Algorithm for identification of individuals with hereditary predisposition to breast cancer and other breast cancer-associated forms of malignant neoplasms
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KeywordsBreast Cancer Breast Cancer Ovarian Cancer Pancreatic Cancer Colon Cancer
Hereditary cancers make up 5–15% of all forms of breast cancer (BC). BRCA1/2 mutations determine about 50% of hereditary BC forms and other pathologic BRCA1/2 genotype-associated forms of malignant neoplasms. Meta-analysis has demonstrated a high probability for development of ovarian cancer, gastric cancer, colon cancer, endometrial cancer, pancreatic cancer, skin melanoma, urinary bladder cancer, and head and neck tumours with pathologic BRCA1/2 genotype, which should be taken into consideration in medicogenetic consulting and monitoring of patient carriers.
To develop and introduce into clinical practice a diagnostic algorithm targeted at active identification of hereditary BC and other BRCA1/2 mutation-associated forms of malignant neoplasms.
Questionnaires for patients, and molecular genetic blood analysis.
Questionnaires for patients with BC, ovarian cancer or colon cancer reveal individuals with cancer-burdened heredity, whose blood is analysed for the presence of germinal mutations. Relatives of BRCA1/2 mutation-positive patients are subject to examination for both germinal mutation-carrying and tumour markers. A cohort is formed for targeted prophylactic medical examinations.
(1) An original method is developed for active identification of hereditary BC and other BC-associated malignant neoplasms. (2) The proposed method makes it possible to conduct targeted and efficient prophylatic medical examinations of germinal mutation carriers.