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The SeqSplice multiplexed minigene splicing assay for characterization and qu...

Canson(DM),Parsons(MT),Moir-Meyer(G),Dumen... Genome Res 2025-09-02

BRCA1 and BRCA2 germline variant classification is vital for clinical management of families with hereditary breast and ...

Prevalence of germline pathogenic variants in 779 patients with metastatic pr...

Vlaming(M),Koole(W),van Moorselaar(RJA),Bl... BJU Int 2025-12-00

...BRCA2, ATM, CHEK2 and PALB2 was offered to patients with mPCa. We assessed the prevalence of gPVs and compared it to a r...

Stereotactic radiosurgery for brain metastases from extra-renal clear cell ca...

Harary(PM),Hori(YS),Kattaa(AH),Lam(FC),Abu... J Clin Neurosci 2025-11-00

...BRCA2 (p.K3326*). Our case series indicates that SRS may be an effective management option for erCCC BM, demonstrating h...

Effect of Breast Surgery on Quality of Life in BRCA Mutation Carriers With In...

Mahiou(K),Bonneau(C),Coutant(C),Martin(AL)... Clin Breast Cancer 2025-12-00

...BRCA2) by age 80. Surgical management in this population is crucial, as it directly impacts quality of life (QoL). Howev...

Genetic investigation of a Tunisian family with Lynch syndrome: a case report...

Abdelmaksoud-Dammak(R),Ammous-Boukhris(N),... Front Oncol None

...BRCA2 variant (c.1813delA, p.Ile605TyrTer9), which provides a potential target for personalized therapy. This case repor...

Liver fibrosis in biliary atresia: identification of the key gene EDIL3 via i...

Kong(M),Jia(J),Liu(C),Liu(H),Zhang(S) Front Med (Lausanne) None

...BRCA2, BUB1B, HSP90AA1, PLK4, and EDIL3), with EDIL3 showing the greatest increase in BA. EDIL3 is located on chromosome...

Universal vs. ASCO guidelines-based germline genetic testing for newly diagno...

Abdel-Razeq(H),Tamimi(F),Abdel-Razeq(S),Sh... Oncol Rev None

...BRCA2, represents a critical tool for precision oncology, enabling individualized risk stratification and the developmen...

Leveraging Real-World Data From a Clinicogenomic Database Addresses the Treat...

Ciniselli(CM),Conca(E),Bartoletti(M),Colom... JCO Precis Oncol 2025-09-00

...BRCA2 (6.5%) variants, CGP revealed further potentially actionable alterations (amplifications and/or mutations) in CCNE...

Proteogenomic Biomarker Profiling for Predicting Radiolabeled Immunotherapy R...

Yan(B),Gao(Y),Zou(Y),Zhao(L),Li(Z) Cancer Biother Radiopharm 2025-08-29

...BRCA2], ataxia-telangiectasia mutated [ATM]), androgen receptor (AR) signaling regulators, and metabolic enzymes (ATP ci...

Prospective characterization of germline variants in patients with gliomas an...

Nandakumar(S),Mehine(M),Kemel(Y),Bandlamud... Acta Neuropathol 2025-09-12

...BRCA2 (n = 11; 0.5%), TP53 (n = 8; 0.4%), NF1 (n = 8; 0.4%), CHEK2 (n = 21, 0.9% excluding common variant I157T), and th...

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