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Case Report: Clinical impact of BRCA1 and BRIP1 vs. BRCA1 and BRCA2 germline ...

Zheng(L),Zhu(Q),Zhang(F),Qiu(H),Qin(L),Yan... Front Oncol 2025-00-00

...BRCA2 GDH. The BRCA1/BRIP1 GDH patient is a 46-year-old female diagnosed with advanced ovarian adenocarcinoma at clinica...

Defining Lifetime Risk Thresholds for Breast Cancer Surgical Prevention.

Wei(X),Mansour(L),Oxley(S),Fierheller(CT),... JAMA Oncol 2025-07-24

...BRCA2/PALB2 pathogenic variants. The precise BC risk threshold for offering risk-reducing mastectomy (RRM) for BC preven...

Successful treatment of advanced Birt-Hogg-Dubé syndrome-associated renal cel...

Yi(L),Li(C),Xu(D),Xu(L) World J Surg Oncol 2025-07-24

...BRCA2 mutations. Based on these findings, second-line therapy with anlotinib combined with toripalimab was initiated, de...

Genetic testing for BRCA1/2 variants in Northern African women with ovarian a...

Shohdy(KS),Kassem(L),Elnahas(T),Barsoum(EM... ESMO Open 2025-08-00

...BRCA2 PVs, but not BRCA1 PVs, were breast or ovarian lineage-unique. We developed a limited-resource conscious framework...

NSUN5 Mediates Resistance to Doxorubicin via Up-regulation of DNA Damage Repa...

Xu(Y),Qin(C),Zhang(M),Wu(Q),Li(Z),Mo(H),Ch... Am J Pathol 2025-10-00

...BRCA2 and the BRCA1-interacting helicase 1 (BRIP1), and interacted with these proteins to prevent cell death in response...

Epidemiology of Renal Cancer: Incidence, Mortality, Survival, Genetic Predisp...

Larcher(A),Campi(R),Bex(A),Bray(F),Bukavin... Eur Urol 2025-10-00

...BRCA2, ATM, and APC, predispose to RC. Nonmodifiable risk factors include sex, geography, ethnicity/ancestry, and family...

BRCA-CN: a blockchain-based framework to support public variant databases sha...

Qu(S),Liu(R),Li(S),Huang(C),Zhang(Y),Gao(X... Hum Genet 2025-08-00

...BRCA2: 585), completing consensus reviews for 607 sites with 462 achieving definitive interpretations. Comparison with C...

Mechanisms of Resistance to PARPi in Pancreatic Ductal Adenocarcinoma.

Stoof(J),Andrieu(C),O'Connell(F),O'Sulliva... J Cell Mol Med 2025-08-00

...BRCA2-mutant PDAC cells and identify potential therapeutic targets to modulate this resistance. We developed olaparib- a...

A Pilot Meta-Research on Evolving Evidence Behind Genetic Variant (Re)Classif...

Ma(H),Xu(Z),Chung(W),Weng(C),Peng(Y) Stud Health Technol Inform 2025-08-07

...BRCA2 genes. By analyzing 162 unique cited publications supporting VUS reclassifications, we examined the accuracy, comp...

A case report of advanced small intestinal stromal tumor with KIT gene mutati...

Cui(S),Fan(L),Bai(Y),Sun(X),Cai(Y),Dai(J),... Front Oncol 2025-00-00

...BRCA2), a combination therapy of fluzoparib, pamiparib, and ripretinib was administered, stabilizing the patient's condi...

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