Abstract:
:The contribution of BRCA1 and BRCA2 to breast cancer incidence in Brazil has not yet been explored. In order to estimate the proportion of breast cancers due to BRCA1 and BRCA2 mutations in Brazil, we conducted a study of unselected breast cancer patients from Rio de Janeiro, Brazil. We enrolled 402 women with breast cancer from a large public hospital and two private medical clinics in the city. A detailed family history was obtained from each patient and a blood sample was obtained for DNA analysis. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques, but all mutations were confirmed by direct sequencing. Overall, nine mutations were identified (six in BRCA1 and three in BRCA2) representing 2.3% of the total. The most common mutation, 5382insC in BRCA1, was seen five times and accounted for 56% of all identified mutations. A second mutation, in BRCA2 (6633del5) was seen in two unrelated women. In summary, BRCA1 and BRCA2 mutations are not uncommon in Brazilian women with breast cancer. It appears that a small number of founder mutations may be predominant. Moreover, a small number of founder mutations may be prevalent in Brazil, raising the possibility that a rapid and inexpensive genetic test may be developed to screen for inherited susceptibility to breast cancer in Brazil.
journal_name
Breast Cancer Res Treatjournal_title
Breast cancer research and treatmentauthors
Gomes MC,Costa MM,Borojevic R,Monteiro AN,Vieira R,Koifman S,Koifman RJ,Li S,Royer R,Zhang S,Narod SAdoi
10.1007/s10549-006-9378-6subject
Has Abstractpub_date
2007-07-01 00:00:00pages
349-53issue
3eissn
0167-6806issn
1573-7217journal_volume
103pub_type
杂志文章abstract::Invasion factors uPA/PAI-1 are guideline-recommended (ASCO, AGO) biomarkers for decision support regarding adjuvant chemotherapy (CTX) in women with primary breast cancer. They define a high-risk group with strong benefit from adjuvant CTX and a low-risk group with uncertain benefit and excellent survival without CTX....
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10549-013-2496-z
更新日期:2013-04-01 00:00:00
abstract::We determined the expression of two transcriptional variants of thyroid hormone receptor alpha (THRα1 and THRα2) in samples from a cohort of breast cancer patients and correlated expression levels with survival. 130 women who were diagnosed with invasive breast carcinoma between 2007 and 2008 were included. Representa...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-014-3235-9
更新日期:2015-01-01 00:00:00
abstract:PURPOSE:CIPN is a common, debilitating, and dose-limiting side effect of chemotherapy. Here, we describe characteristics of patients with CIPN using both patient-reported outcomes (PRO) and quantitative sensory testing (QST). METHODS:Breast cancer survivors with persistent moderate to severe CIPN defined by a rating o...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-019-05416-4
更新日期:2019-12-01 00:00:00
abstract::The purpose of the study was to compare breast-conserving therapy (BCT) and mastectomy (M) in BRCA1/2 mutation carriers. Women with invasive breast cancer and a pathogenic mutation in BRCA1 or BRCA2 were included in the study (n = 162). Patients treated with BCT (n = 45) were compared with patients treated with M (n =...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-014-3115-3
更新日期:2014-10-01 00:00:00
abstract::Transforming growth factor-beta (TGFB) is a potent inhibitor of normal epithelial cell proliferation, and may be one of the regulatory factors that are perturbed during tumor development. While many tumor cell lines no longer respond to the inhibitory effects of TGFB due to a reduction or absence of the type II recept...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1023918026437
更新日期:2003-05-01 00:00:00
abstract::One in six primary human breast cancers has DNA amplification centered on the cyclin D1 gene (CCND1) on chromosome 11q13. This genetic abnormality is preferentially associated with estrogen-receptor positive tumors and may define a sub-class of patients with an adverse prognosis. Although CCND1 has the credentials of ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
doi:10.1007/BF00682720
更新日期:1995-01-01 00:00:00
abstract::A detailed analysis of the immune system response has been performed during the development and progression of dimethylbenz(a)anthracene (DMBA)-induced rat mammary tumors. For this aim, a number of immune parameters (thymocyte and splenocyte proliferative response to T-dependent mitogens, antibody production, lymphocy...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF00665692
更新日期:1993-09-01 00:00:00
abstract::The purpose of the study was to evaluate the use of metabolic phenotype, described by high-resolution magic angle spinning magnetic resonance spectroscopy (HR MAS MRS), as a tool for prediction of histological grade, hormone status, and axillary lymphatic spread in breast cancer patients. Biopsies from breast cancer (...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-006-9400-z
更新日期:2007-08-01 00:00:00
abstract::The aim of this study is to identify and validate copy number aberrations in early-stage primary breast tumors associated with bone or non-bone metastasis. Whole-genome molecular inversion probe arrays were used to evaluate copy number imbalances (CNIs) in breast tumors from 960 early-stage patients with information a...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-013-2796-3
更新日期:2014-01-01 00:00:00
abstract:PURPOSE:To examine the association between breast cancer risk factors and second primary cancers (independent diagnoses occurring at least 12 months after the initial breast cancer diagnosis) among breast cancer survivors. METHODS:In this population-based study, cancer outcomes among breast cancer survivors first diag...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-006-9446-y
更新日期:2007-10-01 00:00:00
abstract:PURPOSE:Body composition parameters including low muscle mass, muscle attenuation (which reflects muscle quality) and adipose tissue measurements have emerged as prognostic factors in cancer patients. However, knowledge regarding the possibility of excessive muscle loss during specific systemic therapies is unknown. We...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-017-4574-0
更新日期:2018-02-01 00:00:00
abstract:PURPOSE:Androgen receptor (AR) and AR signaling pathways are thought to play a role in breast cancer (BC) and are potentially related to treatment responses and outcomes. Ankyrin 3 (ANK3) is associated with AR stability in cancer cells. In the present study, we investigated the clinicopathological utility of ANK3 expre...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-019-05216-w
更新日期:2019-07-01 00:00:00
abstract::Stearoyl-CoA desaturase 1 (SCD1) is an essential regulator of fatty acid synthesis. We have previously shown that overexpression of SCD1 increases the growth of breast cancer cell lines. The purpose of this study was to determine the relationship between SCD1 expression level and clinical-pathologic characteristics an...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-012-2354-4
更新日期:2013-01-01 00:00:00
abstract::The aim of this study was to evaluate the difference in outcomes based on p53 overexpression of patients with breast cancer who received adjuvant therapy following local treatment for invasive ductal carcinoma, not otherwise specified. We analyzed data from 4,683 patients with cancer enrolled in two institutions betwe...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,多中心研究
doi:10.1007/s10549-009-0560-5
更新日期:2010-06-01 00:00:00
abstract::Elevated body weight is a risk factor for postmenopausal breast cancer and is associated with increased incidence of spontaneous and chemically induced mammary tumors (MTs) in rodents. In this study, genetically obese Lep(ob)Lep(ob) female mice that overexpress human TGF-alpha (transforming growth factor-alpha) were u...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1021891825399
更新日期:2003-02-01 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::Aberrant expressions of the neuronal protein synuclein gamma (SNCG) in malignant mammary epithelial cells are strongly associated with the progression of breast cancer. SNCG is not expressed in normal breast tissues but abundantly expressed in a high percentage of invasive and metastatic breast carcinomas. Several stu...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-005-6938-0
更新日期:2005-11-01 00:00:00
abstract:PURPOSE:Preoperative paravertebral blocks (PPVBs) are routinely used for treating post-mastectomy pain, yet uncertainties remain about the cost-effectiveness of this modality. We aim to evaluate the cost-effectiveness of PPVBs at common willingness-to-pay (WTP) thresholds. METHODS:A decision analytic model compared tw...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
doi:10.1007/s10549-017-4371-9
更新日期:2017-10-01 00:00:00
abstract::Advances in the understanding of the molecular basis of breast cancer have necessitated a definition of more sensitive and specific indicators of prognosis that are central to the underlying cancer biology and that reflect the complicated and heterogeneous nature of the disease. This study investigates the expression ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-011-1813-7
更新日期:2012-06-01 00:00:00
abstract:PURPOSE:The receptor activator of nuclear factor kappa B (RANK)/RANK ligand (RANKL)/osteoprotegerin (OPG) axis may contribute to the development of bone metastases (BM). We studied gene expression in this pathway in primary breast cancer (BC) to determine correlations with clinical characteristics and outcomes in the n...
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/s10549-017-4318-1
更新日期:2017-08-01 00:00:00
abstract:PURPOSE:Primary chemotherapy is commonly used in patients with breast cancer to downstage the primary tumour prior to surgery. There is a need to establish, prior to commencement of chemotherapy, predictors of clinical and pathological response, which may then be surrogate markers for patient survival and thus allow id...
journal_title:Breast cancer research and treatment
pub_type: 临床试验,杂志文章
doi:10.1023/B:BREA.0000032986.00879.d7
更新日期:2004-07-01 00:00:00
abstract::Resistance of breast cancers to targeted hormone receptor (HR) or human epidermal growth factor receptor 2 (HER2) inhibitors often occurs through dysregulation of the phosphoinositide 3-kinase, protein kinase B/AKT/mammalian target of rapamycin (PI3K/AKT/mTOR) pathway. Presently, no targeted therapies exist for breast...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-014-2877-y
更新日期:2014-04-01 00:00:00
abstract::Human mammary epithelial antigens (HME-Ags) are released into the circulation by breast tumors and not by normal breast tissue (Proc. Natl. Acad. Sci. USA 74: 582-586, 1977). This characteristic made them valuable, together with other breast cancer related antigens later identified, to develop immunoassays useful in t...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF01806353
更新日期:1990-05-01 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::The 2008 Physical Activity (PA) Guidelines recommend engaging in at least 2.5 h (10 MET-hours/week) of moderate intensity PA per week (defined as 4 METs) to reduce risk of morbidity and mortality. This analysis was conducted to investigate whether this recommendation can be extended to breast cancer survivors. Data fr...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-011-1770-1
更新日期:2012-01-01 00:00:00
abstract::Mammography and ultrasound are often used concurrently for patients with palpable breast masses. While mammography has a false-negative rate of approximately 15 %, the addition of breast ultrasound decreases this rate among patients with palpable breast masses. There are no recent outcome data regarding the use of com...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-015-3557-2
更新日期:2015-10-01 00:00:00
abstract:BACKGROUND:We have constructed anti-HER2 immunoliposomes containing magnetite nanoparticles (HML) that generate heat in an alternating magnetic field (AMF). The effective targeting and cytocidal abilities of HML have been achieved using cell culture models. This study aimed to investigate feasibility of this modality f...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-008-9948-x
更新日期:2009-02-01 00:00:00
abstract:PURPOSE:This study investigates weight trajectories in pre- versus postmenopausal breast cancer (BC) survivors diagnosed with hormone receptor-positive tumors, with a specific focus on discerning menopausal status and type of endocrine treatment (ET) as risk factors for weight gain during ET. METHODS:We conducted a re...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-017-4501-4
更新日期:2018-01-01 00:00:00
abstract::Over the last several years, evidence has accumulated to support the idea that rare Ha-ras polymorphisms are associated with inherited susceptibility to certain human cancers. A recent epidemiologic study conducted at our institution found a significant association specifically with breast cancer, although the mechani...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF00694750
更新日期:1995-07-01 00:00:00
abstract::Heregulin (HRG) and 17beta-estradiol (E2) interactions that modulate growth of breast cancer cell lines have recently been demonstrated. We examined the ability of heregulin beta1 (HRGbeta1) and 17beta-estradiol to modulate the biological behavior of estrogen receptor (ER) negative human breast cancer cell lines (AU-5...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1006035603635
更新日期:1998-09-01 00:00:00