Identification of major mutation in genes of hereditary predisposition to breast cancer in patients of the Republic of Crimea

Автор: Kamysheva A.V., Fomochkina I.I., Kubyshkin A.V., Aliev K.A.

Журнал: Cardiometry @cardiometry

Статья в выпуске: 33, 2024 года.

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The most common oncopathology among the female population is breast cancer (BC). Hereditary breast cancer is characterized by an autosomal dominant type of inheritance with high penetrance, early age of the onset and pronounced genotypic and phenotypic heterogeneity.

Hereditary breast cancer, brca1, brca2, chek2, palb2, occurrence rate, increased risk of cancer

Короткий адрес: https://sciup.org/148329782

IDR: 148329782   |   DOI: 10.18137/cardiometry.2024.33.conf.16

Список литературы Identification of major mutation in genes of hereditary predisposition to breast cancer in patients of the Republic of Crimea

  • OncaBRCA. Available on: https://oncobrca.ru/.
  • Novikova EI, et al. Study of the influence of the genetic variant c.470T>C in the CHEK2 gene on the increased risk of breast cancer in the population of the Russian Federation. Advances in Molecular Oncology. 2021; 8:26-31. DOI: 10.17650/2313-805X-2021-8-1-26-31
  • Liu YA., et al. recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in chinese women. Hum Mutation. 2011;32(9):1000-1003. DOI: 10.1002/humu.21538
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