Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479 Poznań, Poland.
Department of General and Endocrine Surgery and Gastroenterological Oncology, Poznań University of Medical Sciences, Przybyszewskiego 49, 60-355 Poznań, Poland.
Genes (Basel). 2022 Dec 10;13(12):2326. doi: 10.3390/genes13122326.
Cancer is one of the most common causes of death worldwide. A strong predisposition to cancer is generally only observed in colorectal cancer (5% of cases) and breast cancer (2% of cases). Colorectal cancer is the most common cancer with a strong genetic predisposition, but it includes dozens of various syndromes. This group includes familial adenomatous polyposis, attenuated familial adenomatous polyposis, -associated polyposis, -associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, Lynch syndrome, and Muir-Torre syndrome. The common symptom of all these diseases is a very high risk of colorectal cancer, but depending on the condition, their course is different in terms of age and range of cancer occurrence. The rate of cancer development is determined by its conditioning genes, too. Hereditary predispositions to cancer of the intestine are a group of symptoms of heterogeneous diseases, and their proper diagnosis is crucial for the appropriate management of patients and their successful treatment. Mutations of specific genes cause strong colorectal cancer predispositions. Identifying mutations of predisposing genes will support proper diagnosis and application of appropriate screening programs to avoid malignant neoplasm.
癌症是全球最常见的死亡原因之一。一般来说，只有在结直肠癌（5%的病例）和乳腺癌（2%的病例）中才会观察到强烈的癌症易感性。结直肠癌是遗传性最强的最常见癌症，但它包括数十种不同的综合征。该组包括家族性腺瘤性息肉病、家族性腺瘤性息肉病减弱、相关息肉病、相关息肉病、Peutz-Jeghers 综合征、青少年息肉病综合征、Cowden 综合征、林奇综合征和 Muir-Torre 综合征。所有这些疾病的共同症状是结直肠癌的风险非常高，但根据病情的不同，其发病年龄和范围也不同。癌症的发展速度也取决于其条件基因。遗传性肠癌易感性是一组异质性疾病的症状，对其进行正确诊断对于患者的适当管理和成功治疗至关重要。特定基因的突变会导致强烈的结直肠癌易感性。识别易感性基因的突变将有助于正确诊断，并应用适当的筛查计划来避免恶性肿瘤。
