. Prophylactic surgery may be considered by some people who have Lynch syndrome or a strong family history of cancer, and who have completed their childbearing or are not interested in having children

• Lifestyle adjustments, which comprise adopting good behaviors that can lessen the risk of cancer, such as stopping smoking, limiting alcohol intake, eating a balanced diet, exercising frequently, keeping a healthy weight, and avoiding exposure to dangerous chemicals or radiation