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Niels De Wind - One of the best experts on this subject based on the ideXlab platform.
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a cell free assay for the functional analysis of variants of the mismatch repair protein mlh1
Human Mutation, 2010Co-Authors: Mark Drost, Jos E B M Zonneveld, Linda Van Dijk, Juul T. Wijnen, Hans Morreau, Hans F. A. Vasen, Carli M. J. Tops, Niels De WindAbstract:The hereditary colon and Endometrium Cancer predisposition Lynch Syndrome (also called HNPCC) is caused by a germ-line mutation in one of the DNA mismatch repair (MMR) genes. A significant fraction of the gene alterations detected in suspected Lynch Syndrome patients is comprised of amino acid substitutions. The relevance for Cancer risk of these variants is difficult to assess, as currently no time- and cost-effective, validated, and widely applicable functional assays for the measurement of MMR activity are available. Here we describe a rapid, cell-free, and easily quantifiable MMR activity assay for the diagnostic assessment of variants of the MLH1 MMR protein. This assay allows the parallel generation and functional analysis of a series of variants of the MLH1 protein in vitro using readily available, or preprepared, reagents. Using this assay we have tested 26 MLH1 variants and of these, 15 had lost activity. These results are in concordance with those obtained from first-generation assays and with in silico and pathology data. After its multifocal technical and clinical validation this assay could have great impact for the diagnosis and counseling of carriers of an MLH1 variant and their relatives. Hum Mutat 30:1–7, 2010. © 2010 Wiley-Liss, Inc.
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a cell free assay for the functional analysis of variants of the mismatch repair protein mlh1
Human Mutation, 2010Co-Authors: Mark Drost, Jos E B M Zonneveld, Juul T. Wijnen, Hans Morreau, Hans F. A. Vasen, Carli M. J. Tops, Linda Van Dijk, Niels De WindAbstract:The hereditary colon and Endometrium Cancer predisposition Lynch Syndrome (also called HNPCC) is caused by a germ-line mutation in one of the DNA mismatch repair (MMR) genes. A significant fraction of the gene alterations detected in suspected Lynch Syndrome patients is comprised of amino acid substitutions. The relevance for Cancer risk of these variants is difficult to assess, as currently no time- and cost-effective, validated, and widely applicable functional assays for the measurement of MMR activity are available. Here we describe a rapid, cell-free, and easily quantifiable MMR activity assay for the diagnostic assessment of variants of the MLH1 MMR protein. This assay allows the parallel generation and functional analysis of a series of variants of the MLH1 protein in vitro using readily available, or preprepared, reagents. Using this assay we have tested 26 MLH1 variants and of these, 15 had lost activity. These results are in concordance with those obtained from first-generation assays and with in silico and pathology data. After its multifocal technical and clinical validation this assay could have great impact for the diagnosis and counseling of carriers of an MLH1 variant and their relatives.
Ebru Erdemoğlu - One of the best experts on this subject based on the ideXlab platform.
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Incidence of suspicious axillary lymph node involvement in fluorine-18 fluoro-D-glucose positron emission tomography/computed tomography in gynecologic Cancers.
Turkish journal of obstetrics and gynecology, 2018Co-Authors: Jalal Raoufi, Ebru Erdemoğlu, Sevim Süreyya Çerçi, Serhan Can İşcan, Candost Hanedan, Emine Elif OzkanAbstract:Objective There is scarce information about axillary lymph node involvement in gynecologic Cancers. We analyzed the incidence of suspicious axillary lymph nodes in gynecologic Cancers. Materials and Methods We retrospectively analyzed the positron emission tomography/computed tomography findings of 251 patients with endometrial, cervical, and ovarian Cancer. There is no cut-off value documented for axillary metastases from gynecologic Cancers; therefore we adopted the cut-off standardized uptake values (SUVs) proclaimed in breast Cancer. Results A total of 251 patients records were available for analysis; 40 patients (15.9%) with suspicious axillary lymph nodes were included in the study. Twenty-one and a half percent (n=20/93) of patients with Endometrium Cancer, 14.1% (n=14/99) of patients with ovarian Cancer, and 10% (n=6/59) of those with cervical Cancer had suspicious axillary lymph nodes. Patients with an maximum SUV (SUVmax) uptake higher than 3 underwent axillary lymph node biopsy. None of them was found to have axillary metastases of gynecologic Cancers in the pathologic evaluation. In one patient with endometrial Cancer, an obscure breast ductal carcinoma was diagnosed, another patient with endometrial Cancer was found to have follicular lymphoma. The third patient with endometrial Cancer had no malignancy in axillary lymph node biopsy, but had Hurthle cell neoplasia in a thyroid biopsy; the patient did not accept any surgical or medical treatment for endometrial Cancer and died 23 months later. There were three (7.5%) metachronous Cancers out of 40 gynecologic Cancers; two patients were explained above, the third patient with Endometrium Cancer, who was not histopathologically evaluated although the axillary SUVmax was
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Role of positron emission tomography-computed tomography in endometrial Cancer.
Turkish journal of obstetrics and gynecology, 2017Co-Authors: Yakup Yalçın, Ebru Erdemoğlu, Sevim Süreyya Çerçi, Burak TatarAbstract:Objective The efficacy of preoperative 18F-fluoro-D-glucose (18F-FDG) positron emission tomography-computed tomography (PET-CT) in Endometrium Cancer is controversial. We examined the efficacy of PET-CT and the association between maximum standardized uptake value (SUVmax) and prognostic factors in endometrial Cancer. Materials and methods Thirty patients with endometrial Cancer underwent preoperative 18F-FDG/PET-CT. The patients were treated with abdominal hysterectomy with bilateral salpingo-oophorectomy, and bilateral systemic pelvic lymphadenectomy was planned for all patients; paraaortic lymphadenectomy was performed in patients with intermediate and high risk. Tumor histology, grade, depth of myometrial invasion, maximum tumor diameter, lymphovascular invasion, nodal status, and ovarian/adnexal metastases were recorded. Results The mean primary tumor diameter was reported smaller in PET-CT and the effect size of PET-CT was -0.60. The kappa value was 0.06 for myometrial invasion. Pelvic lymph node metastasis was reported in 22.2% of patients in PET-CT. However, 3.7% of patients had pelvic lymph node metastasis. The kappa value for pelvic lymph node metastasis was 0.23, and sensitivity, specificity, and positive and negative predictive values were 100%, 80.7%, 16.6%, and 100%, respectively. Paraaortic lymph node metastasis in PET-CT was suspected in 10%. However, paraaortic lymph node metastasis was found in 6.7% in histopathologic analyses. The kappa value was 0.15. The sensitivity, specificity, and positive and negative predictive values of PET-CT for detecting paraaortic lymph node metastases were 100%, 93.7%, 66.6%, and 100%, respectively. Myometrial invasion and tumor diameter were the only important prognostic factors affecting SUVmax. Conclusion According to our results, PET-CT has a limited role and diagnostic efficacy in endometrial Cancer. The indications of FDG/PET-CT in Endometrium Cancer should be studied further and revised.
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The role of immunohistochemical adrenomedullin and Bcl-2 expression in development of type-1 endometrial adenocarcinoma: Adrenomedullin expression in Endometrium
Pathology Research and Practice, 2016Co-Authors: Kemal Kürşat Bozkurt, Yakup Yalçın, Ebru Erdemoğlu, Burak Tatar, Sevim Süreyya Çerçi, İbrahim Metin Çiriş, Şirin Başpınar, Afife Uğuz, Nilgun KapucuogluAbstract:Abstract Background Adrenomedullin (AM) is a pluripotent peptide first discovered from human pheochromocytoma. AM expression has been shown in various Cancer types including Endometrium Cancer. Bcl-2 is an antiapoptotic protein which might be regulated by AM in hypoxic conditions. The aim of the present study was to investigate the role of AM and Bcl-2 expressions in carcinogenesis of type-1 Endometrium Cancer. Materials and method Study group consisted of 10 proliferative Endometrium, 22 simple endometrial hyperplasia, 23 endometrial intraepithelial neoplasia (EIN) and 30 Grade 1 endometrioid adenocarcinoma patients. AM and Bcl-2 expressions were investigated by immunohistochemistry. Results Mean AM Allred score was 3 ± 2.6, 5.6 ± 1.6 and 5.7 ± 2.5 in benign, EIN and adenocarcinoma groups, respectively. AM expression was significantly higher in EIN and adenocarcinoma groups than in benign Endometrium group ( p p > 0.05). However, it was significantly lower in adenocarcinoma group ( p r : −0.4, p Conclusions Our findings showed that AM expression increased in progression from benign Endometrium to EIN and type-1 adenocarcinoma while expression of Bcl-2 decreased in transition from EIN to carcinoma.
Mark Drost - One of the best experts on this subject based on the ideXlab platform.
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a cell free assay for the functional analysis of variants of the mismatch repair protein mlh1
Human Mutation, 2010Co-Authors: Mark Drost, Jos E B M Zonneveld, Linda Van Dijk, Juul T. Wijnen, Hans Morreau, Hans F. A. Vasen, Carli M. J. Tops, Niels De WindAbstract:The hereditary colon and Endometrium Cancer predisposition Lynch Syndrome (also called HNPCC) is caused by a germ-line mutation in one of the DNA mismatch repair (MMR) genes. A significant fraction of the gene alterations detected in suspected Lynch Syndrome patients is comprised of amino acid substitutions. The relevance for Cancer risk of these variants is difficult to assess, as currently no time- and cost-effective, validated, and widely applicable functional assays for the measurement of MMR activity are available. Here we describe a rapid, cell-free, and easily quantifiable MMR activity assay for the diagnostic assessment of variants of the MLH1 MMR protein. This assay allows the parallel generation and functional analysis of a series of variants of the MLH1 protein in vitro using readily available, or preprepared, reagents. Using this assay we have tested 26 MLH1 variants and of these, 15 had lost activity. These results are in concordance with those obtained from first-generation assays and with in silico and pathology data. After its multifocal technical and clinical validation this assay could have great impact for the diagnosis and counseling of carriers of an MLH1 variant and their relatives. Hum Mutat 30:1–7, 2010. © 2010 Wiley-Liss, Inc.
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a cell free assay for the functional analysis of variants of the mismatch repair protein mlh1
Human Mutation, 2010Co-Authors: Mark Drost, Jos E B M Zonneveld, Juul T. Wijnen, Hans Morreau, Hans F. A. Vasen, Carli M. J. Tops, Linda Van Dijk, Niels De WindAbstract:The hereditary colon and Endometrium Cancer predisposition Lynch Syndrome (also called HNPCC) is caused by a germ-line mutation in one of the DNA mismatch repair (MMR) genes. A significant fraction of the gene alterations detected in suspected Lynch Syndrome patients is comprised of amino acid substitutions. The relevance for Cancer risk of these variants is difficult to assess, as currently no time- and cost-effective, validated, and widely applicable functional assays for the measurement of MMR activity are available. Here we describe a rapid, cell-free, and easily quantifiable MMR activity assay for the diagnostic assessment of variants of the MLH1 MMR protein. This assay allows the parallel generation and functional analysis of a series of variants of the MLH1 protein in vitro using readily available, or preprepared, reagents. Using this assay we have tested 26 MLH1 variants and of these, 15 had lost activity. These results are in concordance with those obtained from first-generation assays and with in silico and pathology data. After its multifocal technical and clinical validation this assay could have great impact for the diagnosis and counseling of carriers of an MLH1 variant and their relatives.
Juul T. Wijnen - One of the best experts on this subject based on the ideXlab platform.
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a cell free assay for the functional analysis of variants of the mismatch repair protein mlh1
Human Mutation, 2010Co-Authors: Mark Drost, Jos E B M Zonneveld, Linda Van Dijk, Juul T. Wijnen, Hans Morreau, Hans F. A. Vasen, Carli M. J. Tops, Niels De WindAbstract:The hereditary colon and Endometrium Cancer predisposition Lynch Syndrome (also called HNPCC) is caused by a germ-line mutation in one of the DNA mismatch repair (MMR) genes. A significant fraction of the gene alterations detected in suspected Lynch Syndrome patients is comprised of amino acid substitutions. The relevance for Cancer risk of these variants is difficult to assess, as currently no time- and cost-effective, validated, and widely applicable functional assays for the measurement of MMR activity are available. Here we describe a rapid, cell-free, and easily quantifiable MMR activity assay for the diagnostic assessment of variants of the MLH1 MMR protein. This assay allows the parallel generation and functional analysis of a series of variants of the MLH1 protein in vitro using readily available, or preprepared, reagents. Using this assay we have tested 26 MLH1 variants and of these, 15 had lost activity. These results are in concordance with those obtained from first-generation assays and with in silico and pathology data. After its multifocal technical and clinical validation this assay could have great impact for the diagnosis and counseling of carriers of an MLH1 variant and their relatives. Hum Mutat 30:1–7, 2010. © 2010 Wiley-Liss, Inc.
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a cell free assay for the functional analysis of variants of the mismatch repair protein mlh1
Human Mutation, 2010Co-Authors: Mark Drost, Jos E B M Zonneveld, Juul T. Wijnen, Hans Morreau, Hans F. A. Vasen, Carli M. J. Tops, Linda Van Dijk, Niels De WindAbstract:The hereditary colon and Endometrium Cancer predisposition Lynch Syndrome (also called HNPCC) is caused by a germ-line mutation in one of the DNA mismatch repair (MMR) genes. A significant fraction of the gene alterations detected in suspected Lynch Syndrome patients is comprised of amino acid substitutions. The relevance for Cancer risk of these variants is difficult to assess, as currently no time- and cost-effective, validated, and widely applicable functional assays for the measurement of MMR activity are available. Here we describe a rapid, cell-free, and easily quantifiable MMR activity assay for the diagnostic assessment of variants of the MLH1 MMR protein. This assay allows the parallel generation and functional analysis of a series of variants of the MLH1 protein in vitro using readily available, or preprepared, reagents. Using this assay we have tested 26 MLH1 variants and of these, 15 had lost activity. These results are in concordance with those obtained from first-generation assays and with in silico and pathology data. After its multifocal technical and clinical validation this assay could have great impact for the diagnosis and counseling of carriers of an MLH1 variant and their relatives.
Hans Morreau - One of the best experts on this subject based on the ideXlab platform.
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a cell free assay for the functional analysis of variants of the mismatch repair protein mlh1
Human Mutation, 2010Co-Authors: Mark Drost, Jos E B M Zonneveld, Linda Van Dijk, Juul T. Wijnen, Hans Morreau, Hans F. A. Vasen, Carli M. J. Tops, Niels De WindAbstract:The hereditary colon and Endometrium Cancer predisposition Lynch Syndrome (also called HNPCC) is caused by a germ-line mutation in one of the DNA mismatch repair (MMR) genes. A significant fraction of the gene alterations detected in suspected Lynch Syndrome patients is comprised of amino acid substitutions. The relevance for Cancer risk of these variants is difficult to assess, as currently no time- and cost-effective, validated, and widely applicable functional assays for the measurement of MMR activity are available. Here we describe a rapid, cell-free, and easily quantifiable MMR activity assay for the diagnostic assessment of variants of the MLH1 MMR protein. This assay allows the parallel generation and functional analysis of a series of variants of the MLH1 protein in vitro using readily available, or preprepared, reagents. Using this assay we have tested 26 MLH1 variants and of these, 15 had lost activity. These results are in concordance with those obtained from first-generation assays and with in silico and pathology data. After its multifocal technical and clinical validation this assay could have great impact for the diagnosis and counseling of carriers of an MLH1 variant and their relatives. Hum Mutat 30:1–7, 2010. © 2010 Wiley-Liss, Inc.
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a cell free assay for the functional analysis of variants of the mismatch repair protein mlh1
Human Mutation, 2010Co-Authors: Mark Drost, Jos E B M Zonneveld, Juul T. Wijnen, Hans Morreau, Hans F. A. Vasen, Carli M. J. Tops, Linda Van Dijk, Niels De WindAbstract:The hereditary colon and Endometrium Cancer predisposition Lynch Syndrome (also called HNPCC) is caused by a germ-line mutation in one of the DNA mismatch repair (MMR) genes. A significant fraction of the gene alterations detected in suspected Lynch Syndrome patients is comprised of amino acid substitutions. The relevance for Cancer risk of these variants is difficult to assess, as currently no time- and cost-effective, validated, and widely applicable functional assays for the measurement of MMR activity are available. Here we describe a rapid, cell-free, and easily quantifiable MMR activity assay for the diagnostic assessment of variants of the MLH1 MMR protein. This assay allows the parallel generation and functional analysis of a series of variants of the MLH1 protein in vitro using readily available, or preprepared, reagents. Using this assay we have tested 26 MLH1 variants and of these, 15 had lost activity. These results are in concordance with those obtained from first-generation assays and with in silico and pathology data. After its multifocal technical and clinical validation this assay could have great impact for the diagnosis and counseling of carriers of an MLH1 variant and their relatives.