Genetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkey.

PURPOSE: Pathogenic/likely pathogenic (P/LP) germline variations in BRCA1 and BRCA2 genes are responsible for the majority of hereditary breast and ovarian cancers. This study presents the BRCA1/BRCA2 sequencing and deletion duplication analyses results of of 493 participants (485 women, 8 men) selected based on the National Comprehensive Cancer Network (NCCN) guidelines. METHODS: Next generation sequencing (NGS) and multiplex ligation-dependent probe amplification methods (MLPA) were used to define germline BRCA1/BRCA2 positivity. RESULTS: Overall, the P/LP frequency of the participants was 17.8%. Five of the likely pathogenic variants were novel. The 5266dupC pathogenic variation, which is a founder mutation in the Ashkenazi Jewish population, was the most common variation among the patients, with a frequency of 5.47%. The pathogenic/likely pathogenic variation frequency was significantly higher (p=0.01) among clinically diagnosed familial cancer patisents than those participants without personal history of cancer but enrolled for BRCA1 testing due to familial risk. BRCA1/BRCA mutation positivity was significantly higher (p=0.000) among those who had at least one first- or second-degree relative with breast/ovarian cancer from patients who had no family history. BRCA1/BRCA2 mutation positivity was 69.23% between the patients who had personal history of both breast and ovarian cancer. CONCLUSION: Based on our findings, we suggest that sequencing all of the coding regions of the BRCA1/BRCA2 genes using NGS is a feasible approach for individuals who are at risk of developing BRCA-related cancer according to NCCN guidelines. The 5266dupC pathogenic variation, as the most common pathogenic variation in the Trakya region of Turkey, should be included if a targeted mutatin screening is planned.

Effects of intra-abdominal pressure on liver function assessed with the LiMON in critically ill patients.

BACKGROUND: Intra-abdominal pressure (IAP) and intra-abdominal hypertension (IAH) are associated with significant morbidity and mortality in critically ill patients. Our aim was to assess the effects of IAH on liver function using the noninvasive liver function monitoring system LiMON and to assess the prognostic value of IAP in critically ill patients. METHODS: We conducted a retrospective analysis of critically ill patients who were treated in the intensive care unit (ICU). The IAP and indocyanine green plasma disappearance rate (ICG-PDR) measurements were made within 24 hours after admission to the ICU and repeated 12 hours later. Intra-abdominal pressure was measured via a Foley bladder catheter, and ICG elimination tests were conducted concurrently using the LiMON. RESULTS: We included 30 critically ill patients (17 women and 13 men aged 28-89 yr) in our analysis. Statistical analysis showed that the baseline IAP values were significantly higher among nonsurvivors than survivors (19.38 [standard deviation; SD 2.08] v. 13.07 [SD 0.99]). The twelfth-hour IAP values were higher than baseline measurements among nonsurvivors (21.50 [SD 1.96]) and lower than baseline measurements among survivors (11.71 [SD 1.54]); the difference between groups was significant (p < 0.001). The baseline ICG-PDR values were significantly lower among nonsurvivors than survivors (10.86 [SD 3.35] v. 24.51 [SD 6.78]), and the twelfth-hour ICGPDR values were decreased in all groups; the difference between groups was significant (p < 0.001). CONCLUSION: Our results suggest that measurement of ICG-PDR with the LiMON is a good predictor of the effects of IAP on liver function and, thus, can be recommended for the evaluation of critically ill patients.