Polygenic score
Influential genes: PLCE1
Alterations or mutations in the PLCE1 gene have been identified as risk factors for esophageal cancer.
Carcinoma of the esophagus, the hollow muscular tube connecting the throat and stomach, is a tumor of the digestive tract. It is more frequent in men than in women. The incidence of this disease varies depending on geographical location. The assumption is that the higher prevalence in some countries is related to tobacco use, alcohol, and unhealthy diet.
Carcinoma of the esophagus, the hollow muscular organ connecting the throat and stomach, is a tumor of the digestive tract. It occurs when cells in the esophageal wall get out of control and start multiplying uncontrollably. Cancer can arise in any part of the esophagus. There are two main types, squamous cell carcinoma (occurring more in the upper esophagus) and adenocarcinoma (more in the lower esophagus). Together they account for over 95 percent of esophageal malignant tumors. [1] Rarer types of esophageal cancer include melanoma, sarcoma, and lymphoma.
Esophageal cancer is more frequent in men than in women. The incidence of this type of cancer varies according to geographical location, being most prevalent in Eastern Asia [3], where it has been linked to indoor air pollution among other factors. [11] It is also assumed that the higher prevalence in some countries is related to tobacco use, alcohol, and unhealthy diet. [2] Other risk factors include gastroesophageal reflux disease (GERD), being obese, drinking very hot liquids, or not eating enough fruits and/or vegetables, etc.
The most common symptoms of esophageal cancer include difficulty swallowing, chest pain or discomfort, chronic cough, and unintended weight loss. [2] These symptoms, however, can be caused by numerous other conditions, so it's always important to check in with your healthcare provider for a diagnosis. Early detection and treatment can improve outcomes and quality of life.
Esophageal cancer is a relatively rare form of cancer, accounting for only about 1,3% of all cancers (except for non-melanoma skin cancer) diagnosed in Europe in 2020. [4]
Risk factors for esophageal cancer include:
There are also non-modifiable risk factors such as age, sex, genetics, or family history. [2, 5]
While early detection and treatment can improve outcomes, esophageal cancer is often not diagnosed until it has advanced to a late stage, which can make it more difficult to treat.
It is important to address that there are many factors affecting disease development, such as ethnicity, geography, lifestyle, and habits. Barrett's esophagus (BE) is the main risk factor for esophageal adenocarcinoma (EAC) and even though clustering in families has been observed, most cases are due to somatic mutations. In the case of esophageal squamous cell carcinoma (ESCC), genetic changes in the TP53 gene have been observed in more than 83% of cases. Furthermore, epigenetics may also play a certain role.
Several studies have described familial BE and familial EAC as part of the same trait because EAC appears to develop from BE and both conditions share the same risk factors. Familial cases of EAC seem to have an earlier onset and are less associated with other known risk factors.[8,9]
Modern techniques including whole-genome sequencing, whole-exome sequencing, and comparative genomic array hybridization found that in more than 83% of cases of esophageal squamous cell carcinoma (ESCC), the TP53 gene was altered by mutations. Genetic alterations in cell cycle control genes such as CDKN2A, CHEK1, and CHEK2 have been identified in 2–10% of cases, and overexpression of the EGFR gene, which is associated with worse prognosis, has been observed as well.
Epigenetic mechanisms such as DNA methylation or histone modification are also important to mention because they can be connected to the development of ESCC and other tumors. Researchers detected hypermethylation in the APC, RB1, and CDKN2A genes in several cases of ESCC.[10]
Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development.
The most common symptoms of esophageal cancer include difficulty swallowing, which may feel like food is getting stuck in the throat or chest, chest pain or discomfort and chronic cough, and unintended weight loss. Other less common symptoms may include hoarseness or voice changes, regurgitation of food or acid, and heartburn.
If it is not diagnosed in the early stages, it can cause many complications, such as:
If esophageal cancer is suspected, the patient should be referred to a specialist (gastroenterologist) who will perform an endoscopic examination to visualize the esophagus and, if necessary, take a piece of the suspicious tissue (biopsy). If the presence of esophageal cancer is confirmed, further tests follow to rule out spread to other organs. These may include endoscopic ultrasound of the esophagus, bronchoscopy, CT scan, and PET/CT. Early diagnosis is essential to improve prognosis and quality of life.
Patients with esophageal cancer are treated by a multidisciplinary team. The treatment strategy varies according to the type of tumor cells, the stage of cancer, the patient's condition, and comorbidities.
Surgical removal of an esophageal tumor can be used alone or in combination with other methods that may precede or follow the procedure. The severity of the procedure depends on the extent of the damaged tissue. In very early, localized forms of cancer, this might provide a “definite cure”. [2]
Chemotherapy is a cancer treatment that uses drugs to kill cancer cells. It may be used before or after surgery and may be combined with radiotherapy. For patients with advanced findings (for example, lesions in distant organs), chemotherapy may be used alone as part of symptomatic care. [2]
Radiation therapy is a cancer treatment that uses radiation to kill cancer cells and shrink tumors. In the treatment of esophageal cancer, it is usually combined with chemotherapy and used before surgery. Like chemotherapy, radiotherapy can also be used as part of symptomatic care. [2]
Other methods include targeted therapy and immunotherapy, more recent treatment options that target specific molecules or immune system functions that are involved in the growth of cancer cells.
To reduce your risk of developing esophageal cancer, take the following steps:
In recent decades, the survival of patients with esophageal cancer has improved. However, the stage at which the disease is diagnosed is extremely important. Another decisive prognostic factor is the rate of weight loss.
The overall 5-year survival rate for oesophageal cancer is estimated to be around 20%. The earlier the cancer is detected the better the prognosis. Yet, esophageal cancer is a significant cause of all cancer deaths worldwide. [7]
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