Nádorová onemocnění jsou po nemocech kardiovaskulárních druhou nejčastější příčinou úmrtí v naší populaci; v průběhu života jimi onemocní každý třetí jedinec. Karcinom prsu je nejčastějším zhoubným nádorem u žen. Celoživotní kumulativní riziko onemocnění karcinomem prsu u ženy do 75 let věku je v ČR kolem 8 %. V 70–75 % případů jde o sporadické karcinomy prsu, u 5–10 % žen je příčinou hereditární karcinom prsu v rámci některého ze syndromů dědičné nádorové predispozice. Radikální odstranění prsní žlázy je nejúčinnější prevencí vzniku nádoru prsu u BRCA-pozitivních žen s vysokým genetickým rizikem. Uvádíme 37 BRCA-pozitivních pacientek, které podstoupily profylaktickou bilaterální mastektomii a jejichž průměrný věk činil 46,5 roku. Kosmetické důsledky této radikální operace lze řešit řadou rekonstrukčních výkonů.

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.

• MeSH
• časná diagnóza MeSH
• dědičnost MeSH
• genetická predispozice k nemoci MeSH
• geny BRCA1 MeSH
• geny BRCA2 MeSH
• geny p53 MeSH
• lidé MeSH
• mutace MeSH
• nádory prsu * diagnostické zobrazování   genetika   chirurgie   MeSH
• profylaktická mastektomie metody   MeSH
• tumor supresorové geny MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• práce podpořená grantem MeSH
• přehledy MeSH

Follicle-stimulating hormone receptors (FSHRs) are almost exclusively expressed on granulosa cells, and FSH action is probably most clearly reflected in intrafollicular hormone milieu of antral follicles. Little is known about the possible effects of the common single nucleotide polymorphism (SNP) FSHR -29G > A (rs1394205) on hormonal conditions in humsan small antral follicles (hSAFs) obtained from women in the natural menstrual cycle. This study investigated the follicle fluid (FF) concentrations of anti-Müllerian hormone, estradiol, progesterone, androstenedione, and testosterone in hSAF in relation to the different genotypes of FSHR -29G > A. FF from 362 follicles was collected in 95 women undergoing fertility preservation, who did not suffer from a disease that directly affected ovarian function. The testosterone levels of the minor A/A genotype were significantly increased compared to the A/G and the G/G genotype. Furthermore, significantly reduced androstenedione levels were observed for the G/G genotype, as compared to the A/G genotype, while the other hormones did not show statistical significant differences. In conclusion, the androgen levels of hSAF were significantly elevated in the minor SNP genotype in the FSHR promoter polymorphism FSHR -29G > A.

Granulosa cell (GC) expressed androgen receptors (AR) and intrafollicular androgens are central to fertility. The transactivating domain of the AR contains a polymorphic CAG repeat sequence, which is linked to the transcriptional activity of AR and may influence the GC function. This study aims to evaluate the effects of the AR CAG repeat length on the intrafollicular hormone profiles, and the gene expression profiles of GC from human small antral follicles. In total, 190 small antral follicles (3-11 mm in diameter) were collected from 58 women undergoing ovarian cryopreservation for fertility preservation. The biallelic mean of the CAG repeat lengths were calculated for each woman, and grouped in three groups: Long CAG repeats (23-26 mean CAG); medium CAG repeats (20.5-22.5 mean CAG) and short CAG repeats (17.5-20.0 mean CAG). The following parameters were measured: follicle diameter, intrafollicular levels of Anti-Müllerian Hormone (AMH), progesterone, oestradiol, testosterone and androstenedione, and GC gene expression levels of FSHR, LHR, AR, CYP19A1, and AMH. The long CAG repeat lengths were associated with significantly decreased testosterone levels, as compared to medium CAG repeats (P = 0.05) and short CAG repeats (P = 0.003). Furthermore, in follicles 3-6 mm in diameter, the long CAG repeats were associated with significantly increased LHR and CYP19A1 gene expression levels compared to short CAG repeat lengths (P = 0.004 and P = 0.04 respectively), and significantly increased LHR expression compared to medium CAG repeat lengths (P = 0.03). In conclusion, long CAG repeat lengths in the AR were associated to significant attenuated levels of androgens and an increased conversion of testosterone into oestradiol, in human small antral follicles.

• MeSH
• androgenní receptory genetika   MeSH
• aromatasa genetika   MeSH
• dospělí MeSH
• expanze trinukleotidových repetic * MeSH
• folikulární tekutina cytologie   metabolismus   MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• pohlavní hormony genetika   metabolismus   MeSH
• receptory LH genetika   MeSH
• stanovení celkové genové exprese metody   MeSH
• testosteron metabolismus   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH