Abstract:
Ten million new cases of a cancer and more than 6,2 million death from diseases of
this group are registered annually in the world. From 5 to 40% of malignant new growths
of all anatomic localizations have a hereditary etiology, and this percent increases in
connection with growth of the general incidence.
The syndrome of hereditary breast cancer (breast cancer) and ovarian cancer (OC)
makes a significant contribution to oncological morbidity: it accounts for 5-7% of all cases
of breast cancer and more than 10-15% of OC. Mutations in the classical genes of family
breast cancer / BRCA1 and BRCA2 occur in about 20-30% of pedigrees.
Hereditary BC and OC are characterized by an autosomal dominant type of inheritance
with high (incomplete) penetrance, early age of appearance and pronounced genotypic
and phenotypic heterogeneity. Genetic testing is performed as a part of genetic
counselling. The main inclusion criteria are multiple affected family members with breast/
ovarian cancer, breast cancer at young age (under 35–50 years), ovarian cancer at any
age, male breast cancer, morphological features of breast cancer (triple-negative, medullar
tumors), ethnicity (Jewish ancestry).
