Hereditary breast cancer: genetic etiology and current possibilities of prevention and surgical treatment

Authors: Alena Puchmajerová 1,3;  Jannis Tornikidis 2;  Lubor Mrňa 2;  Markéta Havlovicová 1;  Markéta Vlčková 1;  Jana Chrudimská 1;  Milan Macek jr. 1;  Jiří Hoch 2
Authors‘ workplace: Ústav biologie a lékařské genetiky 2. LF UK a FN Motol, Praha 1;  Chirurgická klinika 2. LF UK a FN Motol, Praha 2;  GENNET, s. r. o., Praha 3
Published in: Čas. Lék. čes. 2018; 157: 90-95
Category: Review Article


Cancer is the second most common cause of death in our population just after cardiovascular diseases, since each third individual will become affected by it during their lifetime. Breast cancer is the most common malignancy in women. The lifetime cumulative risk of breast cancer in women under the age of 75 is around 8 % according to Czech statistics. In 70–75 % of all individuals sporadic breast carcinomas are found, with 5–10 % of all women suffer from the hereditary breast and ovarian cancer (HBOC) syndrome.

Radical, bilateral, removal of the mammary gland is the most effective prevention of breast cancer in BRCA positive women. We present a summary of 37 BRCA positive Czech patients who underwent prophylactic bilateral mastectomy and whose mean age was 46.5 years. Surgical solution is currently the only effective therapeutic way to prevent breast cancer in BRCA positive women with high genetic risk. The cosmetic consequences of this radical surgery can be solved through many reconstruction tasks.

breast cancer, inheritance, BRCA1, BRCA2, TP53, surgical solutions


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