BRCA1 negative

Where existing NGS data for cancer susceptibility genes is stored to diagnostic standard in UK laboratories, this study suggests it is cost-effective to analyse, report and clinically manage patients and relatives by extended analysis to an 8-gene panel compared to the historical genetic testing.

BRCA1 and BRCA2 methylation was significant and correlated with decreased survival in patients with operable pancreatic cancer. A larger cohort of patients is required to further explore the potential of these findings as well as to investigate whether BRCA1/2 methylation in plasma could serve as a potential prognostic biomarker in pancreatic cancer.

Also in this series, STIC is associated with an abnormal p53 pattern in fallopian tubes of high-grade EOCs. In summary, TP53 aberrations are the most frequent and early molecular events in EOC carcinogenesis independently from BRCA mutation status.

P1/2, N=37, Active, not recruiting, Kari Wisinski | Trial completion date: Dec 2023 --> Mar 2024 | Trial primary completion date: Dec 2023 --> Mar 2024

Our findings show the utility of the BRCA1/ID4 ratio in predicting neoadjuvant therapy response, which needs further evaluation in larger cohorts with long-term outcomes.

Women with MS have lower all-cause survival after breast cancer diagnosis than women without MS. Hence it is important to identify any risk factors or therapies that might be associated with increased risk of cancer.

Although this study did not meet its primary endpoint, there were 2 TNBC patients without a gBRCA1/2 mutation who achieved a partial response to this non-chemotherapy regimen. Future biomarker testing may help elucidate these findings and possible predictors of response.

The completion of multigene panel testing did not lead to a significant increase in MICRA or CWS scores. Key limitations of this study include a small sample size and an all Caucasian population.

In immunocytochemical analysis, tumor cells were positive for calretinin, podoplanin, epithelial membrane antigen, and methylthioadenosine phosphorylase; tumor cells were negative for BRCA1-associated protein 1, CD68, and desmin. The intracytoplasmic vacuoles were positive for adipophilin expression.

Our data show that abemaciclib and pembrolizumab were quickly implemented into routine care. Olaparib is used for pts with BRCA1/2 mutated tumors, but only few BRCA1/2 tests were documented so far. Future analysis will show whether BRCA1/2 testing increases, now that olaparib has been approved.

Figure: Figure 1a/1b Liver core biopsy H&E 20X objective, blue arrows revealing clusters of pleomorphic tumor cells. 1c: Liver Core biopsy with CK7 immunohistochemical stain 10X objective, a blue arrow indicating presence of tumor cells 1d: cross-sectional imaging of MRI abdomen/pelvis with and without contrast demonstrating normal signal and morphology, no suspicious lesions are seen.

P1/2, N=37, Active, not recruiting, Kari Wisinski | Recruiting --> Active, not recruiting