mutations in the tumor suppressor breast cancer susceptibility gene 1 brca1

... 2011 [2] The arrow has been added to indicate the introduction of the screening programme in 1988 1971 1975 1980 1985 1990 1995 2000 2005 2011 Year of death Mortality in women in the ... TABLES 14 ABBREVIATIONS 15 CHAPTER 1: INTRODUCTION 17 1.1 Breast cancer epidemiology, pathology and prognostic factors 18 1.1.1 Breast cancer incidence, mortality and survival 18 1.1.2 Breast ... inhibitors AIB1 Amplified in breast cancer 1 BRCA Breast Cancer genes CDK Cyclin dependent kinase CRLF1 Chemokine receptor-like factor 1 CXCL10 Chemokine CXC ligand 10 DAB 3,3'-diaminobenzidine

Ngày tải lên: 22/12/2014, 21:49

... sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations J Natl Cancer Inst 1998;90(15):1138 –45. 10 Honrado E, Benitez J, Palacios J The molecular pathology of hereditary breast cancer: ... of the claudin-low intrinsic subtype of breast cancer Breast Cancer Res 2010;12(5):R68. 31 Perou CM Molecular stratification of triple-negative breast cancers. Oncologist 2011;16(Suppl 1):61 –70. ... expressed in 58% of BRCA1-mutated tumors compared to only 7% in BRCA2-BRCA1-mutated tumors (p < 0.001) and 1% in WT tumors (p < 0.001) CK5 and CK14 expression were also more likely to arise in BRCA1

Ngày tải lên: 17/06/2020, 16:45

... breast cancer 26.5% (127), breast and ovarian cancer in the same woman 0.8% (4), and male breast cancer 1.3% (6) Characteristics of the germline mutations To survey the breast cancer susceptibility ... of germline mutations in 11 of the 20 breast cancer susceptibility genes In contrast to western popula-tions,BRCA2 mutations (52.3%) were much more common than BRCA1 mutations (9.2%) in our cohort, ... panel testing study Among the 20 genes, BRCA1, BRCA2, PALB2, TP53, CDH1, PTEN, ATM, CHEK2, BARD1, STK11, NBN have been well established as breast cancer susceptibility genes [7, 16, 17] Some are

Ngày tải lên: 24/07/2020, 02:03

... second most common cancer in the world and the incidence of female breast cancer has continuously increased [1] In 2013, 1.8 million incident cases of breast cancer occurred, and the disease caused ... drugs [9] In 1998, a link between elevated insulin-like growth fac-tor 1 (IGF1) blood levels and breast cancer risk in pre-menopausal women has been published [10] In this context the IGF1R emerged ... molecule IGF1R inhibitor with gefitinib as EGFR/ ErbB2 inhibitor [13] However, as has been seen for IGF1R inhibitors alone, larger clinical trials combining IGF1R inhibitors with either gefitinib or

Ngày tải lên: 06/08/2020, 04:27

... germline mutation in the BRCA1 and BRCA2 genes have an increased life-time risk of developing breast, ovarian, and several other cancers [1] The identification of women harbor-ing mutations in these ... mutations (%) in Non- No of cases No of mutations (%) in Non-BRCA1 BRCA2 BRCA1/2 carriers BRCA1 BRCA2 BRCA1/2 carriers Family phenotype 1 early-onset BC ( ≤ 30 years) 90 13 (14.4) 0 (0) 13 (14.4) ... fre-quencies varying from 9.4 to 15.4 % in unselected, 17.4 to 49.1 % in younger age and 11.6 to 62 % in high risk patients with TNBC [7–15] Studies reporting the fre-quency of BRCA1/2 mutations in TNBC

Ngày tải lên: 20/09/2020, 17:44

... 3 2 7 5 15 Any C & Any A CYP1A2 rs762551 & CYP19A1 s4646 Number of events: 152 152 149 146 141 136 100 96 52 49 11 8 17 Number entering interval: CYP1A2 & CYP19A1 All other Any ... SNPs at the same time [31] The Affymetrix DMET Plus Premier Pack includes 1931 SNPs in 227 genes in ADME-related genes on a single array We hypothesized that SNPs in the aromatase gene CYP19A1 and ... 6.85-777.0) 73 73 73 72 70 68 50 48 25 24 5 5 107 107 100 96 89 84 58 56 31 30 10 4 20 20 19 18 15 14 13 13 10 7 1 1 Number of events: Number entering interval: CYP1A2 & AhR A/A & G/G A/A &

Ngày tải lên: 21/09/2020, 09:43

... an oncogene in many types of cancer, but in breast cancer results remain controversial We set out to clarify the role of YAP1 in breast cancer by examining gene and protein expression in subgroups ... amplification of the 11q13 region harbouring the known oncogene cyclin D1 gene (CCND1), which is amplified in 8-15% of all breast cancers and associated with a worse prognosis [47-49] The inverse correlation ... YAP1 in the basal-like SW527 human breast cancer cell line [19], altogether suggesting YAP1 to function as an oncogene in breast cancer Furthermore, YAP1 is now widely recognized as one of the

Ngày tải lên: 05/11/2020, 01:20

... C Southey9• Marjanka K Schmidt10• Annegien Broeks10•Peter A Fasching11,12•Lothar Haeberle11• Julian Peto13•Isabel dos-Santos-Silva13•Elinor J Sawyer14•Ian Tomlinson15•Barbara Burwinkel16,17• Frederik ... The SNP rs181888151, which is in complete LD with rs146170568 (r2= 1) but inde-pendent of rs1905339 (r2= 0.01, Fig 1 ) was significantly associated with increased risk for overall breast cancer ... cancer (per allele OR 1.31, 95 % CI 1.16–1.49, p value = 2.8 9 10-5) Together with a further independently asso-ciated imputed SNP rs141732716, these polymorphisms reside in strong DNase I hypersensitivity

Ngày tải lên: 02/11/2022, 10:42

... integration of these findings into the routine pathology diagnostic workup led to the development of a 50 gene signature for the de-termination of the intrinsic subtypes [7] and the transfer of ... technology investigating mRNA expression patterns of 1,753 genes in 84 patient samples [4], 8.000 genes in 122 patient samples [5] or 306 genes in 416 pa-tient samples [6] Attempts to enable integration ... in diagnosis and treatment of breast cancer during the past decades, approximately 15 % of all newly diagnosed breast cancer patients will still die of the disease within the first 5 years [1]

Ngày tải lên: 04/12/2022, 10:31

... LIN-35/Rb proteins are proposed to function by directly binding E2F family proteins [11,12] The strain efl-1(se1) [13] carries a weakloss-of-function mutation in the worm E2F family gene efl-1, ... phenotypes in each of the synMuv strains compared to in wild-type worms We found that strains carrying inactivating mutations in the synMuv B genes lin-15B (Figure 1a, Table 4), dpl-1, and lin-9 (Table ... of zinc finger/leucine zipper genes identified from the molecular cloning of the t(10;11) translocation in acute leukemia Blood 1995, 85:1435-1441. 29. Church DL, Guan KL, Lambie EJ: Three genes

Ngày tải lên: 14/08/2014, 16:20

... 2.14, 95% CI 1.43–3.19) Moreover, with each 10% increase in TIL level, patients with TNBC had an in-creased pCR rate (OR 1.09, 95% CI 1.02–1.16) A poten-tial explanation for these findings is the ... types, including tumor-infiltrating lympho-cytes (TILs) Accumulating evidence indicates that TILs play essential roles in carcinogenesis and cancer progres-sion [ 4 ] Furthermore, interleukin (IL)-6 ... indicate if changes were made The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the

Ngày tải lên: 17/06/2020, 03:27

... Penicillin-streptomycin (1%) and fetal bovine serum (FBS) (10%) (Invitrogen, UK) were also included in cell culture media For culturing of MCF-10A cells, other supplements including insulin (10μg/ml), ... and compared with the other miRNAs Investigation of miR-154-target interaction To check the direct interaction of miR-154 with including the target binding site was cloned in the psiCHECK-2 reporter ... directly related to the emergence of various aspects of tumorigenesis such as angiogenesis, tumor growth, metastasis, and response to therapy in breast cancer [13, 14] miR-154 is a tumor suppressor which

Ngày tải lên: 17/06/2020, 18:43

... AKAP10 chr17:19861659 17p11.2 A > G 4/15 Leu182Pro RGS1 binding domain AKAP11 AKAP12 chr6:151670403 chr6:151671474 6q25.1 G > A G > A 4/5 4/5 Gly293Arg Ala650Thr EGFR interaction domain ... 13/14 Gly2225Glu NA tolerated 0% 17% P1 AKAP7 AKAP8 chr19:15484018 19q13.12 G > A 1/11 Gln169X MCM2 binding domain AKAP9 chr7:91708964 7q21.2 G > A 31/50 Ser2518Asn close to PKA-R domain ... AKAP9 chr7:91630327 7q21.2 A > G 8/50 Ile366Val close to bindning domain AKAP10 AKAP11 chr13:42875448 13q14.11 G > A 8/13 Asp856Asn NA tolerated 0% – 8% pat 12 AKAP12 AKAP13 AKAP14 Tumor cell

Ngày tải lên: 24/07/2020, 00:31

... BAP1 gene mutations have been observed in ~10 % of ccRCC samples [9, 10] Vhlh-Bap1 double knockout gen-erated clear-cell lesions that resemble carcinoma [11] On the other hand, mutations in the ... 2a) indicated that there was a >10-fold increase in erythrocyte progenitors in livers of knockout mice The extent of increase in TER119 + CD71+ cell number is in agreement with colony forming ... triple stained with the following antibodies: CD45-Percp-Cy5 1:200, TER119-APC 1:100 and CD71-PE 1:200; followed by Aqua Blue Live/Dead stain (Life Technologies) For determination of chimerism in peripheral

Ngày tải lên: 20/09/2020, 18:10

... protective effects in the breast cancer [38, 45, 46] Therefore, we further evaluated the role of NO in breast cancer by supplementation of an NOS inhibi-tor, aminoguanidine (AG) into the 4 T1 TB mice ... occurring breast cancer in humans [14], thus we se-lected 4 T1 mouse mammary carcinoma cell line to establish the breast cancer model 4 T1 cell line was ob-tained from the Cell Bank of the Chinese Academy ... Liaoning 110001, China 4 Department of Immunology, College of Basic Medical Sciences, China Medical University, Shenyang, Liaoning 110122, China. Received: 12 October 2015 Accepted: 20 May 2016

Ngày tải lên: 21/09/2020, 01:29

... Province (2012C24016), and the Zhejiang Provincial Natural Science Foundation of China (LY12H16014, LY13H160014 and LY14H160043). Availability of data and materials The data involved in the current ... is the leading type of new cancer cases and the second leading cause of cancer related deaths in fe-males worldwide [1] During the past 30 years, the inci-dence and mortality of breast cancer in ... Breast cancer in China Lancet Oncol 2014;15(7):e279 –89. 3 Jia M, Zheng R, Zhang S, Zeng H, Zou X, Chen W Female breast cancer incidence and mortality in 2011 China J Thorac Dis 2015;7(7):1221 –6.

Ngày tải lên: 21/09/2020, 01:57

... occurs in the DNA-binding domain containing the five Kru ¨ ppel-like C 2 H 2 zinc fingers (amino acids 4 01 616 ). O -GlcNAc glycosylation of full-length HIC1 proteins does not affect their DNA binding ... i.e. the zinc fingers domain and the C-terminal end. To confirm these results, the full-length HIC1 protein and two C-truncated HIC1 mutants (1 714 , 1 616 and 1 400; Fig. 4A) were produced in reticulocyte ... proteins did not unravel salient differences in their DNA-binding properties, demonstrating that the glycosy- lation is neither directly nor indirectly involved in the D NA- binding activity. In these...

Ngày tải lên: 30/03/2014, 15:20

... called BRCA1 and BRCA2, and having these genes does make them particularly susceptible to developing breast cancer 11 ,12 . These genes are very rare. Other rare variations in certain genes ... Cancer Inst 99, pp 115 2 -11 61. 27 Katalinic A and Rajal R (2007). Decline in breast cancer incidence after decrease in utilisation of hormone replacement therapy. Breast Cancer Prev Treat (In ... and breast cancer risk. Int J Cancer. , 11 7(4), pp 619 -628. Factors in uencing the risk of breast cancer – established and emerging April 2008 8 Factors in uencing the risk of breast cancer...

Ngày tải lên: 15/03/2014, 01:20

... War1p were raised in rabbits against a GST-War1p fusion protein containing 294 amino acids of the C-terminal part of War1p (amino acids 650– 944) fused in- frame to the C-terminus of GST. The gene fusion ... War1p or a lack of DNA binding. Indeed, in the case of War1-42p, in vivo footprinting data (Fig. 5) indicate an inability to bind to the WARE, which is normally decorated by wild-type War1p in the presence ... unaf- fected, we determined whether War1-42p still binds to the WARE in the PDR12 promoter. To clarify this, we performed in vivo footprinting experiments in cells expressing War1-42p. The strains YPH499...

Ngày tải lên: 19/02/2014, 00:20

... (I) [U] ½ ( M ) p ½ (kbar) DV/n a (mLÆmol )1 ) CM LS WT 4.6 3.0 3 .1 4.65 M88V B 3.2 1. 6 1. 4 19 . 81 T45S I 3.0 1. 8 1. 5 14 .12 D11N S 5.8 >3.2 >3.2 – a The apparent volume change of association (DV) was determined by replotting the ... is contained [11 ,12 ]. The tertiary structure and topology of the MS2 coat protein is different from those of other simple icosahedral viruses [13 ]. The main chain of the protein subunit folds into ... 10 8 10 8 10 2 ND M88V 10 8 10 7 10 2 ND D11N 10 8 10 8 10 7 10 2 Ó FEBS 2003 Cavities and stability in MS2 capsid mutants (Eur. J. Biochem. 2 71) 13 9 High pressure is an efficient tool for studies on the folding...

Ngày tải lên: 19/02/2014, 12:20