Abstract:
BACKGROUND:The role of somatic BRCA1/2 gene mutations in breast cancer is getting increasing attention in view of hereditary disease. The medullary phenotype and triple negative intrinsic subtypes are often, but not exclusively encountered in BRCA1 germline mutated breast cancer, whilst for BRCA2, no association to specific histological features are known. In this study, we addressed the relationship between morphological medullary phenotype and BRCA1/2 somatic mutations in breast cancer without known positive family anamnesis. METHODS:32 clinically sporadic breast cancers with medullary features were analyzed for somatic BRCA1/2 mutations (all coding exons) with next-generation sequencing technology. Paraffin-embedded formalin-fixed breast cancer samples from all patients were analyzed. RESULTS:Three of 32 tumors (9%) had pathogenic (ARUP class-5) BRCA1 gene alterations. Two of these pathogenic variants exhibited deletions leading to frameshift mutations (p.Glu23fs, p.Val1234fs), and the remaining single-nucleotid-variant resulted in premature STOP codon (p.Glu60Ter). In one patient, the same pathogenic BRCA1 mutation was detected (p.Glu23fs) in normal breast tissue. Retrospective follow-up in two patients revealed a positive family history for breast cancer and consecutive germline mutation testing confirmed presence of BRCA1 mutations. No somatic pathogenic BRCA2 mutations were detected. CONCLUSIONS:BRCA1 mutation testing may be useful in clinically sporadic breast cancer patients with medullary features to identify potential mutation carriers independently from intrinsic molecular subtype. Formalin-fixed paraffin-embedded cancer tissue can undergo testing within a routine molecular-diagnostic setting as a clinical BRCA1/2 mutation screening strategy.
journal_name
J Cancer Res Clin Oncoljournal_title
Journal of cancer research and clinical oncologyauthors
Rechsteiner M,Dedes K,Fink D,Pestalozzi B,Sobottka B,Moch H,Wild P,Varga Zdoi
10.1007/s00432-018-2609-5subject
Has Abstractpub_date
2018-05-01 00:00:00pages
865-874issue
5eissn
0171-5216issn
1432-1335pii
10.1007/s00432-018-2609-5journal_volume
144pub_type
杂志文章abstract::A dose-response study was carried out in male F344 rats with a specific urinary bladder carcinogen, N-butyl-N-(4-hydroxybutyl)nitrosamine (BBN), which was administered as a solution in drinking water for up to 112 weeks. BBN was given in four different concentrations, 50, 10, 5, and 1 ppm, to groups of 30 rats. The hi...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/BF00390992
更新日期:1984-01-01 00:00:00
abstract:PURPOSE:The present study was undertaken to examine the amplification and expression status of Cks1 in breast cancer and its significance. METHODS:The amplification and expression status of Cks1 gene was examined by FISH, real-time PCR and immunohistochemistry, respectively. RNA interference was used to detect the eff...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章,收录出版
doi:10.1007/s00432-009-0582-8
更新日期:2009-10-01 00:00:00
abstract:PURPOSE:The study aim was to compare the disease control in two groups of patients affected by liver metastases from CRC treated with microwave ablation (MWA) or stereotactic body radiation therapy (SBRT). METHODS:We extracted data of patients treated between 2009 and 2016. Inclusion criteria were: (1) maximum diamete...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-018-2692-7
更新日期:2018-09-01 00:00:00
abstract::159 "poor risk" patients with previously untreated small cell lung cancer were entered into a randomised study of intravenous bolus versus continuous infusion chemotherapy with doxorubicin on weeks 1, 3, 5 and ifosfamide with mesna on weeks 2, 4, 6. Oral etoposide was given on days 1-5, 15-19, and 29-33. There was no ...
journal_title:Journal of cancer research and clinical oncology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF01613219
更新日期:1991-01-01 00:00:00
abstract:PURPOSE AND METHODS:Loss of heterozygosity (LOH) in a chromosomal location indicates the presence of an inactivated tumor suppressor gene (TSG). Inactivation of TSG has a functional role in the tumorigenesis of head and neck squamous cell carcinoma (HNSCC). Based on the recent evidences of a putative TSG on chromosome ...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-008-0423-1
更新日期:2008-12-01 00:00:00
abstract:BACKGROUND:Kaposiform hemangioendothelioma (KHE) is a locally aggressive vascular tumor that usually occurs in infants. It is commonly associated with Kasabach-Merritt phenomenon which is directly responsible for the significant morbidity and mortality, including hemodynamic instability, local invasion, and compression...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-013-1549-3
更新日期:2014-03-01 00:00:00
abstract:PURPOSE:In our previous publication, we have shown that dihydroartemisinin could significantly inhibit the growth of CML K562 cells by its anti-proliferative and inducing apoptotic effects. Given the pivotal effect of Bcr/Abl tyrosine kinase and its downstream signal factors on CML cell proliferation and survival, we e...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-012-1292-1
更新日期:2012-12-01 00:00:00
abstract:PURPOSE:Oxidative stress is considered a risk factor for prostate cancer development and is associated with the production of reactive oxygen species (ROS). The base excision repair gene MYH protects against ROS-mediated damage to DNA. Inherited MYH mutations predispose to colorectal adenomas and cancer. A compromised ...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-006-0181-x
更新日期:2007-06-01 00:00:00
abstract::The aim of this study was to correlate chemotherapy-induced nausea and vomiting (CINV) with commonly occurring single nucleotide polymorphisms (SNP) in the 5-hydroxytryptamine receptor 3 genes (HTR3). Women with breast cancer without previous chemotherapy were eligible for this prospective study. All patients received...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-008-0387-1
更新日期:2008-10-01 00:00:00
abstract:BACKGROUND:Triple negative breast cancer (TNBC) harbors a heterogeneous group of carcinomas with poor prognosis and high genetic variability. As a potential aim for targeted therapy, genetic mutations leading to an activation of the phosphoinositide 3-kinase pathway in a catalytic subunit (PIK3CA) in breast cancer have...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-019-02968-2
更新日期:2019-08-01 00:00:00
abstract:PURPOSE:To explore the value of Prostate Imaging Reporting and Data System Version 2 (PI-RADS v2) for predicting prostate biopsy results in patients with prostate specific antigen (PSA) levels of 4-10 ng/ml. METHODS:We retrospectively reviewed multi-parameter magnetic resonance images from 528 patients with PSA levels...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-018-2616-6
更新日期:2018-05-01 00:00:00
abstract::In 1989, 65%-75% of previously untreated adults with ALL or AML may be expected to enter complete remission. Approximately 40% of these completely responding patients, whether they are treated with intensive chemotherapy, intensive chemotherapy followed by autologous bone marrow transplantation, or allogeneic bone mar...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/BF01612646
更新日期:1990-01-01 00:00:00
abstract::The two hormone analogues octreotide and goserelin have been shown to decelerate growth of human pancreatic cancer in vitro and in vivo. The objective of this pilot study was to investigate the efficacy and toxicity of the combination of these two agents in patients with advanced pancreatic cancer. Octreotide was inje...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章,评审
doi:10.1007/BF01212614
更新日期:1997-01-01 00:00:00
abstract:PURPOSE:We sought to characterize the clinical features and management of patients diagnosed as Kaposiform hemangioendothelioma (KHE) without cutaneous involvement. METHODS:The electronic patient chats at six Triple A hospitals in China were searched to find all patient diagnoses with KHE without cutaneous involvement...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-018-2759-5
更新日期:2018-12-01 00:00:00
abstract:PURPOSE:Clinical trials have reported conflicting results as to whether taxane-based doublet improves outcome over single-agent taxane in patients with advanced breast cancer. METHODS:We performed a meta-analysis comparing primary and secondary end points of taxane-based doublet with single-agent taxane chemotherapy i...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章,meta分析
doi:10.1007/s00432-010-0967-8
更新日期:2011-06-01 00:00:00
abstract::Solitary fibrous tumors (SFT) of extremities, especially the thighs are very rare. Despite SFTs are generally benign, well-circumscribed soft tissue tumors new cases should be presented and followed up carefully to monitor their biological behavior. In general for tumor classification a biopsy is state of the art. His...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章,评审
doi:10.1007/s00432-005-0055-7
更新日期:2006-02-01 00:00:00
abstract::Some ellipticine derivative salts, including 9-chloro-2-methylellipticinium (CME), have been found to have a marked selectivity against all eight brain tumor cell lines of the U.S. National Cancer Institute's disease-oriented in vitro screen. We initiated in vivo antitumor studies to explore the feasibility for furthe...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s004320050128
更新日期:1998-01-01 00:00:00
abstract::Most changes of tumor suppressor p53 and its pathway involve a protein with prolonged half-life that permits immunohistochemical detection. The goal of this study was to compare the prognostic relevance of five different p53 antibodies in primary soft-tissue sarcomas (STS) with known p53 mutation status, using a multi...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/BF01192205
更新日期:1997-01-01 00:00:00
abstract:PURPOSE:Explore patient-reported outcomes (PROs), including health-related quality of life (HRQoL), satisfaction with therapy, impact of the therapy on work and daily life, and concerns related to the therapy and identify variables associated with PROs in persons with chronic myeloid leukemia (CML) receiving tyrosine k...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-017-2353-2
更新日期:2017-06-01 00:00:00
abstract::To examine the relationship between altered spontaneous mutation rates and malignant characteristics of cells, two hydroxyurea-resistant Chinese hamster ovary cell lines, with alterations in ribonucleotide reductase, were examined for their rates of spontaneous mutation to 6-thioguanine and ouabain resistance, tumor g...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/BF00393331
更新日期:1989-01-01 00:00:00
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journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-017-2561-9
更新日期:2018-02-01 00:00:00
abstract::The formation of foci with loss of ATPase and emergence of gamma-GTase was studied histochemically in livers of male and female Wistar and Sprague-Dawley rats of 3--4 and 6--7 weeks of age, respectively, after application of diethylnitrosamine. A single dose of 8 mg/kg body weight induced a considerable island formati...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/BF00403362
更新日期:1981-01-01 00:00:00
abstract:PURPOSE:Tumor grade is one of the more controversial factors with limited prognostic information in squamous cell carcinomas (SCC) of the uterine cervix. METHODS:Histologic slides of 233 surgically treated cervical SCC (FIGO IB1) were re-examined regarding the prognostic impact of the WHO-based grading system, using t...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-018-2793-3
更新日期:2019-02-01 00:00:00
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journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-020-03376-7
更新日期:2020-10-06 00:00:00
abstract:PURPOSE:There was no standard treatment for hepatocellular carcinoma with portal vein tumour thrombosis (PVTT). This prospective, randomised, two-arm clinical trial aims to investigate the feasibility, safety and effectiveness of transarterial chemoembolisation (TACE) combined with the endovascular implantation of an i...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00432-013-1568-0
更新日期:2014-02-01 00:00:00
abstract:PURPOSE:Abnormal expression of miRNAs is intimately related to a variety of human cancers. The purpose of this study is to confirm the expression of miR-181a and elucidate its physiological function and mechanism in pediatric acute myeloid leukemia (AML). METHODS:Pediatric AML patients and healthy controls were enroll...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-015-1995-1
更新日期:2016-01-01 00:00:00
abstract:CONTEXT:Parathyroid carcinoma (PC) is a rare endocrine malignancy with no approved systemic therapies for unresectable locally invasive or distant metastatic disease. Understanding the molecular changes in advanced PC can provide better understanding of this disease and potentially help directing targeted therapy. OBJ...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s00432-019-02945-9
更新日期:2019-08-01 00:00:00
abstract::Metabolic activation steps involved in carcinogenesis by several aromatic amines, their N-acetylated derivatives, and dialkylnitrosamines are reviewed. N-Hydroxylation is the first activation step in the carcinogenesis by 2-acetylaminofluorene (AAF), other aromatic amides and amines. The cytochrome P-450 enzyme system...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/BF00412448
更新日期:1981-01-01 00:00:00
abstract:PURPOSE:E- and P-selectins, expressed on vascular endothelium, and their sialyl-Lewis(x )(sLe(x))- and/or sialyl-Lewis(a) (sLe(a))-containing ligands have a crucial role in extravasation and metastasis of circulating cells. We wanted to analyse the role of selectins and their ligands in head and neck tumours. METHODS:...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/s004320050318
更新日期:1999-10-01 00:00:00
abstract::Sequential studies were made on the histopathologic changes in the glandular stomach of rats induced by a weak carcinogen. N-propyl-N'-nitro-N-nitrosoguanidine (PNNG). Fiftyfour rats were given 100 micrograms/ml of PNNG in their drinking water for 44 weeks, and then normal tap water until the end of the experiment. Ra...
journal_title:Journal of cancer research and clinical oncology
pub_type: 杂志文章
doi:10.1007/BF00405959
更新日期:1980-01-01 00:00:00