Abstract:
PURPOSE:Germline mutations in BRCA1 and BRCA2 confer a significant increase in risk for cancer, and determining pathogenicity of a BRCA variant can guide the clinical management of the disease. About 1/3 of BRCA1 variants reported in the public databases have uncertain clinical significance due to lack of conclusive evidence. This study aims to characterize a novel BRCA1 deletion affecting the + 4 splice donor site identified in an individual with early-onset breast cancer. METHODS:The effect of BRCA1 c.5332+4delA variant on RNA splicing was evaluated by amplifying regions of BRCA1 from cDNA derived from the patient. The proportion of abnormal transcript in the total transcripts was quantified. Loss of heterozygosity (LOH) in tumor tissue was investigated using Sanger sequencing and fragment analysis. RESULTS:BRCA1 c.5332+4delA caused skipping of exon 21 in patient-derived samples. Semi-quantitative analysis indicated that this aberrant RT-PCR product accounts for about 40% of the total transcript levels. Loss of heterozygosity (LOH) was observed in patient's tumor tissue. CONCLUSIONS:Our results indicate that the BRCA1 c.5332+4delA variant contributes to cancer predisposition through disruption of normal mRNA splicing. We classify this variant as likely pathogenic.
journal_name
Breast Cancer Res Treatjournal_title
Breast cancer research and treatmentauthors
Yang C,Jairam S,Amoroso KA,Robson ME,Walsh MF,Zhang Ldoi
10.1007/s10549-017-4595-8subject
Has Abstractpub_date
2018-04-01 00:00:00pages
543-550issue
2eissn
0167-6806issn
1573-7217pii
10.1007/s10549-017-4595-8journal_volume
168pub_type
杂志文章abstract:BACKGROUND:A multicenter phase II study was conducted to analyze the clinical activity of the steroidal aromatase inhibitor exemestane in the neoadjuvant treatment of post-menopausal women with strongly ER- and/or PgR- positive operable breast cancer. PATIENTS AND METHODS:From September 2000 to December 2003, 80 women...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,多中心研究
doi:10.1007/s10549-007-9843-x
更新日期:2008-11-01 00:00:00
abstract::The present preclinical study was designed to evaluate a new combination therapy comprised of the aromatase inhibitor anastrozole (ANA) and the oral fluoropyrimidines, UFT and S-1 against the estrogen receptor (ER)-positive human breast cancer cell line MCF-7/Arom 14, which was stably transfected with the cDNA of huma...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-010-1141-3
更新日期:2011-07-01 00:00:00
abstract::To better define the influence by host factors on very early breast cancer behavior, we retrospectively analyzed nodal status, diameter of the largest axillary metastasis (M), diameter of the primary tumor (P), the M/P ratio, tumor estrogen receptor status, age, obesity, and smoking habits in 176 women with node-posit...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF00689833
更新日期:1993-01-01 00:00:00
abstract::Epidemiological studies have evaluated the association between catechol-O-methyltransferase (COMT) Val108/158Met polymorphism and breast cancer risk. However, the results remain conflicting rather than conclusive. In order to derive a more precise estimation of the relationship, we performed this meta-analysis. System...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,meta分析
doi:10.1007/s10549-009-0650-4
更新日期:2010-06-01 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:Younger women diagnosed with breast cancer have poorer prognoses and higher mortality compared to older women. Young black women have higher incidence rates of breast cancer and more aggressive subtypes than women of other races/ethnicities. In this study, we examined recent trends and variations in breast canc...
journal_title:Breast cancer research and treatment
pub_type: 历史文章,杂志文章
doi:10.1007/s10549-018-4699-9
更新日期:2018-06-01 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 records of 231 patients with primary breast cancer and 85 patients with metastatic breast cancer were reviewed to determine whether indices of body weight were associated with prognosis. Results support previous reports that indices of body weight are relatively weak, but real, prognostic factors. ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF01807654
更新日期:1985-01-01 00:00:00
abstract:PURPOSE:Ki-67 has been clinically validated for risk assessment in breast cancer, but the analytical validation and cutpoint-definition remain a challenge. Intraclass correlation coefficients (ICCs) are a statistical parameter for Ki-67 interobserver performance. However, the maximum degree of variance among pathologis...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-018-05112-9
更新日期:2019-08-01 00:00:00
abstract::Triple negative breast cancer (TNBC) is an aggressive clinical phenotype characterized by lack of expression (or minimal expression) of estrogen receptor (ER) and progesterone receptor (PR) as well as an absence of human epidermal growth factor receptor-2 (HER2) overexpression. It shows substantial overlap with basal-...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
doi:10.1007/s10549-010-1293-1
更新日期:2011-02-01 00:00:00
abstract::Elevated levels of circulating estrogens and androgens are linked to higher breast cancer risk among postmenopausal women; however, little is known about hormone levels within the breast. Hormone concentrations within the breast may not be reflected in the blood and are likely important contributors to breast carcinog...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-011-1734-5
更新日期:2012-01-01 00:00:00
abstract:PURPOSE:Dysregulation of HER2 signaling pathway in breast cancer is well documented. Our bioinformatics analysis predicted hsa-miR-512-3p (miR-512-3p) as a bona fide regulator of HER2 as well as HER3, PIK3R2, and AKT1 genes. Then, we intended to examine the effect of miR-512-3p on the predicted target genes that are in...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-020-05937-3
更新日期:2021-01-01 00:00:00
abstract::The anti-estrogenic effect of tamoxifen is suggested to be mainly attributable to its metabolite (Z)-endoxifen, and a minimum therapeutic threshold for (Z)-endoxifen in serum has been proposed. The objective of this research was to establish the relationship between dried blood spot (DBS) and serum concentrations of t...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-014-2999-2
更新日期:2014-07-01 00:00:00
abstract:BACKGROUND:At the present time, there is no consensus on the association between benign thyroid diseases and breast cancer (BC). Therefore, the aim of this study is to help shed some light on the association between hyperthyroidism, hypothyroidism, and thyroiditis and breast cancer risk. METHODS:Use of the Disease Ana...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-020-05675-6
更新日期:2020-07-01 00:00:00
abstract::The aromatase inhibitors exemestane and anastrozole are approved in Japan for first-line treatment of postmenopausal patients with advanced, hormone-receptor-positive breast cancer. This phase 3, randomized, double-blind study directly compared time to progression (TTP) for exemestane and anastrozole therapy in this p...
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/s10549-013-2573-3
更新日期:2013-06-01 00:00:00
abstract:OBJECTIVE:The national guidelines recommend more intensive screening for breast cancer for women with a family history of breast or ovarian cancer. Using the data from the 2000 National Health Interview Survey (NHIS), we examined factors related to the underuse of mammogram in this population. METHOD:The study subject...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-006-9298-5
更新日期:2007-03-01 00:00:00
abstract::Obese breast cancer survivors have increased risk of recurrence and death compared to their normal weight counterparts. Rural women have significantly higher obesity rates, thus weight control intervention may be a key strategy for prevention of breast cancer recurrence in this population. This one-arm treatment study...
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/s10549-011-1922-3
更新日期:2012-04-01 00:00:00
abstract::Cytoplasmic HuR is associated with reduced survival in invasive breast cancer. We designed this study to determine the predictive and prognostic value of HuR expression in women with breast cancer who underwent neoadjuvant chemotherapy followed by surgical resection. We immunohistochemically analyzed cytoplasmic HuR e...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-013-2679-7
更新日期:2013-09-01 00:00:00
abstract::Relaxin (RLX) is known to induce remodeling of benign stromal tissues through upregulation of matrix metalloproteases (MMPs). Recently, we could show that RLX also induces MMPs in breast cancer cells and enhances in vitro invasiveness. To investigate its potential role for progression of breast cancer in vivo, RLX ser...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/B:BREA.0000041622.30169.16
更新日期:2004-09-01 00:00:00
abstract:PURPOSE:In order to better define the breast cancer (BC) genetic risk factors in men, a germline investigation was carried out on 81 Male BC cases by screening the 24 genes involved in BC predisposition, genome stability maintenance and DNA repair mechanisms by next-generation sequencing. METHODS:Germline DNAs were te...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-019-05429-z
更新日期:2019-12-01 00:00:00
abstract:PURPOSE:To investigate the effect of understanding their own disease by patients with metastatic breast cancer on their survival potential after being informed by their physician. PATIENTS AND METHODS:Two hundred and fourteen women with metastatic breast cancer who participated in a multi-institutional, randomized pha...
journal_title:Breast cancer research and treatment
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1023/a:1006483214678
更新日期:2000-05-01 00:00:00
abstract::Previously we have shown that exercising rats prior to administration of 50 mg NMU/kg (high dose) significantly decreased tumor multiplicity, but not incidence or latency. We hypothesized that the dose of NMU saturated the system such that the exercise intervention was overshadowed. Therefore, the purpose of this inve...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1005838721890
更新日期:1998-01-01 00:00:00
abstract:BACKGROUND:Staging procedures used to detect metastatic breast cancer at the time of diagnosis are bone scan (BS), chest X-ray (CXR), liver ultrasonography (LUS) and laboratory parameters (LP). These procedures are expensive and not all patients need them. We aimed to identify groups of patients with different risks fo...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1014900600815
更新日期:2002-03-01 00:00:00
abstract:PURPOSE:P-cadherin (CDH3), located at 16q22.1 belonging to classical cadherin family, is a calcium-dependent glycoprotein associated with cell to cell adhesion, migration, and invasion in cancer. This meta-analysis was conducted to examine the prognostic utility of P-cadherin expression in breast cancer (BC). METHODS:...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,meta分析
doi:10.1007/s10549-019-05477-5
更新日期:2020-01-01 00:00:00
abstract::Germline mutations in the BRCA1/2 genes account for the majority of hereditary breast ovarian cancer (HBOC). Identification of causal mutations may have significant impact on clinical management of such families. Despite high mutation detection rate, many HBOC cases remain without identified cause. These cases warrant...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-010-1325-x
更新日期:2011-02-01 00:00:00
abstract::In the last decade, percutaneous breast biopsies have become a standard for the management of breast diseases. Biopsy clips allow for precise lesion localization, thus minimizing the volume of breast to be resected at the time of surgery. With the development of many imaging techniques (including mammography, sonograp...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
doi:10.1007/s10549-011-1847-x
更新日期:2012-04-01 00:00:00
abstract::We examined the role of Mcl-1 and Bcl-2 expression in the induction of apoptosis. through blocking protein tyrosine kinase (PTK), protein kinase C (PKC), phosphatidylinositol 3-kinase (P13-K) and mitogen-activated protein kinase (MAPK)/Erk kinase (MEK) signaling pathways by various kinase inhibitors in MCF-7 breast ca...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1012564620853
更新日期:2001-11-01 00:00:00
abstract:PURPOSE:TP53 mutation is the most common mutation in breast cancer, and it is considered a target marker of triple-negative breast cancer (TNBC). We investigated whether expression of p53 detected by immunochemical staining predicts the chemotherapy response of TNBC. METHODS:A total of 11,393 TNBC patients who had bet...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-018-4928-2
更新日期:2018-11-01 00:00:00
abstract::Tamoxifen has been a standard first-line endocrine therapy for post-menopausal women with hormone-responsive advanced breast cancer, but more than half of patients fail to respond and time to progression is less than 12 months in responders. The third-generation aromatase inhibitors were developed to provide more effe...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10549-007-9527-6
更新日期:2007-01-01 00:00:00
abstract::Fulvestrant fIRst-line Study comparing endocrine Treatments is a phase II, randomized, open-label study comparing fulvestrant 500 mg with anastrozole 1 mg as first-line endocrine therapy for postmenopausal women with hormone receptor-positive (HR+) advanced breast cancer. At data cut-off, only 36 % of patients had pro...
journal_title:Breast cancer research and treatment
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/s10549-012-2192-4
更新日期:2012-11-01 00:00:00