Strong Hereditary Predispositions to Colorectal Cancer

• Published in: Genes 2022-12, Vol.13 (12), p.2326
• Main Authors: Hryhorowicz, Szymon, Kaczmarek-Ryś, Marta, Lis-Tanaś, Emilia, Porowski, Jakub, Szuman, Marcin, Grot, Natalia, Kryszczyńska, Alicja, Paszkowski, Jacek, Banasiewicz, Tomasz, Pławski, Andrzej
• Format: Article
• Language: English
• Subjects: Adenomatous Polyposis Coli - genetics; Adenomatous Polyposis Coli - pathology; Breast cancer; Colorectal cancer; Colorectal carcinoma; Colorectal Neoplasms - diagnosis; Colorectal Neoplasms - genetics; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; Colorectal Neoplasms, Hereditary Nonpolyposis - pathology; Cowden syndrome; Diagnosis; Familial adenomatous polyposis; Family medical history; Genetic aspects; Genetic Predisposition to Disease; Genetic susceptibility; Humans; Juvenile polyposis syndrome; Kinases; Medical research; Medicine, Experimental; Mutation; Neoplastic Syndromes, Hereditary - genetics; Review; Risk factors; Tumors
• ISSN: 2073-4425; 2073-4425
• 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.