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 tested negative for all coding exons and intronic flanking regions of BRCA1/2 genes. Multiplex PCR-based assays were designed to cover the complete coding regions and flanking splicing sites of six genes implicated in HBOC. Sequencing was performed on HiSeq2500 Genome Analyzer. RESULTS:Overall, we identified 488 unique variants. We identified five patients (3.97%) that harbored pathogenic or likely pathogenic variants in four genes: ATM (1), CHEK2 (2), PALB2 (1), and TP53 (1). One hundred and thirty variants were classified as variants of uncertain significance (VUS), 10 of which were predicted to disrupt mRNA splicing (seven non-coding variants and three coding variants), while other six missense VUS were classified as probably damaging by prediction algorithms. CONCLUSION:A detailed mutational profile of non-BRCA genes is still being described in Brazil. In this study, we contributed to filling this gap, by providing important data on the diversity of genetic variants in a Brazilian high-risk patient cohort. ATM, CHEK2, PALB2 and TP53 are well established as HBOC predisposition genes, and the identification of deleterious variants in such actionable genes contributes to clinical management of probands and relatives.
journal_name
Breast Cancer Res Treatjournal_title
Breast cancer research and treatmentauthors
Gomes R,Spinola PDS,Brant AC,Matta BP,Nascimento CM,de Aquino Paes SM,Bonvicino CR,Dos Santos ACE,Moreira MAMdoi
10.1007/s10549-020-05985-9subject
Has Abstractpub_date
2020-10-30 00:00:00eissn
0167-6806issn
1573-7217pii
10.1007/s10549-020-05985-9pub_type
杂志文章abstract:BACKGROUND:Central nervous system (CNS) relapse is increasing in breast cancer. This increase may reflect altered failure patterns from adjuvant therapy, more effective systemic therapy with improved control in non-CNS sites, or a resistant breast cancer subtype. METHODS:To determine the factors associated with clinic...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-004-0999-3
更新日期:2004-12-01 00:00:00
abstract:PURPOSE:The purpose of this research was to generate recommendations on strategies to achieve patient-centered care (PCC) for ductal carcinoma in situ (DCIS). METHODS:Thirty clinicians (surgeons, medical/radiation oncologists, radiologists, nurses, navigators) who manage DCIS and 32 DCIS survivors aged 18 or older wer...
journal_title:Breast cancer research and treatment
pub_type: 共识发展会议,杂志文章,评审
doi:10.1007/s10549-019-05132-z
更新日期:2019-04-01 00:00:00
abstract::Heat shock protein 90 (Hsp90) facilitates maturation and stability of HER2. Combining an Hsp90 inhibitor and trastuzumab has demonstrated anti-tumor effects in patients with HER2+ breast cancer. Adults with measurable, locally advanced or metastatic HER2+ breast cancer and prior trastuzumab treatment were enrolled in ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,多中心研究
doi:10.1007/s10549-013-2510-5
更新日期:2013-05-01 00:00:00
abstract::The plasma urokinase-type plasminogen activator (uPA), plasminogen activator inhibitor-1 (PAI-1), and urokinase-type plasminogen activator receptor (uPAR) levels were measured in healthy volunteers and breast cancer patients. In pre-menopause healthy females, blood was sampled weekly during one menstruation cycle and ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1005997421733
更新日期:1998-05-01 00:00:00
abstract::The malignant biological behavior of breast cancer remains obscure on diagnostic images, although understanding the grade of such malignancy is important for selecting appropriate treatment. Therefore, malignancy grades in operable breast cancer were evaluated using positron emission tomography/computed tomography (PE...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,多中心研究
doi:10.1007/s10549-013-2687-7
更新日期:2013-09-01 00:00:00
abstract::Tamoxifen is currently the adjuvant treatment of choice for postmenopausal women with hormone-sensitive breast cancer. However, in the treatment of postmenopausal women with advanced disease, the third-generation aromatase inhibitor anastrozole ('Arimidex') has been shown to be at least as effective as tamoxifen, and ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
doi:10.1023/a:1025455130476
更新日期:2003-01-01 00:00:00
abstract:INTRODUCTION:Since older patients with breast cancer are underrepresented in clinical trials, an oncogeriatric approach is advocated to guide treatment decisions. However, the effect on outcomes is unclear. The aim of this study was to compare treatments and outcomes between patients treated in an oncogeriatric and a s...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-020-05860-7
更新日期:2020-11-01 00:00:00
abstract::Transforming Growth Factor-beta (TGF beta) is the most potent known inhibitor of the progression of normal mammary epithelial cells through the cell cycle. During the early stages of breast cancer development, the transformed epithelial cells appear to still be sensitive to TGF beta-mediated growth arrest, and TGF bet...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
doi:10.1023/a:1005865812918
更新日期:1997-08-01 00:00:00
abstract::Mammographic density is strongly associated with breast cancer risk. Inflammation is involved in breast carcinogenesis, perhaps through effects on mammographic density. We evaluated associations between inflammatory markers interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), and C-reactive protein (CRP) and mammogr...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-010-1249-5
更新日期:2011-06-01 00:00:00
abstract::This analysis was conducted to determine whether comorbid medical conditions predict additional breast cancer events and all-cause mortality in women with a history of early stage breast cancer. Women (n = 2,542) participating in a randomized diet trial completed a self-administered questionnaire regarding whether the...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,多中心研究
doi:10.1007/s10549-010-0732-3
更新日期:2010-08-01 00:00:00
abstract:BACKGROUND:There are concerns regarding local toxicity when IORT is applied in Asian women with a smaller breast volume than that of Western women. Trials are required to develop safety profiles for this technique. The aim of this trial was to evaluate acute toxicity after intra-operative radiotherapy (IORT) with low-e...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-018-5038-x
更新日期:2019-02-01 00:00:00
abstract::The use of molecular components from both normal and neoplastic breast tissue as markers for breast tumors has long been recognized as of major potential for breast cancer diagnosis, and has been an area of active research. Recent developments in immunological approaches have further stimulated this field by permittin...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF01806776
更新日期:1985-01-01 00:00:00
abstract::The activity of selective estrogen receptor modulators (SERMs) is not fully explained by an estrogen receptor (ER) switch model that simply turns estrogen activity on or off. A better understanding of the mechanisms involved in estrogen signaling and the development of drug resistance could help stratify patients into...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
doi:10.1007/s10549-009-0429-7
更新日期:2009-08-01 00:00:00
abstract::Afatinib is an oral, ErbB family blocker, which covalently binds and irreversibly blocks all kinase-competent ErbB family members. This phase II, open-label, single-arm study explored afatinib activity in human epidermal growth factor receptor 2 (HER2)-positive breast cancer patients progressing after trastuzumab trea...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,多中心研究
doi:10.1007/s10549-012-2003-y
更新日期:2012-06-01 00:00:00
abstract:BACKGROUND:The Van Nuys Prognostic Index (VNPI) is a simple score for predicting the risk of local recurrence (LR) in patients with Ductal Carcinoma In Situ (DCIS) conservatively treated. This score combines three independent predictors of Local Recurrence. The VNPI has recently been updated with the addition of age as...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
doi:10.1007/s10549-007-9668-7
更新日期:2008-06-01 00:00:00
abstract::The site of several lectin receptors in human mammary tumors and stroma was studied with the electron microscope. The advantage of the ultrastructural over light microscopic study was that lectin receptors could be localized with precision on the different cell types of the tumor and stroma. Eighteen human mammary car...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF01806482
更新日期:1984-01-01 00:00:00
abstract::Pathological complete response (pCR) is an important predictor of long-term survival in patients with breast cancer receiving neoadjuvant chemotherapy (NAC). At present, the accuracy of traditional radiological assessments during treatment in predicting pCR is poor. Unidimensional and 3D volumetric ultrasound measurem...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-011-1454-x
更新日期:2011-06-01 00:00:00
abstract::Fibroblast growth factor receptor 2 (FGFR2) is a member of a receptor tyrosine kinase gene superfamily, involved in cell growth, invasiveness, motility, and angiogenesis, which has attracted considerable attention as a candidate gene for breast cancer (BC) since it was first identified through genome-wide association ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,meta分析
doi:10.1007/s10549-012-2343-7
更新日期:2013-01-01 00:00:00
abstract:PURPOSE:Time to surgery (TTS) is a potentially modifiable factor associated with survival after breast cancer diagnosis and can serve as a proxy for quality of oncologic care coordination. We sought to determine whether factors associated with delays in TTS vary between patients who receive neoadjuvant systemic therapy...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-020-06012-7
更新日期:2020-11-18 00:00:00
abstract:PURPOSE:APOBEC3B belongs to the family of DNA-editing enzymes. A copy number variant targeting the genomic APOBEC3A-APOBEC3B locus has a significant impact on breast cancer risk, but the relative contribution of APOBEC3B is uncertain. In this study, we investigate a loss-of-function mutation that selectively targets AP...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,多中心研究
doi:10.1007/s10549-016-4100-9
更新日期:2017-02-01 00:00:00
abstract:BACKGROUND:Anastrozole, a new aromatase inhibitor, has been used to treat postmenopausal metastatic breast cancer, and several clinical trials of adjuvant treatment using this agent are ongoing. However, the effects of anastrozole on lipid metabolism are unknown. The aim of this study was to evaluate the effect of anas...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1020571617274
更新日期:2002-11-01 00:00:00
abstract::In epithelial-to-mesenchymal transition (EMT) epithelial cancer cells achieve mesenchymal features, essentially helping them to metastasize. There is some evidence that EMT could be increased in triple-negative (TNBC) or basal-like breast cancers, although more precise mechanisms considering e.g. EMT-regulating transc...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-013-2442-0
更新日期:2013-02-01 00:00:00
abstract:OBJECTIVE:This study examined the influence of knowledge of clinical information on the accuracy of mammography in women referred for investigation of breast symptoms. METHODS:Subjects were sampled from all women consecutively attending a symptomatic breast clinic and aged 25-55 years. This included all 240 women show...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/B:BREA.0000025416.66632.84
更新日期:2004-06-01 00:00:00
abstract::Circulating CA 15-3 antigen levels were evaluated in patients with benign diseases and breast cancer patients with no clinical evidence of disease after surgery (NED). Patients with breast cancer NED were followed for tumor recurrence or death during a median of 12.9 months (range 1 to 25 months). CA 15-3 and carcinoe...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF01806524
更新日期:1989-03-01 00:00:00
abstract::One of the most efficacious primary therapies in HER2-positive breast cancer was published by the M.D. Anderson group in 2005. This randomized trial evaluated the addition of trastuzumab to a taxane-anthracycline based chemotherapy. Despite largely significant differences in pathological complete response (pCR) in the...
journal_title:Breast cancer research and treatment
pub_type: 临床试验,杂志文章
doi:10.1007/s10549-012-2149-7
更新日期:2012-08-01 00:00:00
abstract:PURPOSE:To determine if response to endocrine therapy of breast cancer can be predicted by either a metabolic "flare reaction" detected by positron emission tomography (PET) with 2-[(18)F]-fluoro-2-deoxyglucose (FDG), induced by an estradiol challenge, or by estrogen-receptor (ER) status, determined by PET with the est...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-008-9953-0
更新日期:2009-02-01 00:00:00
abstract:PURPOSE:The aim of this study was to investigate whether young age at onset of breast cancer is an independent prognostic factor in patients from the Japanese Breast Cancer Registry, after adjustment of known clinicopathological prognostic factors. METHODS:Of the 53,670 patients registered between 2004 and 2006 and su...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-016-3984-8
更新日期:2016-11-01 00:00:00
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::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::In contrast to antigen-specific alphabeta-T cells (adaptive immune system), gammadelta-T cells can recognize and lyse malignantly transformed cells almost immediately upon encounter in a manner that does not require the recognition of tumor-specific antigens (innate immune system). Given the well-documented capacity o...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-009-0527-6
更新日期:2010-07-01 00:00:00