Detekce a výskyt mutací genu BRCA 1u pacientek s karcinomem prsu a ovaria

Detection and Incidence of Mutations of BRCA 1 Genein Patients with Cancer of the Breast and Ovary

Objective:
The article presents a review of basic information on incidence and detection of BRCA1 and BRCA 2 genes mutations.Results of investigation in a group of women with ovarian and breast cancer are presented.Design: Retrospective clinical-laboratory study and review.Setting: Department of Gynaecology and Obstetrics, 1st Medical Faculty of Charles University,Prague, Apolinářská 18, Czech Republic.Material and Methods: Investigated group consisted of 16 persons – 12 patients with ovarian orbreast cancer and 4 healthy relatives of a woman – breast cancer patient and a carrier of BRCA 1gene mutation.Protein truncation test (PTT) was performed in order to detect BRCA 1 gene mutation. This testdetects mutations leading to premature termination of protein synthesis. Truncated proteins areeasily discriminated from full size.Results: Three BRCA 1 gene alterations were identified in the investigated group of womensuffering from ovarian or breast cancer.One asymptomatic person – carrier of BRCA 1 gene mutation – was identified in this study. Shewas daughter of a woman, a carrier of BRCA 1 gene mutation, with early onset of breast cancerand positive family history.Conclusions: BRCA 1 and BRCA 2 gene mutations are of particular importance in the increasingrisk of ovarian cancer and early onset of breast cancer as well as some other malignancies.Genetic testing and counselling including investigation of some other genetic and environmentalfactors, related to cancer risk, may be of clinical significance in patients with increased risk ofcertain malignancies.

Key words:
ovarian cancer, breast cancer, BRCA 1, BRCA 2, genetic testing