Abstract：
:Genomic instability at microsatellite loci is a hallmark of many cancers, including breast cancer. However, much of the genomic variation and many of the hereditary components responsible for breast cancer remain undetected. We hypothesized that variation at microsatellites could provide additional genomic markers for breast cancer risk assessment. A total of 1,345 germline and tumor DNA samples from individuals diagnosed with breast cancer, exome sequenced as part of The Cancer Genome Atlas, were analyzed for microsatellite variation. The comparison group for our analysis, representing healthy individuals, consisted of 249 females which were exome sequenced as part of the 1,000 Genomes Project. We applied our microsatellite-based genotyping pipeline to identify 55 microsatellite loci that can distinguish between the germline of individuals diagnosed with breast cancer and healthy individuals with a sensitivity of 88.4 % and a specificity of 77.1 %. Further, we identified additional microsatellite loci that are potentially useful for distinguishing between breast cancer subtypes, revealing a possible fifth subtype. These findings are of clinical interest as possible risk diagnostics and reveal genes that may be of potential therapeutic value, including genes previously not associated with breast cancer.
journal_name
Breast Cancer Res Treatjournal_title
Breast cancer research and treatmentauthors
McIver LJ,Fonville NC,Karunasena E,Garner HRdoi
10.1007/s10549-014-2908-8subject
Has Abstractpub_date
2014-06-01 00:00:00pages
791-8issue
3eissn
0167-6806issn
1573-7217journal_volume
145pub_type
杂志文章abstract：:Transforming growth factor-β1 (TGF-β1) is negative regulator of cell proliferation and the cell cycle, and plasma levels of TGF-β1 are twice as high in TGF-β1 -509 T homozygotes as in -509 C homozygotes. Published studies on the association between the TGF-β1 gene -509 C/T polymorphism and breast cancer risk are incon...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章,meta分析
doi：10.1007/s10549-010-0871-6
更新日期：2010-11-01 00:00:00
abstract：:Circulating tumor cells are commonly observed in the peripheral blood of advanced breast cancer patients. We tested the feasibility of tumor cell detection in the cerebrospinal fluid (CSF) and studied its clinical relevance in leptomeningeal metastasis (LM) of breast cancer. CSF samples were collected from 38 metastat...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-015-3610-1
更新日期：2015-11-01 00:00:00
abstract：:The early spread of tumor cells in primary breast cancer patients may occur either through lymphatic or hematogenous dissemination. Lymph node (LN) status and presence of disseminated tumor cells (DTC) in bone marrow (BM) are independent predictors of poor outcome. It is unknown which factors determine one or the othe...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-011-1802-x
更新日期：2012-01-01 00:00:00
abstract：PURPOSE:The malignant upgrade rate of flat epithelial atypia (FEA) diagnosed on core needle biopsy varies between 0 and 30%. Excision versus observation with radiological follow-up for these lesions remains controversial. We hypothesize that the local rate of FEA is low and that close radiological surveillance is a rea...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-019-05481-9
更新日期：2020-01-01 00:00:00
abstract：:The DNA repair pathway is known to play a role in the etiology of breast cancer. A number of studies have demonstrated that common germline variants in genes involved in the DNA repair pathway influence breast cancer risk. To assess whether alterations in DNA repair genes contribute to breast cancer, we genotyped 12 s...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-008-0084-4
更新日期：2009-06-01 00:00:00
abstract：:Expression of HOX transcript antisense intergenic RNA (HOTAIR)--a long non-coding RNA--has been examined in a variety of human cancers, and overexpression of HOTAIR is correlated with poor survival among breast, colon, and liver cancer patients. In this retrospective study, we examine HOTAIR expression in 164 primary ...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-013-2776-7
更新日期：2013-12-01 00:00:00
abstract：PURPOSE:Platelets are essential components of hemostasis and also play an important role in the tumor microenvironment. The purposes of our research were to examine the role of thrombocytosis in inflammatory breast cancer (IBC) and to know which cytokine drives thrombocytosis. METHODS:We reviewed the medical records o...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-017-4463-6
更新日期：2017-12-01 00:00:00
abstract：BACKGROUND:The estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2) statuses are frequently discordant between the primary tumor and metastatic lesions in metastatic breast cancer. This can have important therapeutic implications. PATIENTS AND METHODS:In all, 541 pati...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-020-05746-8
更新日期：2020-08-01 00:00:00
abstract：PURPOSE:To investigate the clinical impact of FDG-PET/CT for staging and treatment planning in high-risk primary breast cancer. METHODS:Women with high-risk primary breast cancer were enrolled between September 2017 and August 2019 at Odense University Hospital, Denmark. Conventional mammography with/without MRI was p...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-020-05929-3
更新日期：2021-01-01 00:00:00
abstract：BACKGROUND:High insulin levels have been associated with poor outcomes in breast cancer. Our goal was to investigate whether hyperinsulinemia was associated with insulin resistance in a cohort of newly diagnosed locoregional breast cancer patients and to examine associations of hyperinsulinemia with the broader insulin...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-008-0019-0
更新日期：2009-04-01 00:00:00
abstract：:Sex Hormone-Binding Globulin (SHBG), the plasma carrier for androgens and estradiol, inhibits the estradiol-induced proliferation of breast cancer cells through its membrane receptor, cAMP, and PKA. In addition, the SHBG membrane receptor is preferentially expressed in estrogen-dependent (ER+/PR+) breast cancers which...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1023/a:1006100929670
更新日期：1999-03-01 00:00:00
abstract：:Many epidemiologic features of breast cancer suggest that endogenous hormones are of importance in the genesis of this disease. Endocrinologic studies based on total levels of various hormones in serum and urine have provided etiologic clues, but have failed to yield a clear understanding of the hormonal aberrations t...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：
更新日期：1986-01-01 00:00:00
abstract：:The AZURE trial is an ongoing phase III, academic, multi-centre, randomised trial designed to evaluate the role of zoledronic acid (ZOL) in the adjuvant therapy of women with stage II/III breast cancer. Here, we report the safety and tolerability profile of ZOL in this setting. Eligible patients received (neo)adjuvant...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章,随机对照试验
doi：10.1007/s10549-011-1429-y
更新日期：2011-06-01 00:00:00
abstract：PURPOSE:The methods (IHC/FISH) typically used to assess ER, PR, HER2, and Ki67 in FFPE specimens from breast cancer patients are difficult to set up, perform, and standardize for use in low and middle-income countries. Use of an automated diagnostic platform (GeneXpert®) and assay (Xpert® Breast Cancer STRAT4) that emp...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-018-4889-5
更新日期：2018-11-01 00:00:00
abstract：PURPOSE:Patients with spontaneous nipple discharge (SND) who have neither clinically palpable masses nor evidence of disease on imaging with mammogram and/or ultrasound are traditionally investigated with galactogram and duct excision. As breast imaging improves, it has raised the question whether galactography and mic...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-018-05109-4
更新日期：2019-04-01 00:00:00
abstract：:In 141 postmenopausal node-positive patients with primary breast cancer, routine biochemical markers (alkaline phosphatase, gamma-glutamyl transpeptidase, carcinoembryonic antigen), and chest x-ray, in combination with history and clinical examination, have been performed at 3 monthly intervals for at least 2 years. S...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/BF01807283
更新日期：1988-07-01 00:00:00
abstract：PURPOSE:The Ki67 proliferation index is a prognostic and predictive marker in breast cancer. Manual scoring is prone to inter- and intra-observer variability. The aims of this study were to clinically validate digital image analysis (DIA) of Ki67 using virtual dual staining (VDS) on whole tissue sections and to assess ...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-018-4669-2
更新日期：2018-05-01 00:00:00
abstract：PURPOSE:The epithelial-mesenchymal transition (EMT) plays a key role in breast cancer progression and metastasis. Lipocalin 2 (LCN2) is involved in the regulation of EMT. The aim of this study was to investigate the clinicopathological significance of LCN2 expression in breast cancer. METHODS:The expression of LCN2 pr...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-019-05488-2
更新日期：2020-02-01 00:00:00
abstract：:Irreversible electroporation (IRE) is a therapeutic technology for the ablation of soft tissues using electrodes to deliver intense but short electric pulses across a cell membrane, creating nanopores that lead to cell death. This phenomenon only affects the cell membrane, leaving the extracellular matrix and sensitiv...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-010-0803-5
更新日期：2010-08-01 00:00:00
abstract：:The enumeration of circulating tumor cells (CTCs) provides important prognostic values in patients with metastatic breast cancer. Recent studies indicate that individual CTCs form clusters and these CTC-clusters play an important role in tumor metastasis. We aimed to assess whether quantification of CTC-clusters provi...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-015-3636-4
更新日期：2015-12-01 00:00:00
abstract：:Although breast cancer familial aggregation has been studied in Caucasians, information for African-Americans is scant. We used family cancer history from the Women's Contraceptive and Reproductive Experiences study to assess the aggregation of breast and gynecological cancers in African-American and Caucasian familie...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-004-2046-9
更新日期：2005-02-01 00:00:00
abstract：:To determine whether atypical antipsychotics, when compared to typical antipsychotics, increase the risk of breast cancer. We conducted a retrospective cohort study using a nested case-control analysis within the United Kingdom General Practice Research Database population. We identified all female patients prescribed...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-011-1506-2
更新日期：2011-09-01 00:00:00
abstract：:The immune-deficient nude mouse with human tumor xenografts is an appropriate model system for performing detailed growth kinetic examinations. In the present study one estrogen and progesterone receptor-negative (T60) and three receptor-positive (Br-10, MCF-7, T61) human breast cancer xenografts in nude mice were inv...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/BF01810740
更新日期：1989-11-01 00:00:00
abstract：AIMS:To investigate the efficacy of letrozole 2.5 mg and 10 mg used as primary neoadjuvant therapy for patients with locally advanced and large operable breast cancer. PATIENTS AND METHODS:Twenty-four postmenopausal patients with locally advanced or large operable breast cancer were treated in two consecutive series w...
journal_title：Breast cancer research and treatment
pub_type： 临床试验,杂志文章
doi：10.1023/a:1010669403283
更新日期：2001-04-01 00:00:00
abstract：PURPOSE:Platinum plays an important role in the treatment of triple-negative breast cancer (TNBC) in neoadjuvant and metastatic settings. However, its role in an adjuvant setting remains unclear. METHODS:In this non-inferior randomized phase 2 trial, we randomly assigned 308 chemotherapy-naive patients with histologic...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1007/s10549-020-05648-9
更新日期：2020-07-01 00:00:00
abstract：:Long-term estrogen deprivation treatment for breast cancer can, in some patients, lead to the activation of alternate cellular pathways, resulting in the re-emergence of the disease. This is a distressing scenario for oncologists and patients, but recent intensive molecular and biochemical studies are beginning to unr...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章,评审
doi：10.1007/s10549-007-9697-2
更新日期：2007-01-01 00:00:00
abstract：PURPOSE:The RAS family comprises three proto-oncogenes (H-RAS, K-RAS, and N-RAS) and is among the most widely studied of oncogenes. The present study aimed at investigating the clinical relevance of mRNA levels of the three isoforms in a large group of breast cancer patients with a long-term follow-up. METHODS:198 pre...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-019-05474-8
更新日期：2020-01-01 00:00:00
abstract：:The Gail model is considered the best available means for estimating risk of breast cancer development, but it has not yet been applied systematically and validated in Turkish female population. This study was designed to evaluate the performance of the Gail model for Turkish female population. Additionally duration o...
journal_title：Breast cancer research and treatment
pub_type： 临床试验,杂志文章
doi：10.1007/s10549-009-0541-8
更新日期：2010-04-01 00:00:00
abstract：:Women with reduced CYP2D6 activity have low endoxifen concentrations and likely worse long term benefits from tamoxifen. We investigated the association between CYP2D6 genotype and tamoxifen-induced hot flashes in a prospective cohort. We collected hot flash frequency and severity data over 12 months from 297 women in...
journal_title：Breast cancer research and treatment
pub_type： 临床试验,杂志文章,多中心研究
doi：10.1007/s10549-009-0309-1
更新日期：2009-10-01 00:00:00
abstract：INTRODUCTION:The current standard of treatment for non-palpable breast cancers is wire-guided localization (WGL). WGL has its drawbacks and alternatives such as radio-guided surgery (RGL) and intra-operative ultrasound (IOUS) have been developed. The clinical effectiveness of all forms of RGL has been assessed against ...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章,meta分析,评审
doi：10.1007/s10549-013-2639-2
更新日期：2013-08-01 00:00:00
