BRCA2相关文献与解析，生知库 | 链接生命科学的每一步

Risk-Reducing Bilateral Mastectomy and Mortality in Carriers of BRCA1 and BRCA2 Variants: A Systematic Review and Meta-Analysis

降低风险的双侧乳房切除术与BRCA1和BRCA2变异携带者的死亡率：系统评价和荟萃分析

doi:10.1001/jamasurg.2025.5929

O'Reilly, Cathal; McGarry, Jennifer L; Zaborowski, Alexandra M; Davey, Matthew G; Evoy, Denis; Rothwell, Jane; McCartan, Damian; Rutherford, Claire L; Boland, Michael R; Prichard, Ruth S

The DNA helicase HELQ promotes replication fork reversal in coordination with BRCA2- and FANCD2-mediated repair pathways

DNA解旋酶HELQ与BRCA2和FANCD2介导的修复途径协同作用，促进复制叉逆转。

期刊:Nucleic Acids Research

影响因子:13.1

doi:10.1093/nar/gkag332

Dunbayev, Yerkin; Chen, Yen-Ju; Sassi, Lorenzo; Lee, Eun A; Ra, Jae Sun; Choi, Moonjung; Mukherjee, Anirban; Vasquez, Karen M; Costanzo, Vincenzo; Chi, Peter; Takata, Kei-Ichi

Comparative analysis of microRNA expression in serum and plasma in patients screened for BRCA1 or BRCA2 mutations

对接受 BRCA1 或 BRCA2 突变筛查的患者血清和血浆中 microRNA 表达的比较分析

期刊:Biomarker Research

影响因子:11.5

doi:10.1186/s40364-025-00882-z

Smyczynska, Urszula; Rycerz, Aleksander; Kozlowska, Klaudia; Symecko, Heather; Brower, Jamie; Domchek, Susan M; Elias, Kevin; Konstantinopoulos, Panagiotis; Apostolidou, Sophia; Menon, Usha; Fendler, Wojciech; Chowdhury, Dipanjan

Integrating breast tumour homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification

整合乳腺肿瘤同源重组缺陷状态以辅助生殖系 BRCA1 和 BRCA2 变异分类

期刊:EBioMedicine

影响因子:10.8

doi:10.1016/j.ebiom.2026.106199

Fortuno, Cristina; Zhang, Jia; Koufariotis, Lambros T; Hollway, Georgina; Wood, Scott; Pearson, John V; Simpson, Peter T; Lakhani, Sunil R; McCart Reed, Amy E; Thorne, Heather; Mann, G Bruce; Skandarajah, Anita R; Devereux, Lisa; Zhao, Qihong; De Silva, Dilanka L; Lindeman, Geoffrey J; Waring, Paul; James, Paul A; Campbell, Ian; Spurdle, Amanda B; Waddell, Nicola

Surgical Outcomes After Risk-Reducing Mastectomy Among BRCA1 and BRCA2 Carriers

BRCA1和BRCA2基因携带者接受风险降低性乳房切除术后的手术结果

期刊:Jama Network Open

影响因子:9.7

doi:10.1001/jamanetworkopen.2026.2574

Wiberg, Rebecca; Hägglund, Signe; Numan Hellquist, Barbro; Rosén, Anna; Idahl, Annika; Mani, Maria; Bajalica-Lagercrantz, Svetlana; Ehrencrona, Hans; Karlsson, Per; Loman, Niklas; Sund, Malin

Repression of EGFR by new biguanide 4C potentiated ovarian cancer to PARP inhibitors through down-regulation of BRCA2 and Rad51

新型双胍类药物 4C 通过下调 BRCA2 和 Rad51 来抑制 EGFR，从而增强 PARP 抑制剂对卵巢癌的疗效。

期刊:Cell Death & Disease

影响因子:9.6

doi:10.1038/s41419-026-08556-w

Xiao, Di; Yao, Jia; Yang, Xin; Xie, Yijun; Zhou, Xiaochen; Li, Duo; Peng, Mei; Wang, Wei; Zou, Hui; Yang, Xiaoping

Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.

ATM、BRCA2、其他癌症易感基因和新的候选基因的种系变异与有肿瘤家族史或个人史的成年胶质瘤患者的胶质瘤风险有关。

期刊:Acta Neuropathologica

影响因子:9.3

doi:10.1007/s00401-025-02972-6

Brand Frank, Rose Lily S, Akbarzadeh Amir H, Weber Christine A M, Eckert Isabel, Schmidt Gunnar, Auber Bernd, FÃ¶rster Alisa, Beyer Ulrike, Geffers Robert, Bartels Stephan, Lalk Michael, Polemikos Manolis, Friese Michael, Sabel Michael, Schwenkenbecher Philipp, Kremer Paul, Nabavi Arya, Samii Amir, Lehmann Ulrich, Reifenberger Guido, Krauss Joachim K, Wiese Bettina, Hartmann Christian, Weber Ruthild G

BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types

BRCA1 和 BRCA2 致病性变异会增加四种不太常见的癌症的风险

期刊:ESMO Open

影响因子:8.3

doi:10.1016/j.esmoop.2026.106900

Sasagawa, H; Endo, M; Iwasaki, Y; Usui, Y; Koyanagi, Y N; Innella, G; Hadler, J; Parsons, M T; Numakura, K; Kamatani, Y; Murakami, Y; Matsuo, K; Matsuda, K; Spurdle, A B; Habuchi, T; Momozawa, Y

Risks of non-breast, non-ovarian cancers for BRCA1 and BRCA2 pathogenic variant carriers: a prospective cohort study

BRCA1和BRCA2致病性变异携带者罹患非乳腺癌、非卵巢癌的风险：一项前瞻性队列研究

期刊:BMC Medicine

影响因子:8.3

doi:10.1186/s12916-026-04753-8

Yang, Ruotong; MacInnis, Robert J; Milne, Roger L; Nguyen-Dumont, Tu; Maxwell, Whitney F; Genkinger, Jeanine M; Glendon, Gord; Ross, Eric A; Andrulis, Irene L; Colonna, Sarah V; Daly, Mary; John, Esther M; Kurian, Allison W; Terry, Mary Beth; Hopper, John L; Southey, Melissa C; Phillips, Kelly-Anne; Li, Shuai

BRCA1 and BRCA2 gene expression: p53- and cell cycle-dependent repression requires RB and DREAM

BRCA1 和 BRCA2 基因表达：p53 和细胞周期依赖性抑制需要 RB 和 DREAM

Risk-Reducing Bilateral Mastectomy and Mortality in Carriers of BRCA1 and BRCA2 Variants: A Systematic Review and Meta-Analysis

降低风险的双侧乳房切除术与BRCA1和BRCA2变异携带者的死亡率：系统评价和荟萃分析

The DNA helicase HELQ promotes replication fork reversal in coordination with BRCA2- and FANCD2-mediated repair pathways

DNA解旋酶HELQ与BRCA2和FANCD2介导的修复途径协同作用，促进复制叉逆转。

Comparative analysis of microRNA expression in serum and plasma in patients screened for BRCA1 or BRCA2 mutations

对接受 BRCA1 或 BRCA2 突变筛查的患者血清和血浆中 microRNA 表达的比较分析

Integrating breast tumour homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification

整合乳腺肿瘤同源重组缺陷状态以辅助生殖系 BRCA1 和 BRCA2 变异分类

Surgical Outcomes After Risk-Reducing Mastectomy Among BRCA1 and BRCA2 Carriers

BRCA1和BRCA2基因携带者接受风险降低性乳房切除术后的手术结果

Repression of EGFR by new biguanide 4C potentiated ovarian cancer to PARP inhibitors through down-regulation of BRCA2 and Rad51

新型双胍类药物 4C 通过下调 BRCA2 和 Rad51 来抑制 EGFR，从而增强 PARP 抑制剂对卵巢癌的疗效。

Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.

ATM、BRCA2、其他癌症易感基因和新的候选基因的种系变异与有肿瘤家族史或个人史的成年胶质瘤患者的胶质瘤风险有关。

BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types

BRCA1 和 BRCA2 致病性变异会增加四种不太常见的癌症的风险

Risks of non-breast, non-ovarian cancers for BRCA1 and BRCA2 pathogenic variant carriers: a prospective cohort study

BRCA1和BRCA2致病性变异携带者罹患非乳腺癌、非卵巢癌的风险：一项前瞻性队列研究