This Web-page provides some information about inherited breast cancer, gives the list of the BRCA genes mutations found in Russia. It aims to inform physicians, including geneticists, oncologists and gynaecologists, as well as all interested in problems of breast cancer, including breast cancer patients and their relatives, about the current state of diagnostics, prophylactics and treatment of inherited breast cancer.

  Genetic predisposition to breast cancer and ovary cancer
  What mutations of BRCA genes are found in Russia? (for specialists)
  Who needs testing for inherited BRCA mutations?
  What is the procedure of genetic testing for mutations in BRCA genes?
  What does the person with genetic predisposition to breast cancer have to do?
  St.Petersburg working group on familial breast cancer
 

Genetic predisposition to breast cancer and ovary cancer

Breast cancer is the most common among all types of cancer. According to statistics breast cancer is by importance the second cause of mortality in women after the cardiovascular diseases. Breast cancer affects one woman out of nine in the world during life span. Approximately 10% of all breast cancer cases are due to inherited mutations. You can find much more information about the inherited breast cancer in English on pages of Online Mendelian Inheritance in Man (OMIM #114480).

It is clearly demonstrated today that inherited mutations in two genes BRCA1 (OMIM *113705) and BRCA2 (OMIM*600185) are the common cause of familial breast cancer and familial ovary cancer. Both BRCA1 and BRCA2 genes are cloned and rather well characterized.

All the relatives in the family bearing the same defects of the BRCA gene are at high risk of the cancer development. According to some estimates the exact risk of cancer development in BRCA gene mutation carriers may be as high as 90% during the life span. More important, that the relative risk of tumour development in mutation carriers at young age (before 42 years old) exceeds 10 times the overall population risk of breast cancer. In many families with BRCA gene mutation both cases of breast cancer and ovarian cancer may be found.

Currently, the intensive search for mutations in BRCA genes predisposing to breast and ovarian cancer is conducted in many countries including Russia. Identification of mutations has the serious consequences for mutation carriers and helps them and their relatives to avoid the development of tumours.

The investigations of inherited breast cancer genetics in St. Petersburg and creation of this Web page are supported by the Russian Fund for Basic Research Grant No. 01-04-49627.