BRCA2 deletion

P=N/A, N=38, Recruiting, Assiut University

Single-cell analyses confirmed deletion rate differences in gBRCA1/2 vs. non-carrier tumors as well as cells engineered to harbor gBRCA1/2 . The centrality of deletion-associated chromosomal instability to tumorigenesis shapes interpretation of the somatic evolution of non-malignant tissue and guides strategies for precision prevention and early detection.

The spectrum of pathogenic variants in the BRCA1/2 genes in La Rioja is similar to that in other Spanish regions, with some unique characteristics. The pathogenic c.6024dupG variant in the BRCA2 gene was detected in a large number of families and could have a founding effect in the Ebro riverside areas in the regions of La Rioja and Navarra.

Our study aims to systematically evaluate how Chr13q deletion impacts the progression of PC and its susceptibility to treatment. We anticipate that our study will establish a solid foundation of knowledge that can be used to identify aggressive primary PC and the related risk of progressing to lethal CRPC. This will help develop more effective treatments for patients with aggressive and lethal PC, particularly those with Chr13q..

The patient received docetaxel chemotherapy and pelvic radiotherapy. In a literature review, this case demonstrated the longest duration of effectiveness with olaparib alone without platinum-based chemotherapy. Additionally, the occurrence of relatively rare, fatal brain metastases in prostate cancer after a long period of CR suggests the necessity of regular brain imaging examinations.

Background : The PREDIX HER2 trial (n=202) compared neoadjuvant docetaxel, trastuzumab, and pertuzumab (DHP) vs. trastuzumab emtansine (T-DM1) in HER2-positive breast cancer, resulting in similar pathologic complete response (pCR) rates. Conclusion : Using multiomics analysis in a randomized trial, we show that T-DM1 and standard dual HER2 blockade harbor strikingly distinctive biomarkers of response. Further validation in prospective biomarker-driven studies, integrated multimodal predictive models and studies with novel antibody-drug conjugates are warranted.

This tumor thus warrants careful consideration. Accurate diagnosis can greatly improve early diagnosis and treatment of these tumors.

These observations map the prevalence of candidate drivers of resistance across time in a clinical setting, information with implications for clinical management and trial design in HRD breast cancers.

P2; N=15 --> 0 | Recruiting --> Withdrawn

Of the 42 pts with a treatment recommendation, 23 pts (56%) have received an on-label treatment, 19 with a PARP inhibitor and 4 with pembrolizumab... In this prospective study, 38% of pts with mCRPC were identified to have variants with an on-label treatment recommendation, highlighting the value of comprehensive testing to identify a relatively high number of these pts. In pts with both cfDNA and tissue testing, cfDNA alone detected 68% of these pts, emphasizing the value of cfDNA as a complement or alternative to tissue testing. Repeat cfDNA testing in a cohort of pts detected a new on-label variant in almost half of the pts tested, emphasizing the potential value of serial testing with tumor progression.

Furthermore, the founder effect of c.1918C>T (BRCA1) and c.8251_8254del (ATM) was verified in the Murcian population, whereas exon 2 deletion (BRCA2) was proven to be a Spanish founder mutation. Our algorithm enabled us to prioritize potentially pathogenic VUS that required further testing to determine their clinical significance and potential role in HBOC.

Two pts each had homozygous deletions in ATM, BRCA2 and CHEK2; another had FGFR2 fusion (FGFR2-KIAA1598). Conclusions Comprehensive ctDNA NGS can identify ESR1 mutations along with co-alterations that may inform therapeutic decisions for patients with ABC in AME.