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An immune stratification reveals a subset of PD-1/LAG-3 double-positive triple-negative breast cancers 免疫分层揭示了PD-1/LAG-3双阳性三阴性乳腺癌的一个亚群
IF 7.4 1区 医学 Q1 ONCOLOGY Pub Date : 2016-12-01 DOI: 10.1186/s13058-016-0783-4
G. Bottai, Carlotta Raschioni, A. Losurdo, L. di Tommaso, C. Tinterri, R. Torrisi, J. Reis-Filho, M. Roncalli, C. Sotiriou, A. Santoro, A. Mantovani, S. Loi, L. Santarpia
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引用次数: 89
Safety and efficacy of vinorelbine in combination with pertuzumab and trastuzumab for first-line treatment of patients with HER2-positive locally advanced or metastatic breast cancer: VELVET Cohort 1 final results 长春瑞滨联合帕妥珠单抗和曲妥珠单抗一线治疗her2阳性局部晚期或转移性乳腺癌患者的安全性和有效性:VELVET队列1的最终结果
IF 7.4 1区 医学 Q1 ONCOLOGY Pub Date : 2016-12-01 DOI: 10.1186/s13058-016-0773-6
E. Perez, J. López-Vega, T. Petit, C. Zamagni, V. Easton, Julia Kamber, E. Restuccia, M. Andersson
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引用次数: 63
Accurate prediction of response to endocrine therapy in breast cancer patients: current and future biomarkers 准确预测乳腺癌患者对内分泌治疗的反应:当前和未来的生物标志物
IF 7.4 1区 医学 Q1 ONCOLOGY Pub Date : 2016-12-01 DOI: 10.1186/s13058-016-0779-0
C. Selli, J. Dixon, A. Sims
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引用次数: 0
MCL-1 inhibition provides a new way to suppress breast cancer metastasis and increase sensitivity to dasatinib MCL-1抑制为抑制乳腺癌转移和提高对达沙替尼的敏感性提供了新的途径
IF 7.4 1区 医学 Q1 ONCOLOGY Pub Date : 2016-12-01 DOI: 10.1186/s13058-016-0781-6
Adelaide I J Young, Andrew M. K. Law, Lesley E Castillo, Sabrina Chong, H. Cullen, M. Koehler, S. Herzog, T. Brummer, Erinna F. Lee, W. Fairlie, M. Lucas, D. Herrmann, A. Allam, P. Timpson, D. Watkins, E. Millar, S. O'toole, D. Gallego-Ortega, C. Ormandy, S. Oakes
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引用次数: 58
Complexity galore: 3D cultures, biomechanics and systems medicine at the eighth ENBDC workshop “Methods in Mammary Gland Development and Cancer” 复杂性丰富:第八届ENBDC研讨会“乳腺发育和癌症的方法”上的3D培养,生物力学和系统医学
IF 7.4 1区 医学 Q1 ONCOLOGY Pub Date : 2016-11-25 DOI: 10.1186/s13058-016-0777-2
Bethan Lloyd-Lewis, A. A. A. van de Moosdijk, M. Bentires-Alj, R. Clarke, Renée van Amerongen
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引用次数: 1
The complexities and caveats of lineage tracing in the mammary gland 乳腺谱系追踪的复杂性和注意事项
IF 7.4 1区 医学 Q1 ONCOLOGY Pub Date : 2016-11-25 DOI: 10.1186/s13058-016-0774-5
Anne C. Rios, Nai-yang Fu, Joseph Cursons, G. Lindeman, J. Visvader
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引用次数: 1
Erratum to: JMJD2A contributes to breast cancer progression through transcriptional repression of the tumor suppressor ARHI JMJD2A通过对肿瘤抑制因子ARHI的转录抑制促进乳腺癌的进展
IF 7.4 1区 医学 Q1 ONCOLOGY Pub Date : 2016-11-21 DOI: 10.1186/s13058-016-0776-3
Li-Liang Li, Ai-min Xue, Bei-xu Li, Yi-wen Shen, Yuhua Li, Cheng-Liang Luo, Mingchun Zhang, Jieqing Jiang, Zu-de Xu, Jian-hui Xie, Zi-qin Zhao
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引用次数: 2
ADA3 regulates normal and tumor mammary epithelial cell proliferation through c-MYC ADA3通过c-MYC调控正常和肿瘤乳腺上皮细胞的增殖
IF 7.4 1区 医学 Q1 ONCOLOGY Pub Date : 2016-11-16 DOI: 10.1186/s13058-016-0770-9
N. Griffin, G. Sharma, Xiangshan Zhao, S. Mirza, Shashank Srivastava, B. Dave, M. Aleskandarany, E. Rakha, Shakur Mohibi, H. Band, V. Band
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引用次数: 9
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. 在 32 295 位女性的国际样本中发现 BRCA1 和 BRCA2 的有害突变遗传。
IF 7.4 1区 医学 Q1 ONCOLOGY Pub Date : 2016-11-11 DOI: 10.1186/s13058-016-0768-3
Timothy R Rebbeck, Tara M Friebel, Nandita Mitra, Fei Wan, Stephanie Chen, Irene L Andrulis, Paraskevi Apostolou, Norbert Arnold, Banu K Arun, Daniel Barrowdale, Javier Benitez, Raanan Berger, Pascaline Berthet, Ake Borg, Saundra S Buys, Trinidad Caldes, Jonathan Carter, Jocelyne Chiquette, Kathleen B M Claes, Fergus J Couch, Cezary Cybulski, Mary B Daly, Miguel de la Hoya, Orland Diez, Susan M Domchek, Katherine L Nathanson, Katarzyna Durda, Steve Ellis, D Gareth Evans, Lenka Foretova, Eitan Friedman, Debra Frost, Patricia A Ganz, Judy Garber, Gord Glendon, Andrew K Godwin, Mark H Greene, Jacek Gronwald, Eric Hahnen, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Evgeny N Imyanitov, Claudine Isaacs, Anna Jakubowska, Ramunas Janavicius, Katarzyna Jaworska-Bieniek, Esther M John, Beth Y Karlan, Bella Kaufman, KConFab Investigators, Ava Kwong, Yael Laitman, Christine Lasset, Conxi Lazaro, Jenny Lester, Niklas Loman, Jan Lubinski, Siranoush Manoukian, Gillian Mitchell, Marco Montagna, Susan L Neuhausen, Heli Nevanlinna, Dieter Niederacher, Robert L Nussbaum, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Sue Kyung Park, Marion Piedmonte, Paolo Radice, Christine Rappaport-Fuerhauser, Matti A Rookus, Caroline Seynaeve, Jacques Simard, Christian F Singer, Penny Soucy, Melissa Southey, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Csilla I Szabo, Mariella Tancredi, Manuel R Teixeira, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Laima Tihomirova, Marc Tischkowitz, Amanda Ewart Toland, Aleksandra Toloczko-Grabarek, Nadine Tung, Elizabeth J van Rensburg, Danylo Villano, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N Weitzel, Jamal Zidan, Kristin K Zorn, Lesley McGuffog, Douglas Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Susan J Ramus

Background: Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood.

Methods: From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 "controls" carried a BRCA1 mutation found in the TH "case". Matched SH2 "controls" carried a BRCA2 mutation found in the TH "case". After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2.

Results: The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC.

Conclusions: Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2.

背景:大多数 BRCA1 或 BRCA2 基因突变携带者只遗传了一个(杂合子)基因突变。同时遗传了 BRCA1 和 BRCA2 中有害突变的杂合子(Transheterozygotes,TH)非常罕见,人们对杂合子的后果知之甚少:从 32,295 名女性 BRCA1/2 基因突变携带者中,我们发现了 93 例 TH(0.3%)。"病例 "定义为 TH,"对照 "为 BRCA1(SH1)或 BRCA2(SH2)的单一突变。匹配的 SH1 "对照 "携带在 TH "病例 "中发现的 BRCA1 突变。匹配的 SH2 "对照 "携带在 TH "病例 "中发现的 BRCA2 突变。将 TH 携带者与 SH1 或 SH2 匹配后,91 例 TH 与 9316 例 SH1 匹配,89 例 TH 与 3370 例 SH2 匹配:大多数 TH(45.2%)涉及三种常见的犹太突变。与 SH1 和 SH2 妇女相比,TH 妇女更有可能被诊断出患有乳腺癌(BC;P = 0.002)。与 SH2(p = 0.017)相比,TH 妇女更有可能被诊断出患有卵巢癌(OC),而 SH1 妇女则没有这种可能。TH与SH1的BC诊断年龄相同(p = 0.231),但TH比SH2平均年轻4.5岁(p 结论:TH与SH1的BC诊断年龄相同(p = 0.231),但TH比SH2平均年轻4.5岁:我们的观察结果表明,TH 的临床表型与 SH1 相似。然而,TH 乳腺肿瘤标记物特征在表型上介于 SH1 和 SH2 之间。
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引用次数: 0
The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk PALB2 p.l u939trp突变与乳腺癌风险无关
IF 7.4 1区 医学 Q1 ONCOLOGY Pub Date : 2016-11-09 DOI: 10.1186/s13058-016-0762-9
Irene Catucci, P. Radice, R. Milne, F. Couch, M. Southey, P. Peterlongo
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引用次数: 11
期刊
Breast Cancer Research
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