1. The Role of Genetic Mutations in the Prevention of Malignant Tumours in a Healthy Population (A Review)
- Author
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O. N. Lipatov and K. T. Akhmetgareeva
- Subjects
Oncology ,medicine.medical_specialty ,RD1-811 ,Genetic counseling ,malignant neoplasms ,genetic testing ,Familial adenomatous polyposis ,prevention ,Internal medicine ,medicine ,Genetic predisposition ,ret genes ,skin and connective tissue diseases ,Multiple endocrine neoplasia ,RC254-282 ,Genetic testing ,medicine.diagnostic_test ,tp53 genes ,business.industry ,mutagenicity tests ,egfr genes ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Cancer ,General Medicine ,medicine.disease ,Lynch syndrome ,genetic susceptibility to disease ,brca 2 genes ,microsatellite instability ,Surgery ,business ,Ovarian cancer ,brca1 genes - Abstract
The prevention of malignant neoplasms in a healthy population is a priority task of national healthcare systems. Population screening and genetic counselling programmes allow identification of not only precancerous conditions, but also a genetic susceptibility to tumour diseases. Most hereditary cancers are passed on following an autosomal dominant pattern. Timely screening in healthy individuals, who may be potential carriers of mutated genes, facilitates the development of personalized preventive measures. The history of breast and/or ovarian cancer in close relatives is an important factor in early detection of genetic mutations in healthy patients, both women and men. The history of breast, ovarian or prostate cancer in close relatives increases significantly the chances of detecting a germinal mutation in the BRCA1 and BRCA2 genes in a proband. Genes associated with an increased risk of developing pancreatic cancer are BRCA1, BRCA2, CDKN2A, PALB2, PRSS1 and STK11. The most common syndromes of genetic mutations increasing the risk of cancer development include hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, Peutz—Jeghers syndrome and LeeFraumeni syndrome, multiple endocrine neoplasia syndrome.
- Published
- 2021
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