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 suspected HBOC families from several countries. Whereas the c.156_157insAlu BRCA2 mutation was detected in 11 of 149 suspected HBOC families from Portugal, representing 37.9% of all deleterious mutations, in other countries it was detected only in one proband living in France and in four individuals requesting predictive testing living in France and in the USA, all being Portuguese immigrants. After performing an extensive haplotype study in carrier families, we estimate that this founder mutation occurred 558 ± 215 years ago. We further demonstrate significant quantitative differences regarding the production of the BRCA2 full length RNA and the transcript lacking exon 3 in c.156_157insAlu BRCA2 mutation carriers and in controls. The cumulative incidence of breast cancer in carriers did not differ from that of other BRCA2 and BRCA1 pathogenic mutations. We recommend that all suspected HBOC families from Portugal or with Portuguese ancestry are specifically tested for this rearrangement.
journal_name
Breast Cancer Res Treatjournal_title
Breast cancer research and treatmentauthors
Peixoto A,Santos C,Pinheiro M,Pinto P,Soares MJ,Rocha P,Gusmão L,Amorim A,van der Hout A,Gerdes AM,Thomassen M,Kruse TA,Cruger D,Sunde L,Bignon YJ,Uhrhammer N,Cornil L,Rouleau E,Lidereau R,Yannoukakos D,Pertesi Mdoi
10.1007/s10549-010-1036-3subject
Has Abstractpub_date
2011-06-01 00:00:00pages
671-9issue
3eissn
0167-6806issn
1573-7217journal_volume
127pub_type
杂志文章abstract：:Breast cancer has been the most common malignant tumor among women in many large cities of China. The aim of this study was to clarify the prognostic significance of serum anti-p53 antibodies (p53 Abs) in Chinese patients of breast cancer. One hundred and forty-four patients with invasive ductal carcinoma of breast we...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-005-4321-9
更新日期：2005-09-01 00:00:00
abstract：PURPOSE:This project was undertaken to examine the association between dietary intake of soy or cruciferous vegetables and breast cancer treatment-related symptoms among Chinese-American (CA) and Non-Hispanic White (NHW) breast cancer survivors. METHODS:This cross-sectional study included 192 CA and 173 NHW female bre...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-017-4578-9
更新日期：2018-04-01 00:00:00
abstract：:While many reports describe health-related quality of life (QOL) among breast cancer survivors, few compare QOL before and after diagnosis and whether changes in QOL substantially differ from changes experienced by all women during aging. QOL was examined in a cohort of female residents of Beaver Dam, Wisconsin, aged ...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-007-9653-1
更新日期：2008-05-01 00:00:00
abstract：PURPOSE:Psychological resilience is an important ability for women with breast cancer to cope effectively with depression and anxiety. However, the demands of long-term hospital-based psychological rehabilitation interventions are not met in mainland China, where shorter hospital stays and longer home rehabilitation ar...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-019-05368-9
更新日期：2019-11-01 00:00:00
abstract：:Breast cancer cells (BCC) frequently metastasize to bone where they may cause tumor-induced osteolysis (TIO). While the important eroding role of the osteoclasts in TIO is well admitted, the possibility that BCC and/or osteoblasts activated by tumoral factors could also directly degrade bone matrix in this pathology h...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1023/a:1006408916224
更新日期：2000-05-01 00:00:00
abstract：:The association of CYP19 gene polymorphisms with breast cancer has been widely reported, but results of previous studies were somewhat contradictory and underpowered. In order to overcome the limitations of individual study and to understand the real situation, we conducted a systematic review and meta-analysis includ...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章,meta分析,评审
doi：10.1007/s10549-009-0693-6
更新日期：2010-07-01 00:00:00
abstract：:Addition of epirubicin to adjuvant chemotherapy can provide important benefits for patients with early breast cancer, but the optimal dose remains unclear. Further improvements can be achieved with dose-dense regimens, but densification of fluorouracil/epirubicin/cyclophosphamide (FEC) has proved difficult, with FEC(6...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章,随机对照试验
doi：10.1007/s10549-008-9894-7
更新日期：2008-12-01 00:00:00
abstract：:Methylthioadenosine (MTA) phosphorylase activity was measured in 47 biopsies from primary breast cancers (n = 34) and metastatic tumors (n = 13). Most specimens were also evaluated by DNA flow cytometry and determination of estrogen and progesterone receptor contents. Median MTA phosphorylase activity was 317 pmol/mg ...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/BF01806694
更新日期：1987-01-01 00:00:00
abstract：:A major goal of cancer chemotherapy is the identification of cytotoxic compounds that are highly selective for cancer cells. We describe here one such compound - a novel iron chelator, desferri-exochelin 772SM. This desferri-exochelin has unique chemical and pharmacological properties, including extremely high iron bi...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1023/a:1012211828319
更新日期：2001-09-01 00:00:00
abstract：:This study analyzes the relationship between coxsackie-adenovirus receptor (CAR) expression (transmembrane and soluble isoforms) and hormone sensitivity in 95 breast cancers. Furthermore, prognostic significance of the expression of the various CAR isoforms was investigated. In addition, inducibility of CAR expression...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-008-0108-0
更新日期：2009-07-01 00:00:00
abstract：PURPOSE:The independent predictive information from progesterone receptor (PgR) positivity for breast cancer treated with tamoxifen has been questioned after an overview by the Early Breast Cancer Trialists' Collaborative Group (EBCTCG). However, the studies in the overview were to a large content performed before mode...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-016-4007-5
更新日期：2016-11-01 00:00:00
abstract：:This prospective study assessed the endometrial effects of fulvestrant, a pure estrogen-receptor antagonist, in postmenopausal women with breast cancer. This single-center study enrolled postmenopausal patients who had an intact uterus at baseline with progressive metastatic breast cancer on tamoxifen followed by an o...
journal_title：Breast cancer research and treatment
pub_type： 临床试验,杂志文章
doi：10.1007/s10549-008-0248-2
更新日期：2009-09-01 00:00:00
abstract：:Complete remissions in patients with metastatic breast cancer using endocrine therapy or chemotherapy are infrequent. Breast tumors are known to be heterogeneous with respect to estrogen receptor status, and the low complete remission rate may be related to this biochemical heterogeneity. Based on laboratory experimen...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/BF01805721
更新日期：1982-01-01 00:00:00
abstract：:The tumor-stroma ratio has previously been shown to be prognostic for patients with invasive breast cancer. We present a validation study to assess the prognostic significance in lymph node-negative, premenopausal patients from the perioperative chemotherapy trial (POP trial, 10854) conducted by the European Organizat...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-013-2571-5
更新日期：2013-06-01 00:00:00
abstract：PURPOSE:Homologous recombination (HR)-deficient breast tumors may have genomic alterations that predict response to treatment with PARP inhibitors and other targeted therapies. METHODS:Comprehensive molecular profiles of 4647 breast tumors performed at Caris Life Sciences using 592-gene NGS were reviewed to identify s...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-020-05849-2
更新日期：2020-11-01 00:00:00
abstract：:This review will focus on the role of sphingosine and its phosphorylated derivative sphingosine-1-phosphate (SPP) in cell growth regulation and signal transduction. We will show that many of the effects attributed to sphingosine in quiescent Swiss 3T3 fibroblasts are mediated via its conversion to SPP. We propose that...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章,评审
doi：10.1007/BF00666166
更新日期：1994-01-01 00:00:00
abstract：:While it has been demonstrated that prophylactic mastectomy reduces breast cancer incidence among women at high risk, many women often consider this disfiguring surgery unacceptable. One alternative approach may be breast reduction surgery. In order to evaluate the long-term incidence of breast cancer following surgic...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-005-9099-2
更新日期：2006-05-01 00:00:00
abstract：:In this prospective study, the authors examined 50 patients with breast tumors (malignant, n = 32; benign, n = 18) to investigate the correlation between color Doppler flow mapping and histopathological findings and to evaluate the clinical significance of color Doppler mapping. Among the 32 patients with breast cance...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/BF01806510
更新日期：1996-01-01 00:00:00
abstract：:Prevention and early detection of breast cancer are the major prophylactic measures taken to reduce the breast cancer related mortality and morbidity. Clinical management of breast cancer largely relies on the efficacy of the breast-conserving surgeries and the subsequent radiation therapy. A key problem that limits t...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-010-0914-z
更新日期：2011-04-01 00:00:00
abstract：PURPOSE:To examine the association of plasma carotenoids, micronutrients in fruits, and vegetables, with risk of premalignant breast disease (PBD) in younger women. METHODS:Blood samples were collected at the Siteman Cancer Center between 2008 and 2012 from 3537 women aged 50 or younger with no history of cancer or PB...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-017-4152-5
更新日期：2017-04-01 00:00:00
abstract：:Tamoxifen is the widespread anti-hormonal compound used for the treatment of human breast cancer. It is admitted that its effects are mediated via estrogen receptors (ER) but the molecular basis of its activity has yet to be clearly defined. In this work, we have developed a new image cytometry procedure in order to c...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/BF01806634
更新日期：1996-01-01 00:00:00
abstract：:An association between hormone receptors in primary breast cancer and obesity determined prior to mastectomy was investigated in 128 Japanese women. The following criteria for obesity were used: (1) weight greater than or equal to 60 kg (132 lbs), (2) weight kg/height cm-105 greater than or equal to 1.3, (3) weight lb...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/BF01805867
更新日期：1981-01-01 00:00:00
abstract：PURPOSE:Nutritional factors during different periods in life impact breast cancer risk. Because benign breast disease (BBD) is a well-established risk factor for breast cancer, we investigated childhood nutrition from birth through age 14 year and subsequent BBD. METHODS:A prospective cohort study of 9031 females, 9-1...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-019-05323-8
更新日期：2019-09-01 00:00:00
abstract：:Cell-mediated immune (CMI) responses to tumor-associated antigens (TAA) in the early postoperative period were examined for correlations with disease recurrence and survival in a 13-year-prospective study of 77 stage 1 and 2 breast cancer patients treated with modified radical or radical mastectomy alone. Among the 21...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1023/a:1006405504158
更新日期：2000-04-01 00:00:00
abstract：PURPOSE:Breast tumors from young women under the age of 40 account for approximately 7% of cases and have a poor prognosis independent of established prognostic factors. We evaluated the patient population served by the Military Health System, where a disproportionate number of breast cancer cases in young women are se...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-017-4615-8
更新日期：2018-04-01 00:00:00
abstract：PURPOSE:Triple-negative breast cancer (TNBC) has aggressive characteristics and fewer treatment options than other subtypes. The purpose of this study was to explore prognostic biomarkers for TNBC that can be easily detected from the blood samples. METHODS:MDA-MB-231 and MDA-MB-231BR, a brain metastatic variant of the...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-016-4057-8
更新日期：2017-01-01 00:00:00
abstract：INTRODUCTION:Breast cancer (BC) is the leading cause of cancer death in Caribbean women. Across the Caribbean islands, the prevalence of hereditary breast cancer among unselected breast cancer patients ranges from 5 to 25%. Moreover, the prevalence of BC among younger women and the high mortality in the Caribbean regio...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-018-5045-y
更新日期：2019-04-01 00:00:00
abstract：PURPOSE:Mitochondrial unfolding protein are abundant in breast cancer cells, but the mechanism by which breast cancer cells resist apoptosis is still not fully elucidated. In this study, we explored the role of mitochondrial unfolded protein response (mtUPR)-related proteins in four types of breast cancer tissues. MET...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-020-05729-9
更新日期：2020-08-01 00:00:00
abstract：:Prognostication of breast cancer patients, not operated at diagnosis, poses a clinically difficult problem. To use gene amplification we examined cytological samples and determined c-erb-B2 gene copy number with semi-quantitative PCR. Control experiments showed the same gene-copy number in aliquots that were either ai...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/BF01806188
更新日期：1996-01-01 00:00:00
abstract：:The androgen receptor (AR) is a transcription factor mediating the action of androgens. The AR gene is localized on chromosome X and it contains a series of CAG trinucleotide repeats. The length of the CAG repeats varies among individuals and this polymorphism is believed to be related to AR transcriptional activity. ...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1023/a:1006356502820
更新日期：2000-01-01 00:00:00
