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https://www.readbyqxmd.com/read/28525912/clinicopathologic-characteristics-of-endometrial-cancer-in-lynch-syndrome-a-french-multicenter-study
#1
Léa Rossi, Marie-Aude Le Frere-Belda, Pierre Laurent-Puig, Bruno Buecher, Antoine De Pauw, Dominique Stoppa-Lyonnet, Geoffroy Canlorbe, Olivier Caron, Bruno Borghese, Chrystelle Colas, Hélène Delhomelle, Nathalie Chabbert-Buffet, Sophie Grandjouan, Fabrice Lecuru, Anne-Sophie Bats
BACKGROUND: Limited data exist on Lynch syndrome (LS)-related endometrial cancer (EC) features. Amsterdam criteria II, commonly used, have poor sensitivity for detection of LS, which is underdiagnosed. AIM: The aim of this study was to describe the clinical and pathological features of LS-related EC among mutation-proven patients. METHODS: We conducted a retrospective study from 1977 to 2013 in 5 hospitals. The inclusion criteria were patients who had a primary EC associated to LS proven by a germline mutation...
June 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28523262/case-report-of-menopausal-woman-diagnosed-with-endometrial-cancer-after-colon-cancer-with-germline-mutation-in-msh6-in-korea
#2
Hyun Jung Lee, Min Hee Lee, Min Chul Choi, Sang Geun Jung, Won Duk Joo, Tae Hoen Kim, Chan Lee, Ja-Hyun Jang
We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (MSH6), associated with Lynch syndrome. A 60-year-old Korean woman had a personal history of colon cancer 23 years ago. She also had a family history of endometrial cancer and colon cancer of her sisters and brothers. Immunohistochemistry was negative for MutL homolog 1 (MLH1) and positive for MutS homolog 2 (MSH2). Based on these findings, she underwent genetic counseling and testing that revealed a frameshift germline mutation at MSH6 (c...
April 2017: Journal of Menopausal Medicine
https://www.readbyqxmd.com/read/28522602/can-microsatellite-status-of-colorectal-cancer-be-reliably-assessed-after-neoadjuvant-therapy
#3
Jennifer B Goldstein, William Wu, Ester Borras, Gita Masand, Amanda Cuddy, Maureen E Mork, Sarah Bannon, Patrick M Lynch, Miguel Rodriguez-Bigas, Melissa Taggart, Ji Wu, Paul Scheet, Scott Kopetz, Y Nancy You, Eduardo Vilar
Purpose: Determination of microsatellite instability (MSI) by PCR is the gold standard; however, immunohistochemistry (IHC) of mismatch repair (MMR) proteins is frequently performed instead. The reliability of these methods on post-neoadjuvant-therapy specimens is unknown.  We examined the effect of neoadjuvant therapy on MSI results by PCR and IHC. Experimental design: A total of 239 colorectal cancers resected after neoadjuvant therapy were assessed for MSI with PCR and IHC. PCR and IHC results for matched paired pre- and post-treatment specimens were compared...
May 18, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28514183/multigene-panel-testing-provides-a-new-perspective-on-lynch-syndrome
#4
Carin R Espenschied, Holly LaDuca, Shuwei Li, Rachel McFarland, Chia-Ling Gau, Heather Hampel
Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of mutations in MLH1 and MSH2. Most of these studies were performed on cohorts with disease suggestive of hereditary CRC and population-based CRC and endometrial cancer cohorts, possibly biasing results. We aimed to describe a large cohort of mismatch repair (MMR) mutation carriers ascertained through multigene panel testing, evaluate their phenotype, and compare the results with those of previous studies...
May 17, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28507641/a-case-report-of-muir-torre-syndrome-in-a-woman-with-breast-cancer-and-msi-low-skin-squamous-cell-carcinoma
#5
Caroline Kientz, Marie-Odile Joly, Laurence Faivre, Alix Clemenson, Sophie Dalac, Côme Lepage, Caroline Chapusot, Caroline Jacquot, Renaud Schiappa, Marine Lebrun
BACKGROUND: The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectrum. Hence, the real link between Lynch syndrome, or Muir-Torre syndrome, and these tumors remains difficult to assess...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28502729/improving-mutation-screening-in-patients-with-colorectal-cancer-predisposition-using-next-generation-sequencing
#6
Jean-Marc Rey, Vincent Ducros, Pascal Pujol, Qing Wang, Marie-Pierre Buisine, Hanaa Aissaoui, Thierry Maudelonde, Sylviane Olschwang
Identification of genetic alterations is important for family risk assessment in colorectal cancers. Next-generation sequencing (NGS) technologies provide useful tools for single-nucleotide and copy number variation (CNV) identification in many genes and samples simultaneously. Herein, we present the validation of current Multiplicom MASTR designs of mismatch repair combined to familial adenomatous polyposis genes in a single PCR reamplification test for eight DNA samples simultaneously on a MiSeq apparatus...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28498284/undifferentiated-and-dedifferentiated-endometrial-carcinomas-with-pole-exonuclease-domain-mutations-have-a-favorable-prognosis
#7
Iñigo Espinosa, Cheng-Han Lee, Emanuela D'Angelo, José Palacios, Jaime Prat
POLE exonuclease domain mutations have recently been described in undifferentiated endometrial carcinoma but, because of the rarity of this aggressive type of endometrial cancer, their prognostic significance is unknown. We have analyzed the immunophenotype (ARID1A, MLH1, PMS2, MSH2, MSH6, p53, β-catenin, and SMARCB1) and mutational status (POLE, PIK3CA, and PTEN) of 21 undifferentiated carcinomas (8 undifferentiated and 13 dedifferentiated carcinomas). Loss of ARID1A expression was observed in 9 of 19 cases (47%), loss of expression of at least 1 DNA mismatch repair protein in 7 (7/21; 33%), and p53 immunoreaction was aberrant (mutated/inactivated) in 11 cases (11/21; 52%)...
May 11, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28498244/identifying-lynch-syndrome-in-women-presenting-with-endometrial-carcinoma-under-the-age-of-50-years
#8
Antonios Anagnostopoulos, Vicky H McKay, Iris Cooper, Fiona Campbell, Lynn Greenhalgh, John Kirwan
BACKGROUND: Lynch syndrome (LS) is an inherited disorder associated with genetic predisposition to endometrial, colorectal, ovarian, and other cancers. There is consensus for the necessity of assessment for LS in view of the established survival benefits for identified patients and affected family members. The debate regarding the best screening policy is far from being concluded. OBJECTIVES: The aim of this study was to evaluate a realistic protocol for identifying LS families by assessing young women with a diagnosis of endometrial cancer (EC)...
June 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28494185/functional-analysis-of-rare-variants-in-mismatch-repair-proteins-augments-results-from-computation-based-predictive-methods
#9
Sanjeevani Arora, Peter J Huwe, Rahmat Sikder, Manali Shah, Amanda J Browne, Randy Lesh, Emmanuelle Nicolas, Sanat Deshpande, Michael J Hall, Roland L Dunbrack, Erica A Golemis
The cancer-predisposing Lynch Syndrome (LS) arises from germline mutations in DNA mismatch repair (MMR) genes, predominantly MLH1, MSH2, MSH6,and PMS2. A major challenge for clinical diagnosis of LS is the frequent identification of variants of uncertain significance (VUS) in these genes, as it is often difficult to determine variant pathogenicity, particularly for missense variants. Generic programs such as SIFT and PolyPhen-2, and MMR gene-specific programs such as PON-MMR and MAPP-MMR, are often used to predict deleterious or neutral effects of VUS in MMR genes...
May 11, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/28491141/universal-molecular-screening-does-not-effectively-detect-lynch-syndrome-in-clinical-practice
#10
Beatrice Brennan, Christine T Hemmings, Ian Clark, Desmond Yip, Mitali Fadia, Douglas R Taupin
BACKGROUND: Lynch syndrome (LS) due to an inherited damaging mutation in mismatch repair (MMR) genes comprises 3% of all incident colorectal cancer (CRC). Molecular testing using immunohistochemistry (IHC) for MMR proteins is a recommended screening tool to identify LS in incident CRC. This study assessed outcomes of population-based routine molecular screening for diagnosis of LS in a regional center. METHODS: We conducted a prospective, consecutive case series study of universal IHC testing on cases of resected CRC from September 2004-December 2013...
April 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/28489507/development-and-validation-of-the-premm5-model-for-comprehensive-risk-assessment-of-lynch-syndrome
#11
Fay Kastrinos, Hajime Uno, Chinedu Ukaegbu, Carmelita Alvero, Ashley McFarland, Matthew B Yurgelun, Matthew H Kulke, Deborah Schrag, Jeffrey A Meyerhardt, Charles S Fuchs, Robert J Mayer, Kimmie Ng, Ewout W Steyerberg, Sapna Syngal
Purpose Current Lynch syndrome (LS) prediction models quantify the risk to an individual of carrying a pathogenic germline mutation in three mismatch repair (MMR) genes: MLH1, MSH2, and MSH6. We developed a new prediction model, PREMM5, that incorporates the genes PMS2 and EPCAM to provide comprehensive LS risk assessment. Patients and Methods PREMM5 was developed to predict the likelihood of a mutation in any of the LS genes by using polytomous logistic regression analysis of clinical and germline data from 18,734 individuals who were tested for all five genes...
May 10, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28488580/germline-mutations-in-pancreatic-cancer-and-potential-new-therapeutic-options
#12
REVIEW
Rille Pihlak, Juan W Valle, Mairéad G McNamara
Due to short-lived treatment responses in unresectable disease, pancreatic ductal adenocarcinoma (PDAC) continues to be one of the deadliest cancers. There is availability of new information about germline and sporadic mutations in the deoxyribonucleic acid (DNA) damage repair pathway in PDAC in recent decades and the expectation is that novel targeted therapies will thus be developed. A variety of germline mutations (BRCA2, BRCA1, PALB2, CDKN2A, ATM, TP53 and mismatch repair genes MLH1, MSH2, MSH6) have been reported in these patients with the highest prevalence being BRCA1/2...
April 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28485341/microsatellite-instability-in-stage-ii-colorectal-cancer-an-indian-perspective
#13
A P Dubey, S Vishwanath, P Nikhil, A Rathore, A Pathak
INTRODUCTION: Around 80% of colorectal carcinoma are associated with chromosomal instability (CIN) while rest of 20 % are euploid, possessing defect in mis match repair system (MMR) quintessential for surveillance and correction of errors in introduced into microsatellites. MATERIALS AND METHODS: We analyse all stage II CRC for MSI who presented at MDTC at Army hospital (research and refrral) new delhi during last 2 years (Jan 14 to Dec 2015). RESULTS: We found that 22...
October 2016: Indian Journal of Cancer
https://www.readbyqxmd.com/read/28481244/incomplete-segregation-of-msh6-frameshift-variants-with-phenotype-of-lynch-syndrome
#14
Raffaella Liccardo, Marina De Rosa, Giovanni Battista Rossi, Nicola Carlomagno, Paola Izzo, Francesca Duraturo
Abstract: Lynch syndrome (LS), the most frequent form of hereditary colorectal cancer, involves mutations in mismatch repair genes. The aim of this study was to identify mutations in MSH6 from 97 subjects negative for mutations in MLH1 and MSH2. By direct sequencing, we identified 27 MSH6 variants, of which, nine were novel. To verify the pathogenicity of these novel variants, we performed in silico and segregation analyses. Three novel variants were predicted by in silico analysis as damaging mutations and segregated with the disease phenotype; while a novel frameshift deletion variant that was predicted to yield a premature stop codon did not segregate with the LS phenotype in three of four cases in the family...
May 6, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28471193/-molecular-pathology-of-colorectal-cancer-microsatellite-instability-the-detection-the-relationship-to-the-pathophysiology-and-prognosis
#15
V Brychtová, R Šefr, R Hrstka, P Vídeňská, B Bencsiková, B Hanáková, L Zdražilová Dubská, R Nenutil, E Budinská
BACKGROUND: Colorectal carcinoma (CRC) is third most common cancer worldwide with very heterogenous character. In most cases, it is caused by sporadic events leading to disruption of epithelial cells of the colon. The minority evolves from germline mutations associated with hereditary cancer syndromes. Mechanisms leading to mutations of oncogenes, tumour suppressors and genes of DNA repair mechanisms include: 1. chromosomal instability, 2. microsatellite instability and 3. CpG island methylator phenotype...
2017: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/28466842/comprehensive-population-wide-analysis-of-lynch-syndrome-in-iceland-reveals-founder-mutations-in-msh6-and-pms2
#16
Sigurdis Haraldsdottir, Thorunn Rafnar, Wendy L Frankel, Sylvia Einarsdottir, Asgeir Sigurdsson, Heather Hampel, Petur Snaebjornsson, Gisli Masson, Daniel Weng, Reynir Arngrimsson, Birte Kehr, Ahmet Yilmaz, Stefan Haraldsson, Patrick Sulem, Tryggvi Stefansson, Peter G Shields, Fridbjorn Sigurdsson, Tanios Bekaii-Saab, Pall H Moller, Margret Steinarsdottir, Kristin Alexiusdottir, Megan Hitchins, Colin C Pritchard, Albert de la Chapelle, Jon G Jonasson, Richard M Goldberg, Kari Stefansson
Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 patients diagnosed between 2000-2009. One-hundred and thirty-two (11.2%) tumours are mismatch repair deficient per immunohistochemistry...
May 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/28465297/comprehensive-transcriptome-and-mutational-profiling-of-endemic-burkitt-lymphoma-reveals-ebv-type-specific-differences
#17
Yasin Kaymaz, Cliff I Oduor, Hongbo Yu, Juliana A Otieno, John Michael Ong'echa, Ann M Moormann, Jeffrey A Bailey
Endemic Burkitt lymphoma (eBL) is the most common pediatric cancer in malaria-endemic equatorial Africa and nearly always contains Epstein-Barr virus (EBV), unlike sporadic Burkitt lymphoma (sBL) that occurs with a lower incidence in developed countries. Given these differences and the variable clinical presentation and outcomes, we sought to further understand pathogenesis by investigating transcriptomes using RNA sequencing (RNAseq) from multiple primary eBL tumors compared with sBL tumors. Within eBL tumors, minimal expression differences were found based on: anatomical presentation site, in-hospital survival rates, and EBV genome type, suggesting that eBL tumors are homogeneous without marked subtypes...
May 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28460341/a-rare-case-of-choroid-plexus-carcinoma-that-led-to-the-diagnosis-of-lynch-syndrome-hereditary-nonpolyposis-colorectal-cancer
#18
Viola W Zhu, Sanjay Hinduja, Stevan R Knezevich, William R Silveira, Celia D DeLozier
Lynch syndrome (hereditary nonpolyposis colorectal cancer) is an autosomal dominant disorder characterized by a significant risk of colorectal and endometrial cancers. A variety of other epithelial cancers may be associated with this syndrome. Brian tumors are infrequent, but have been reported in series. Here, we report a case of a 34-year-old Caucasian woman with WHO grade III choroid plexus carcinoma (CPC). Comprehensive genomic profiling of the patient's resected brain tumor revealed mutations in six genes: PTEN, VHL, MSH6, NOTCH1, RB1, and TP53...
April 19, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28452984/frequent-somatic-mutations-in-epigenetic-regulators-in-newly-diagnosed-chronic-myeloid-leukemia
#19
E Togasaki, J Takeda, K Yoshida, Y Shiozawa, M Takeuchi, M Oshima, A Saraya, A Iwama, K Yokote, E Sakaida, C Hirase, A Takeshita, K Imai, H Okumura, Y Morishita, N Usui, N Takahashi, S Fujisawa, Y Shiraishi, K Chiba, H Tanaka, H Kiyoi, K Ohnishi, S Ohtake, N Asou, Y Kobayashi, Y Miyazaki, S Miyano, S Ogawa, I Matsumura, C Nakaseko, T Naoe
Although tyrosine kinase inhibitors (TKIs) have significantly improved the prognosis of chronic myeloid leukemia (CML), the ability of TKIs to eradicate CML remains uncertain and patients must continue TKI therapy for indefinite periods. In this study, we performed whole-exome sequencing to identify somatic mutations in 24 patients with newly diagnosed chronic phase CML who were registered in the JALSG CML212 study. We identified 191 somatic mutations other than the BCR-ABL1 fusion gene (median 8, range 1-17)...
April 28, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28451866/the-116g%C3%A2-%C3%A2-a-msh6-and-ivs1-1121c%C3%A2-%C3%A2-t-pms2-genes-polymorphisms-modulate-the-risk-of-the-sporadic-colorectal-cancer-development-in-polish-population
#20
Piotr Zelga, Karolina Przybyłowska-Sygut, Marta Zelga, Adam Dziki, Ireneusz Majsterek
Colorectal cancer (CRC) is one of the most common cancers worldwide. DNA mismatch repair (MMR) is an evolutionarily conserved process that corrects mismatches generated during DNA replication. MMR defects were found to be associated with hereditary non-polyposis colorectal cancer (HNPCC) and a subset of sporadic colon cancers. The inheritance of common variations in MMR genes may influences individual susceptibility to the development of colorectal cancer. The purpose of the study was to evaluate the association between gene polymorphisms Glu39Gly (c...
April 27, 2017: Pathology Oncology Research: POR
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