Abstract：
MAIN PURPOSE:Germline BRCA mutations (BRCAm) strongly influence the risk of developing breast cancer. This study aimed to understand the role of BRCAm testing in affected individuals and to assess its impact on the outcome of BRCAm carriers compared to non-carriers (BRCAwt) with breast cancer. RESEARCH QUESTION:The research question is "Does standard of care testing for BRCAm improve survival outcomes of breast cancer patients?" METHODS:In a single institution observational cohort study, demographic and clinical characteristics were compared between breast cancer patients with and without BRCAm. Frequency of BRCA testing was assessed. Survival outcomes were assessed by initial treatment setting stratified by BRCA status. RESULTS:Of 5712 identified women with breast cancer, 14.6% (n = 835) were tested for a BRCA mutation and had a documented result. The total number and proportion of women tested for a BRCAm increased between 2000 and 2014, resulting in an increased number of BRCAm carriers identified. However, the proportion of women who underwent testing and had a BRCAm decreased during the study period from 27.5% in 2000-2004 to 13.3% in 2010-2014. Disease-free survival was similar in the adjuvant and neoadjuvant treatment settings between BRCAm and BRCAwt patients. Progression-free survival on first line treatment and overall survival for patients with metastatic disease was also similar between BRCAm and BRCAwt patients. CONCLUSIONS:The proportion of women tested and the number of BRCAm identified increased during the study period despite a decreasing proportion of positive results among women tested.
journal_name
Breast Cancer Res Treatjournal_title
Breast cancer research and treatmentauthors
Stenehjem DD,Telford C,Unni SK,Bauer H,Sainski A,Deka R,Schauerhamer MB,Ye X,Tak CR,Ma J,Dalvi TB,Gutierrez L,Kaye JA,Tyczynski JE,Brixner DI,Biskupiak JEdoi
10.1007/s10549-020-06038-xsubject
Has Abstractpub_date
2021-01-03 00:00:00eissn
0167-6806issn
1573-7217pii
10.1007/s10549-020-06038-xpub_type
杂志文章abstract：:In 1973, McGuire and Chamness (In: O'Malley BW and Means AR (ed) Receptors for Reproductive Hormones, Plenum Press) summarized their work on the estrogen receptor in animal and human breast tumors, and in so doing described a target for therapeutic intervention. At that time there were no clinically useful antiestroge...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章,评审
doi：10.1007/BF00713399
更新日期：1995-01-01 00:00:00
abstract：PURPOSE:Fiber rich foods and dairy products have been suggested to be associated with breast cancer prognosis, though existing research is limited and either report on pre- or post-diagnostic dietary intake in relation to breast cancer prognosis. We investigated the associations between intake of whole grain (WG) and d...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-019-05497-1
更新日期：2020-02-01 00:00:00
abstract：:Feasibility of utilizing the 6-day subrenal capsule (SRC) assay to screen drugs against fresh surgical explants of human tumors was confirmed by testing six clinically active chemotherapeutic agents against 141 human breast cancers. Response rates of the six drugs obtained in the assay compared favorably with clinical...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/BF01806232
更新日期：1983-01-01 00:00:00
abstract：:In view of the essential role of transforming growth factorβ1 (TGFB1) on both inhibiting the development of early benign breast tumors as well as promoting tumor invasion, the association of TGFB1 L10P polymorphism and breast cancer risk has been widely reported, but results of previous studies were somewhat contradic...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章,meta分析,评审
doi：10.1007/s10549-010-0843-x
更新日期：2010-11-01 00:00:00
abstract：:Expression of the oestrogen producing enzyme, aromatase, is regulated in a tissue-specific manner by its encoding gene CYP19A1. In post-menopausal women, the major site for oestrogen production in the breast is the adipose, where CYP19A1 transcription is driven by the distal promoter I.4 (PI.4). Transcripts via this p...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-013-2413-5
更新日期：2013-02-01 00:00:00
abstract：:The c.156_157insAlu BRCA2 mutation has so far only been reported in hereditary breast/ovarian cancer (HBOC) families of Portuguese origin. Since this mutation is not detectable using the commonly used screening methodologies and must be specifically sought, we screened for this rearrangement in a total of 5,443 suspec...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-010-1036-3
更新日期：2011-06-01 00:00:00
abstract：:The Breast Imaging Reporting and Data System (BI-RADS) was introduced in 1993 to standardize the interpretation of mammograms. Though many studies have assessed the validity of the system, fewer have examined its reliability. Our objective is to identify predictors of reliability as measured by the kappa statistic. We...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章,评审
doi：10.1007/s10549-010-0770-x
更新日期：2010-04-01 00:00:00
abstract：:Estrogen receptor (ER) α is essential for estrogen-dependent growth, and its level of expression is a crucial determinant of response to endocrine therapy and prognosis in ERα-positive breast cancer. Breast cancer patients show a wide range of ERα expression levels and the levels of expression in individual patients c...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-011-1672-2
更新日期：2011-11-01 00:00:00
abstract：PURPOSE:Although quality of life (QoL) improves over time for most breast cancer survivors (BCS), BCS may show different patterns of QoL. This study sought to identify distinct QoL trajectories among BCS and to examine characteristics associated with trajectory group membership. METHODS:BCS (N = 653) completed baselin...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-018-4677-2
更新日期：2018-05-01 00:00:00
abstract：:Neurofibromatosis type 1 (NF1) is a common dominant autosomal disorder caused by mutations in the NF1 gene. The main manifestations of NF1 are café-au-lait spots, neurofibromas, intertriginous freckling, Lisch nodules, and malignancy, including peripheral nerve sheath tumors, central nervous system gliomas, and a vari...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-013-2538-6
更新日期：2013-06-01 00:00:00
abstract：:Erratum to: Breast Cancer Res Treat (2012),134:549–560,DOI 10.1007/s10549-012-2080-y. In the original publication of the article, Fig. 5c was published incorrectly. The authors apologize for this error and the correct Fig. 5c is given below. ...
journal_title：Breast cancer research and treatment
pub_type： 已发布勘误
doi：10.1007/s10549-016-3703-5
更新日期：2016-04-01 00:00:00
abstract：:Although high mammographic density is a risk factor for postmenopausal breast cancer, its etiology remains unclear. We examined whether serum and dietary cholesterol, which increase breast cancer risk and are involved in endogenous estrogen formation, were associated with increased mammographic density. We conducted a...
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/s10549-010-0927-7
更新日期：2011-01-01 00:00:00
abstract：:The purpose of this study is to evaluate the relationship between mammography interval and breast cancer mortality among older women with breast cancer. The study population included 1,914 women diagnosed with invasive breast cancer at age 75 or later during their participation in the Women's health initiative, with a...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-014-3114-4
更新日期：2014-11-01 00:00:00
abstract：PURPOSE:This study aimed to identify and classify genetic variants in consensus moderate-to-high-risk predisposition genes associated with Hereditary Breast and Ovarian Cancer Syndrome (HBOC), in BRCA1/2-negative patients from Brazil. METHODS:The study comprised 126 index patients who met NCCN clinical criteria and te...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-020-05985-9
更新日期：2020-10-30 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：BACKGROUND:Given its high recurrence risk, guidelines recommend systemic therapy for most patients with early-stage triple-negative breast cancer (TNBC). While some clinicopathologic factors and tumor-infiltrating lymphocytes (TILs) are known to be prognostic in patients receiving chemotherapy, their prognostic implica...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-017-4499-7
更新日期：2018-01-01 00:00:00
abstract：OBJECTIVES:To validate the newly proposed American Joint Committee on Cancer (AJCC) prognostic staging system for breast cancer. METHODS:Surveillance, epidemiology, and end results (SEER) database (2010-2014) was accessed. Cumulative incidence function was conducted (through assessment of sub-distribution hazard) acco...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-017-4577-x
更新日期：2018-02-01 00:00:00
abstract：:We concluded a randomized crossover trial comparing tamoxifen 40 mg daily with ovarian ablation for treatment of metastatic breast cancer in premenopausal women. Objective responses (complete response (CR) plus partial response (PR)) were observed in 5/20 patients treated initially with tamoxifen and in 3/19 patients ...
journal_title：Breast cancer research and treatment
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1023/a:1005895813401
更新日期：1997-07-01 00:00:00
abstract：PURPOSE:Discordance between HER2 expression in tumor tissue (tHER2) and HER2 status on circulating tumor cells (cHER2) has been reported. It remains largely underexplored whether patients with tHER2-/cHER2+ can benefit from anti-HER2 targeted therapies. METHODS:cHER2 status was determined in 105 advanced-stage patient...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-020-05662-x
更新日期：2020-06-01 00:00:00
abstract：:A human estrogen receptor (ER) cDNA probe was used to examine genomic DNA extracted from 59 primary invasive breast cancers. The tumors were also studied histopathologically, and their ER status was assessed by hormone-binding assay and immunohistochemical analysis. Southern blots of genomic DNA samples digested with ...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/BF01805976
更新日期：1989-10-01 00:00:00
abstract：:EMSY is a putative oncogene amplified in a minority of breast carcinomas, its protein product interacts with and transcriptionally silences BRCA2. We hypothesized that breast tumors from BRCA2 mutation carriers would be less likely than other familial breast cancers to exhibit EMSY amplification. As EMSY is located on...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-011-1380-y
更新日期：2011-06-01 00:00:00
abstract：:Transgender (TG) persons often receive, or self-treat, with cross-sex hormone (CSH) treatments as part of their treatment plans, with little known about their incidence of breast cancer. This information gap can lead to disparities in the provision of transgender health care. The purpose of the study was to examine th...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-014-3213-2
更新日期：2015-01-01 00:00:00
abstract：:Expression of progesterone receptor (PR) mRNA is indicative of a normal gene regulation mechanism mediated by functional estrogen receptor (ER). A simple assay which can reliably detect and quantitate PR mRNA levels in a small amount of tissue will be of value for studying functional status of ER. We have developed a ...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1023/a:1006081127924
更新日期：1998-07-01 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:Although breast cancer in young women accounts for <10% of diagnoses annually, tumors in young patients exhibit more aggressive characteristics and higher mortality rates. Determination of the frequency of germline mutations in cancer predisposition genes is needed to improve the understanding of breast cancer ...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-017-4291-8
更新日期：2017-08-01 00:00:00
abstract：:Prognosis of early beast cancer is heterogeneous. Today, no histoclinical or biological factor predictive for clinical outcome after adjuvant anthracycline-based chemotherapy (CT) has been validated and introduced in routine use. Using DNA microarrays, we searched for a gene expression signature associated with metast...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-010-1003-z
更新日期：2011-06-01 00:00:00
abstract：PURPOSE:To evaluate the patterns of failure, relapse-free survival and overall survival among African American breast cancer patients younger than 40 years. PATIENTS AND METHODS:We retrospectively reviewed the records of 124 African American breast cancer patients younger than 40 years who were registered with the How...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1023/a:1022161629156
更新日期：2003-03-01 00:00:00
abstract：:About 15% of metastatic breast carcinoma patients are diagnosed with brain metastases. Historically, the majority are treated with palliative external whole-brain radiation with a median survival of 4 months. We examined stereotactic radiosurgery's effect on treatment outcome in such patients. Four hundred and fifty f...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1023/a:1006490200335
更新日期：2001-01-01 00:00:00
abstract：:The growth hormone and insulin-like growth factor (IGF) axis plays an essential role in the growth and development of the mammary gland. IGF1 and IGF1 receptor (IGF1R) may also play a role in the early transformation of mammary cells. Using a nested case-control design, the association between IGF1R expression in norm...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-010-1313-1
更新日期：2011-07-01 00:00:00
abstract：:Breast cancer is one of the most frequently diagnosed cancers in women in France, but its aetiology remains unknown. Viruses including Epstein-Barr virus (EBV), a human equivalent of murine mammary tumour virus (MMTV) and human papillomavirus (HPV) have been detected in benign breast tissues and breast tumours and are...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-007-9626-4
更新日期：2008-05-01 00:00:00
