Abstract:
:The MSH6 gene is one of the mismatch repair genes involved in Lynch syndrome and its mutations account for 10-20% of Lynch syndrome. Although previous studies suggested that the difference of the geographical region affects the clinical phenotype of Lynch syndrome, there has been no report on the detailed features of Japanese Lynch syndrome patients carrying an MSH6 mutation. The aim of the present study was to investigate the clinical and molecular features of MSH6 mutation carriers in Japan. Surgically resected 1720 colorectal carcinoma specimens were screened by microsatellite instability (MSI) testing and the MSI-high cases were subjected to a germline mutation analysis of the mismatch repair genes MLH1, MSH2 and MSH6. We investigated the clinical and molecular features of the MSH6 variants, such as the family cancer history, pathological findings, immunohistochemistry, methylation status of the MLH1 promoter and BRAF mutation in the colorectal tumor. Furthermore, the impact of the missense variants on MSH6 protein was predicted by using in silico tools. We identified nine novel pathogenic mutations and eight unclassified missense variants. Among the eight missense variants, three were suspected pathogenic by in silico analysis. We also found that most colorectal cancers in the MSH6 mutation carrier were diagnosed after the age of 50 and were localized distally. Furthermore, the mean age at diagnosis of endometrial cancer in Japanese MSH6 mutation carriers (49.2 years) was earlier than previous reports from Western countries (56.5 years). These results may improve the surveillance program for Japanese MSH6 mutation carriers.
journal_name
Oncol Repjournal_title
Oncology reportsauthors
Terui H,Tachikawa T,Kakuta M,Nishimura Y,Yatsuoka T,Yamaguchi K,Yura K,Akagi Kdoi
10.3892/or.2013.2781subject
Has Abstractpub_date
2013-12-01 00:00:00pages
2909-16issue
6eissn
1021-335Xissn
1791-2431journal_volume
30pub_type
杂志文章相关文献
ONCOLOGY REPORTS文献大全abstract::Colorectal cancer (CRC) is a common gastrointestinal malignancy worldwide and is a lethal and aggressive malignancy with a dismal prognosis. EphrinB2 is a membrane-bound ligand and has an intracellular domain that also possesses an intrinsic signaling capacity called 'reverse signaling'. In the present study, CRC cell...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2014.3633
更新日期:2015-02-01 00:00:00
abstract::Oxymatrine, a traditional Chinese herb extracted from Sophora flavescens Ait., displays strong anti-inflammatory and anticancer activities, but how oxymatrine exhibits anticarcinogenic effects in human colorectal cancer (CRC) remains uncertain. The present study aimed to elucidate the exact mechanism by which oxymatri...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2016.4927
更新日期:2016-09-01 00:00:00
abstract::Tanshinone IIA (Tan‑IIA; C19H18O3) is derived from Danshen (the roots of Salvia miltiorrhiza), and has been reported to possess anti‑inflammatory and antioxidant activities. Tan‑IIA can inhibit BxPC‑3 human pancreatic cancer cells in vitro through inducing endoplasmic reticulum stress and apoptosis via mitochondrial p...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2018.6670
更新日期:2018-11-01 00:00:00
abstract::Protocadherin-10 (PCDH10), a member of non-clustered protocadherin family which plays important roles in calcium-dependent cell-cell signal transduction and adhesion. PCDH10 functions as a tumor suppressor gene and its expression is downregulated by promoter methylation in many malignances. In the present study, we ex...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2016.4793
更新日期:2016-07-01 00:00:00
abstract::It is well known that low-dose metronomic chemotherapy has antiangiogenic activity. The aim of the present trial was to investigate the antiangiogenic properties of weekly docetaxel in patients with metastatic breast cancer. In total, 157 metastatic breast cancer patients received 3...
journal_title:Oncology reports
pub_type: 临床试验,杂志文章
doi:10.3892/or.2011.1504
更新日期:2012-01-01 00:00:00
abstract::VBP-1 has been isolated as a novel protein binding to the von Hippel-Lindau (VHL) tumor suppressor gene product. The fundamental function of the gene was examined in the nematode, Caenorhabditis elegans (C. elegans). The C. elegans VBP-1 gene was expressed in adults only in the gonads and was also expressed in early s...
journal_title:Oncology reports
pub_type: 杂志文章
doi:
更新日期:2003-03-01 00:00:00
abstract::Lung cancer remains the leading cause of cancer-related mortality worldwide and non-small cell lung cancer (NSCLC) accounts for approximately 80-85% of all cases of lung cancer. Cisplatin plays a significant role in the management of human lung cancer. Translesion DNA synthesis (TLS) is involved in DNA damage repair. ...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2015.4121
更新日期:2015-09-01 00:00:00
abstract::The incidence of well‑differentiated thyroid cancer (WDTC) is rapidly increasing. Poor survival follows distant metastasis (DM) and recurrence. In the present study, we aimed to analyze the expression alterations in different stages of WDTC and the regulatory mechanism of DM and the recurrence of DM. A male patient di...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2018.6739
更新日期:2018-12-01 00:00:00
abstract::MicroRNA-374a (miR-374a) is involved in the progress of various types of cancer, and may indicate a poor prognosis. However, its role in esophageal cancer remains to be determined. In the present study, the role of miR-374a in esophageal cancers and cancer cell growth was examined using miR-374a overexpression and und...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2015.4182
更新日期:2015-10-01 00:00:00
abstract::Sarcosine is currently one of the most discussed markers of prostate cancer. It is involved in amino acid metabolism and methylation processes that occur during the progression of prostate cancer. In this study, we monitored the effect of the addition of sarcosine (0; 10; 250; 500; 1,000 and 1,500 µM) in a time-depend...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2013.2389
更新日期:2013-06-01 00:00:00
abstract::The S100A2 gene has been reported to be a putative tumor‑suppressor gene. Nevertheless, overexpression of S100A2 has been found in certain types of cancer. This study investigated S100A2 expression in tissue specimens of gastritis, intestinal metaplasia, adenomatous dysplasia and ga...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2013.2236
更新日期:2013-04-01 00:00:00
abstract::In the development and progression of cancer, tumor suppressor genes may be silenced by mechanisms such as methylation. Thus the discovery of new genes silenced by methylation may uncover new tumor suppressor genes, and improve our understanding of cancer biology. In this study we investigated the methylation of 19 ge...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or_00000325
更新日期:2009-04-01 00:00:00
abstract::The purpose of this study was to investigate the radioprotective effect of HGFs (GM-CSF, IL-3 and SCF) in irradiated human peripheral blood mononuclear cells (PBMCs) in vitro, and the survival effect of lethally irradiated C3H mice in vivo. The irradiation of human PBMCs using a (137)Cs irradiator showed a dose-depend...
journal_title:Oncology reports
pub_type: 杂志文章
doi:
更新日期:2005-06-01 00:00:00
abstract::Post‑transcriptional mechanisms are an important approach in the treatment of cancer, and may also be hijacked by tumor cells to help adapt to the local microenvironment. Filamin B (FLNB), an actin‑binding protein that provides crucial scaffolds for cell motility and signaling, has also been identified as an RNA‑bindi...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2020.7532
更新日期:2020-05-01 00:00:00
abstract::Telomerase activation is prevalent in most epithelial tumors, and may be a critical step in cellular immortalization and carcinogenesis. However, telomerase activity in tumors of mesenchymal origin is not well understood. In the present study, we examined telomerase activity in clinical samples from osteosarcoma and s...
journal_title:Oncology reports
pub_type: 杂志文章
doi:
更新日期:2004-06-01 00:00:00
abstract::The aim of this study was to evaluate whether the development of hepatocellular carcinoma (HCC) in murine models resembles tumor progression in humans, using non‑invasive molecular imaging methods. Murine HCC models were generated by treating mice with diethylnitrosamine (DEN) or by the transgenic expression of hepati...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2014.3575
更新日期:2015-01-01 00:00:00
abstract::The present study was performed to investigate the protective effects of tannic acid (TA) on liver injury induced by arsenic trioxide (ATO) and to elucidate the mechanism involved as related to the Kelch‑like ECH‑associated protein 1 (Keap1)‑nuclear factor erythroid 2‑related factor 2 (Nrf2)/antioxidant response eleme...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2020.7764
更新日期:2020-11-01 00:00:00
abstract::The BRAF T1799A mutation is a heterozygous point mutation and its reported prevalence in papillary thyroid carcinoma (PTC) has varied from 29 to 83%, with an overall mean of 44%. In Korea, the reported mutation rate reached 83% in PTC and 52% in micropapillary carcinoma. We hypothesized that the differences in prevale...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2011.1225
更新日期:2011-06-01 00:00:00
abstract::The classical pathway involving receptor activator of nuclear factor‑κB (RANK) and its ligand (RANKL) induces the activation of osteoclasts and the migration of a variety of tumor cells, including breast and lung cancer. In our previous study, the expression of RANK was identified on the surface of gastric cancer cell...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2018.6550
更新日期:2018-09-01 00:00:00
abstract::Increased production of reactive oxygen species (ROS) is a distinct feature of various types of cancer. ROS drive tumor progression and render cancer cells vulnerable to additional oxidative insult. The various natural herb compounds have been shown to induce additional production of ROS in cancer cells, although the ...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2018.6864
更新日期:2019-02-01 00:00:00
abstract::Nucleostemin (NS) plays an important role in tumorigenesis and progression. Most studies consider that NS plays its role through combining with p53 and inhibiting it, however our previous studies revealed that NS could also function without the existence of p53. To date, few studies have focused on the p53-independent...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2014.3240
更新日期:2014-08-01 00:00:00
abstract::Bcl-2 is overexpressed in various types of human tumors, including Burkitt's lymphoma, and it is involved in tumorigenesis and chemoresistance, therefore, it is regarded as a potential target of gene therapy. In this study, RNA interference using short hairpin RNA (shRNA)-mediated R...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2012.2081
更新日期:2013-01-01 00:00:00
abstract::The Bcl10 gene was recently isolated from the breakpoint region of t(1;14)(p22;q32) in mucosa-associated lymphoid tissue (MALT) lymphomas. Somatic mutations of Bcl10 were found in not only t(1;14)-bearing MALT lymphomas, but also a wide range of other tumors. To clarify the actual frequency and spectrum of Bcl10 mutat...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.8.6.1333
更新日期:2001-11-01 00:00:00
abstract::The tumor suppressor p53 is a transcription factor that induces the transcription of various target genes in response to DNA damage and it protects the cells from malignant transformation. In this study, we performed cDNA microarray analysis and found that the transmembrane protein containing sushi domain (TMPS) gene,...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or_00000972
更新日期:2010-11-01 00:00:00
abstract::Prostate and breast cancer overexpressed 1 (PBOV1) is significantly upregulated in prostate, breast and bladder cancer, while its expression status in ovarian cancer and its clinical significance are unclear. We examined the expression levels of PBOV1 mRNA and protein in ovarian cancer cell lines and primary tissues u...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2015.4396
更新日期:2016-01-01 00:00:00
abstract::ONECUT1 (HNF-6) is the prototype of a new class of homeodomain transcription factors, that controls the development of pancreatic ducts during mouse development. In the present study, the role of ONECUT1 and its targeted genes TCF2, PKHD1 and CYS1 was analyzed in human pancreatic ductal adenocarcinoma (PDAC). mRNA lev...
journal_title:Oncology reports
pub_type: 杂志文章
doi:
更新日期:2008-01-01 00:00:00
abstract::Intratumoral regions of low extracellular pH and low nutrition are common features of solid tumors. Although cancer cells normally die when they are removed from their environment, a small population of cells survive. In the present study, the subline LNCaP-F10, of the prostate canc...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2012.2039
更新日期:2012-12-01 00:00:00
abstract::Despite intense research in the field of breast cancer it still remains the most common cancer in women in the Western world. A decreasing trend in mortality was mainly achieved by improved early detection which led to an increased incidence of ductal carcinoma in situ (DCIS) of the breast. For the patient's prognosis...
journal_title:Oncology reports
pub_type: 杂志文章
doi:
更新日期:2003-11-01 00:00:00
abstract::Glioblastoma is the most common type of primary brain tumour in adults, and its pathogenesis is particularly complicated. Among the many possible mechanisms underlying its pathogenesis, hyperactivation of the PI3K/Akt pathway is essential to the occurrence and development of glioma through the loss of PTEN or somatic ...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2018.6845
更新日期:2019-01-01 00:00:00
abstract::Pancreatic cancer is one of the most fatal types of cancer and is associated with a dismal prognosis. Gemcitabine-based chemotherapy is clinically used for the treatment of advanced pancreatic cancer. However, many forms of pancreatic cancer have acquired resistance to gemcitabine. In order to prevent patients from su...
journal_title:Oncology reports
pub_type: 杂志文章
doi:10.3892/or.2017.6026
更新日期:2017-12-01 00:00:00