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GENE:

BRCA2 (Breast cancer 2, early onset)

i
Other names: BRCA2, BRCC2, FACD, FAD, FAD1, FANCD, FANCD1, Breast cancer 2, early onset
1d
Phase II Study of Adavosertib in Patients With Tumors Containing BRCA1 and BRCA2 Mutations: Results From the NCI-MATCH ECOG-ACRIN Cancer Research Group (EAY131) Subprotocol Z1I. (PubMed, JCO Precis Oncol)
In heavily pretreated, advanced solid tumor patients with PV in BRCA1/2, adavosertib treatment resulted in low ORR, and this trial did not meet the primary end point.
P2 data • Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
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BRCA2 mutation • BRCA1 mutation • BRCA mutation
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adavosertib (AZD1775)
1d
Histologic Spectrum of BRCA-Associated Pancreatic Ductal Adenocarcinoma : A Descriptive Morphologic Study. (PubMed, Hum Pathol)
BRCA-associated pancreatic ductal adenocarcinomas demonstrate recurrent morphologic patterns, including increased glandularity, stromal hyalinization, myxoid stromal change and architectural heterogeneity. These observations provide a framework for future comparative studies investigating morphologic correlates of homologous recombination deficiency in pancreatic cancer. Recognition of these patterns may support consideration of germline or somatic DNA-repair gene testing in appropriate clinical settings.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset) • DRD (DNA Repair Deficiency)
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BRCA2 mutation • BRCA1 mutation • HRD • DDR • BRCA mutation
2d
CRISPR/Cas in gynecologic cancers: A review of experimental and therapeutic applications. (PubMed, Indian J Cancer)
Similarly, in endometrial cancer, CRISPR tools have elucidated mechanisms of hormonal resistance and facilitated the development of in vivo models via somatic gene editing. This review highlights recent advances in the application of CRISPR/Cas technology to gynecologic malignancies, discussing its potential as both a therapeutic and research platform while acknowledging current limitations and translational hurdles.
Review • Journal • BRCA Biomarker • IO biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • DNMT1 (DNA methyltransferase 1)
2d
BRCA pathogenic variants and response in early TNBC patients treated with neoadjuvant pembrolizumab: outcomes of the BRCAPATH study. (PubMed, Breast Cancer)
BRCA PV, particularly BRCA1, were strongly associated with pCR in pembrolizumab-treated early TNBC. These findings should be considered hypothesis-generating and warrant confirmation in larger prospective cohorts.
Journal
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
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Keytruda (pembrolizumab)
2d
Prevalence of homologous recombination repair genes alterations in metastatic castration-resistant prostate cancer, a multicentric study. (PubMed, Fr J Urol)
In this study, testing contributivity was similar or higher that of other studies in the literature, and observed mutations prevalences were similar to that of other screenings of western populations. Harmonising per-centres protocols and enhancing molecular testing contributivity with the screening of circulating DNA samples and expanding its range by including non-BRCA HRR-related genes in all reference centres will enable more patients to be accurately treated by targeted therapies.
Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CDK12 (Cyclin dependent kinase 12) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2)
2d
Targeted Prostate Health Checks for prostate cancer in men at high risk: a feasibility pilot in primary and secondary care in North East London. (PubMed, BJGP Open)
Identification of men at high PCa risk is feasible using age and ethnicity primary care data, but FH coding is unreliable. Test-first invitations improved engagement. Disparities affecting Black men highlight the need for tailored outreach, and better coding of risk factors will facilitate risk-adapted screening.
Journal
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
2d
New P2 trial
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
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BRCA2 mutation • BRCA1 mutation • HRD
3d
Synthesis and In Vitro/In silico Evaluation of Novel 2‑Aryl-6-carboxamide-Substituted Benzoxazole Derivatives with Anticancer Effects and mTOR Inhibitory Potential. (PubMed, ACS Omega)
Cell cycle analysis revealed phase-specific arrest, further supporting the antiproliferative activity of the compound. Overall, COH-17 and COH-19 demonstrated potent anticancer effects through mTOR inhibition, induction of apoptosis, and cell cycle arrest, highlighting their potential as targeted therapeutic agents for breast cancer.
Preclinical • Journal • BRCA Biomarker • IO biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • BCL2 (B-cell CLL/lymphoma 2) • CASP3 (Caspase 3) • ANXA5 (Annexin A5)
3d
Ovarian Reserve and Planned Cryopreservation Outcomes in Physicians and Nonphysicians. (PubMed, O G Open)
After adjustment for age and race, physicians had significantly lower anti-müllerian hormone levels (average difference -0.38 [95% CI, -0.55 to -0.22]), but the median number of mature oocytes retrieved did not differ significantly. Therefore, planned oocyte or embryo cryopreservation among physicians could be considered for future family building.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
3d
A Case Report: A Rare Casr Mutation Associated with HER2-Positive Breast Cancer. (PubMed, Exp Oncol)
The patient underwent neoadjuvant chemothera- py, right-sided mastectomy, and trastuzumab therapy, achieving complete pathological regression (pCR) with no recur- rence after ten months of follow-up. Although the CASR p.Glu755Asp variant's pathogenic role is unproven, emerging evidence links CASR overexpression with hER2-positive breast cancers, promoting tumor progression via calcium- dependent signaling pathways (PI3K/AKt, MAPK). This case highlights the potential role of CASR as a low-penetrance susceptibility gene in breast cancer and supports further functional and genomic studies to clarify its clinical impact.
Journal • BRCA Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • CASR (Calcium Sensing Receptor)
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HER-2 positive • BRCA2 mutation • BRCA1 mutation • HER-2 overexpression • HER-2 mutation • PALB2 mutation • ER negative • CHEK2 mutation • HER-2 positive + HER-2 overexpression
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Herceptin (trastuzumab)
3d
PCSK9 rs562556 variant and survival in BRCA1 mutation carriers and mutation-negative familial breast cancer. (PubMed, NPJ Breast Cancer)
We found no significant association between PCSK9 rs562556 variant and breast cancer mortality or time to death following distant recurrence in either cohort. This finding does not support PCSK9 prognostic impact in breast cancer that may be modified by additional genetic or environmental factors.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9)
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BRCA1 mutation
3d
Impact of ataxia-telangiectasia mutated (ATM) loss on radiobiological and immune response to radium-223 in prostate cancer in vitro models. (PubMed, Clin Transl Radiat Oncol)
These findings demonstrate that ATM-deficiency enhances radiobiological response and amplifies immune activation to 223Ra, supporting further pre-clinical evaluation of ATM loss as a determinant of response and therapeutic target to optimise 223Ra based strategies for mCRPC.
Preclinical • Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CXCL10 (Chemokine (C-X-C motif) ligand 10) • STING (stimulator of interferon response cGAMP interactor 1) • TP53BP1 (Tumor Protein P53 Binding Protein 1) • IFIT2 (Interferon Induced Protein With Tetratricopeptide Repeats 2)
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BRCA2 mutation • BRCA1 mutation
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Xofigo (radium Ra-223 dichloride)