Primary Site >> Colorectal Cancer
Gene >> PMS2
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Ref: Lynch Syndrome PMID: 20301390 |
Ref: Mutagenesis of yeast MW104-1B strain has identified the uncharacterized PMS6 DNA mismatch repair gene locus and additional alleles of existing PMS1, PMS2 and MSH2 genes. PMID: 7521009 |
Ref: Clinical implications of advances in the molecular genetics of colorectal cancer. PMID: 7571049 Ref: Update on the differential diagnosis, surveillance and management of hereditary non-polyposis colorectal cancer. PMID: 7576988 Ref: Genomic organization of the human PMS2 gene family. PMID: 8586419 |
Ref: Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome. PMID: 8880570 Ref: DNA mismatch repair deficient mice in cancer research. PMID: 9110401 |
Ref: An update of HNPCC (Lynch syndrome). PMID: 9062584 Ref: Elevated levels of mutation in multiple tissues of mice deficient in the DNA mismatch repair gene Pms2. PMID: 9096356 Ref: Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees. PMID: 9288790 Ref: Role of DNA mismatch repair in the cytotoxicity of ionizing radiation. PMID: 9371516 Ref: Cancer genetics in the new era of molecular biology. PMID: 9616736 Ref: Decreased expression of MLH1, MSH2, PMS1 and PMS2 in pigmented lesions indicates accumulation of failed DNA repair along with malignant transformation and tumour progression. PMID: 21590118 |
Ref: Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. PMID: 9500552 Ref: Enhanced intestinal adenomatous polyp formation in Pms2-/-;Min mice. PMID: 9515784 Ref: Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer. PMID: 9683794 Ref: Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. PMID: 9709044 Ref: Specificity of mutations in the PMS2-deficient human tumor cell line HEC-1-A. PMID: 9838164 |
Ref: Mammalian MutS homologue 5 is required for chromosome pairing in meiosis. PMID: 9916805 Ref: Evaluation of the replication error phenotype in relation to molecular and clinicopathological features in hereditary and early onset colorectal cancer. PMID: 10448273 Ref: Mouse models for colorectal cancer. PMID: 10498885 Ref: Genetic susceptibility to non-polyposis colorectal cancer. PMID: 10544223 Ref: Strategies for screening for hereditary non-polyposis colorectal cancer. PMID: 10544224 Ref: Clinical and molecular diagnosis of hereditary non-polyposis colorectal cancer: problems and pitfalls in an extended pedigree. PMID: 10575566 Ref: The cellular basis of the efficacy of the trinuclear platinum complex BBR 3464 against cisplatin-resistant cells. PMID: 10626355 Ref: Germline mutation and genome instability. PMID: 10772416 |
Ref: MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. PMID: 10615123 Ref: Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. PMID: 10763829 Ref: Surveillance on mutation carriers of DNA mismatch repair genes. PMID: 11079789 Ref: High throughput genetic screening for the detection of hereditary non-polyposis colon cancer (HNPCC) using capillary electrophoresis. PMID: 11121520 |
Ref: Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers. PMID: 11317354 Ref: [From gene to disease; from DNA 'mismatch' repair genes to hereditary non-polyposis colorectal carcinoma]. PMID: 11346916 Ref: Chemotherapy resistant ovarian cancer in carriers of an hMSH2 mutation? PMID: 14574006 |
Ref: Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain. PMID: 11920650 Ref: Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome. PMID: 12019211 Ref: Analysis of mismatch repair defects in the familial occurrence of lymphoma and colorectal cancer. PMID: 12400605 Ref: Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status in HNPCC-associated tumours. PMID: 12555992 |
Ref: Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic? PMID: 12522549 Ref: The immunohistochemical detection of mismatch repair gene proteins (MLH1, MSH2, MSH6, and PMS2): practical aspects in antigen retrieval and biotin blocking protocols. PMID: 12610360 Ref: Dimerization of MLH1 and PMS2 limits nuclear localization of MutLalpha. PMID: 12697830 Ref: Little evidence for involvement of MLH3 in colorectal cancer predisposition. PMID: 12800209 Ref: Brostallicin (PNU-166196)--a new DNA minor groove binder that retains sensitivity in DNA mismatch repair-deficient tumour cells. PMID: 14562032 |
Ref: Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. PMID: 14871975 Ref: Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. PMID: 15077197 Ref: [Molecular pathology in hereditary colorectal cancer. Recommendations of the Collaborative German Study Group on hereditary colorectal cancer funded by the German Cancer Aid (Deutsche Krebshilfe)]. PMID: 15138699 Ref: Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. PMID: 15256438 Ref: A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer. PMID: 15340263 Ref: Identification of HNPCC by molecular analysis of colorectal and endometrial tumors. PMID: 15528786 Ref: High-throughput gene sequencing assay development for hereditary nonpolyposis colon cancer. PMID: 15555211 |
Ref: Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma. PMID: 15845562 Ref: Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). PMID: 15872200 Ref: Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. PMID: 15887099 Ref: Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). PMID: 15942939 Ref: A homozygous mutation in MSH6 causes Turcot syndrome. PMID: 16000562 Ref: Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes. PMID: 16042583 Ref: Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. PMID: 16116158 Ref: Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregation. PMID: 16166421 Ref: Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse. PMID: 16204034 Ref: Expression of the MutL homologue hMLH3 in human cells and its role in DNA mismatch repair. PMID: 16322221 |
Ref: A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years. PMID: 16372347 Ref: Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. PMID: 16418736 Ref: Overexpression of the DNA mismatch repair factor, PMS2, confers hypermutability and DNA damage tolerance. PMID: 16426742 Ref: The genetics of HNPCC: application to diagnosis and screening. PMID: 16434208 Ref: Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). PMID: 16472587 Ref: PMS2 mutations in childhood cancer. PMID: 16507833 Ref: Optimization of antibodies for detection of the mismatch repair proteins MLH1, MSH2, MSH6, and PMS2 using a biotin-free visualization system. PMID: 16540742 Ref: Reduced Pms2 expression in non-neoplastic flat mucosa from patients with colon cancer correlates with reduced apoptosis competence. PMID: 16785784 Ref: The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer. PMID: 16817031 Ref: Sessile serrated adenomas with low- and high-grade dysplasia and early carcinomas: an immunohistochemical study of serrated lesions "caught in the act". PMID: 16938659 Ref: Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability. PMID: 17117178 |
Ref: Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations. PMID: 16837128 Ref: Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer. PMID: 17258725 Ref: Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors. PMID: 17284719 Ref: Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. PMID: 17312306 Ref: Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). PMID: 17327285 Ref: A new variant database for mismatch repair genes associated with Lynch syndrome. PMID: 17347989 Ref: Turcot syndrome confirmed with molecular analysis. PMID: 17389002 Ref: Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer. PMID: 17417778 Ref: Utility of immunohistochemistry in predicting microsatellite instability in endometrial carcinoma. PMID: 17460459 Ref: Microsatellite instability markers for identifying early-onset colorectal cancers caused by germ-line mutations in DNA mismatch repair genes. PMID: 17504984 Ref: Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. PMID: 17557300 Ref: TGF-beta signaling alterations and susceptibility to colorectal cancer. PMID: 17613544 Ref: Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer. PMID: 17652638 Ref: Hereditary nonpolyposis colorectal cancer: diagnostic strategies and their implications. PMID: 17764220 Ref: Molecular testing for microsatellite instability and DNA mismatch repair defects in hereditary and sporadic colorectal cancers--ready for prime time? PMID: 17962726 Ref: Humanizing mismatch repair in yeast: towards effective identification of hereditary non-polyposis colorectal cancer alleles. PMID: 18031259 Ref: [How and when to search for microsatellite instability in colorectal cancer in 2008?]. PMID: 18554553 |
Ref: Correlation between patient weight and defects in DNA mismatch repair: is this the link between an increased risk of previous cancer in thinner women with endometrial cancer? PMID: 17466051 Ref: Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. PMID: 17851451 Ref: Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. PMID: 17993636 Ref: Childhood T-cell non-Hodgkin's lymphoma, colorectal carcinoma and brain tumor in association with cafe-au-lait spots caused by a novel homozygous PMS2 mutation. PMID: 18007577 Ref: Clustering of Lynch syndrome malignancies with no evidence for a role of DNA mismatch repair. PMID: 18022218 Ref: Cafe-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. PMID: 18273873 Ref: Common variants in mismatch repair genes and risk of colorectal cancer. PMID: 18364438 Ref: Concomitant activation of Wnt pathway and loss of mismatch repair function in human melanoma. PMID: 18384130 Ref: Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus. PMID: 18409202 Ref: Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas. PMID: 18415027 Ref: The first functional study of MLH3 mutations found in cancer patients. PMID: 18521850 Ref: Novel roles for MLH3 deficiency and TLE6-like amplification in DNA mismatch repair-deficient gastrointestinal tumorigenesis and progression. PMID: 18551179 Ref: Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part II. The utility of microsatellite instability testing. PMID: 18556776 Ref: The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. PMID: 18602922 Ref: Interpretation of immunohistochemistry for mismatch repair proteins is only reliable in a specialized setting. PMID: 18677806 Ref: Differences and evolution of the methods for the assessment of microsatellite instability. PMID: 18679418 Ref: Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? PMID: 18709565 Ref: Lynch syndrome and related familial colorectal cancers. PMID: 19105568 |
Ref: Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2. PMID: 18781192 Ref: High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers. PMID: 18841495 Ref: A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts. PMID: 19039682 Ref: Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test. PMID: 19072991 Ref: Common germline variation in mismatch repair genes and survival after a diagnosis of colorectal cancer. PMID: 19115210 Ref: Nuclear import of human MLH1, PMS2, and MutLalpha: redundancy is the key. PMID: 19148896 Ref: Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. PMID: 19156169 Ref: Selection of endometrial carcinomas for DNA mismatch repair protein immunohistochemistry using patient age and tumor morphology enhances detection of mismatch repair abnormalities. PMID: 19238076 Ref: Prediction of Lynch syndrome in consecutive patients with colorectal cancer. PMID: 19244167 Ref: Towards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient's age or other clinical characteristics. PMID: 19342947 Ref: Mismatch repair genes in Lynch syndrome: a review. PMID: 19466295 Ref: Prospective evaluation of DNA mismatch repair protein expression in primary endometrial cancer. PMID: 19515405 Ref: Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome. PMID: 19526325 Ref: Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. PMID: 19564652 Ref: Epigenetic repression of DNA mismatch repair by inflammation and hypoxia in inflammatory bowel disease-associated colorectal cancer. PMID: 19638594 Ref: Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing. PMID: 19669601 Ref: Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome. PMID: 19672700 Ref: Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases. PMID: 19690142 Ref: Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: a 2-antibody panel may be as predictive as a 4-antibody panel. PMID: 19701074 Ref: Immunohistochemistry staining for the mismatch repair proteins in the clinical care of patients with colorectal cancer. PMID: 19752738 Ref: Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers. PMID: 19930554 Ref: Colorectal cancer susceptibility associated with the hMLH1 V384D variant. PMID: 21475916 |
Ref: Colorectal cancer in Iran: immunohistochemical profiles of four mismatch repair proteins. PMID: 19707776 Ref: Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of Brazil. PMID: 19821155 Ref: Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation. PMID: 19949877 Ref: Microsatellite instability in colorectal cancer-the stable evidence. PMID: 20142816 Ref: R659X mutation in the MLH1 gene in hereditary non-polyposis colorectal cancer(HNPCC) in an Indian extended family. PMID: 20167975 Ref: Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event. PMID: 20186689 Ref: Lynch Syndrome/Hereditary Non-polyposis Colorectal Cancer (HNPCC). PMID: 20190724 Ref: An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers. PMID: 20195377 Ref: Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry. PMID: 20215533 Ref: DNA mismatch repair deficiency in ampullary carcinoma: a morphologic and immunohistochemical study of 54 cases. PMID: 20395525 Ref: Molecular biology from bench-to-bedside - which colorectal cancer patients should be referred for genetic counselling and risk assessment. PMID: 20417091 Ref: MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. PMID: 20487569 Ref: Point: justification for Lynch syndrome screening among all patients with newly diagnosed colorectal cancer. PMID: 20495086 Ref: Counterpoint: implementing population genetic screening for Lynch Syndrome among newly diagnosed colorectal cancer patients--will the ends justify the means? PMID: 20495087 Ref: Clinical relevance of microsatellite instability in colorectal cancer. PMID: 20516444 Ref: The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. PMID: 20531397 Ref: Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. PMID: 20533529 Ref: [Microsatellite instability of bilateral breast carcinomas is not linked to down-regulated expression of DNA mismatch repair genes]. PMID: 20552889 Ref: Interobserver variability in the evaluation of mismatch repair protein immunostaining. PMID: 20573374 Ref: Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. PMID: 20587412 Ref: Immunohistochemistry for PMS2 and MSH6 alone can replace a four antibody panel for mismatch repair deficiency screening in colorectal adenocarcinoma. PMID: 20632815 Ref: DNA mismatch repair enzyme immunohistochemistry in colorectal cancer: a comparison of biopsy and resection material. PMID: 20632816 Ref: Low frequency of Lynch syndrome among young patients with non-familial colorectal cancer. PMID: 20655395 Ref: Microsatellite instability among individuals of Hispanic origin with colorectal cancer. PMID: 20665498 Ref: Deficient Pms2, ERCC1, Ku86, CcOI in field defects during progression to colon cancer. PMID: 20689513 Ref: MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer. PMID: 20924129 Ref: [Differential diagnostics of hereditary colorectal cancer syndromes. The role of pathology]. PMID: 20960194 Ref: Three novel germline mutations in MLH1 and MSH2 in families with Lynch syndrome living on Jeju island, Korea. PMID: 21034533 Ref: Neoadjuvant therapy induces loss of MSH6 expression in colorectal carcinoma. PMID: 21107085 Ref: Combining modularity, conservation, and interactions of proteins significantly increases precision and coverage of protein function prediction. PMID: 21171995 |
Ref: The relationship between serum vascular endothelial growth factor A and microsatellite instability in colorectal cancer. PMID: 20594200 Ref: Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: probability of synergistic effects. PMID: 21128252 Ref: Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. PMID: 21145788 Ref: Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery. PMID: 21193451 Ref: Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases. PMID: 21227399 Ref: Novel MLH1 duplication identified in Colombian families with Lynch syndrome. PMID: 21233718 Ref: Immunohistochemical staining for DNA mismatch repair proteins in intestinal tract carcinoma: how reliable are biopsy samples? PMID: 21297438 Ref: Clinicopathologic and molecular profiles of microsatellite unstable Barrett Esophagus-associated adenocarcinoma. PMID: 21422910 Ref: A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one. PMID: 21431882 Ref: Clinically important molecular features of Peruvian colorectal tumours: high prevalence of DNA mismatch repair deficiency and low incidence of KRAS mutations. PMID: 21436632 Ref: Microsatellite instability in colorectal cancer: from molecular oncogenic mechanisms to clinical implications. PMID: 21484480 Ref: A two-antibody mismatch repair protein immunohistochemistry screening approach for colorectal carcinomas, skin sebaceous tumors, and gynecologic tract carcinomas. PMID: 21499234 Ref: Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes. PMID: 21559014 Ref: Determining the frequency of de novo germline mutations in DNA mismatch repair genes. PMID: 21636617 Ref: Microsatellite instability in the management of colorectal cancer. PMID: 21651356 Ref: Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion. PMID: 21769135 Ref: Mismatch repair genes expression defects & association with clinicopathological characteristics in colorectal carcinoma. PMID: 21911971 Ref: Preoperative diagnosis of Lynch syndrome with DNA mismatch repair immunohistochemistry on a diagnostic biopsy. PMID: 22067175 Ref: Null pattern of immunoreactivity in a Lynch syndrome-associated colon cancer due to germline MSH2 mutation and somatic MLH1 hypermethylation. PMID: 22067334 Ref: [Management of hereditary non-polyposis syndrome (Lynch syndrome)]. PMID: 22164924 Ref: Sporadic colorectal polyps and mismatch repair proteins. PMID: 22234098 Ref: Alterations of copy number of methylation pattern in mismatch repair genes by methylation specific-multiplex ligation-dependent probe amplification in cases of colon cancer. PMID: 24052709 |
Ref: Association between methylation in mismatch repair genes, V600E BRAF mutation and microsatellite instability in colorectal cancer patients. PMID: 21681432 Ref: Presence of JC virus DNA in the tumor tissue and normal mucosa of patients with sporadic colorectal cancer (CRC) or with positive family history and Bethesda criteria. PMID: 21830098 Ref: Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. PMID: 21868491 Ref: Different phenotypic consequences of simultaneous versus stepwise Apc loss. PMID: 21892206 Ref: Colorectal adenocarcinoma: a pediatric case review with a focus on mismatch repair gene mutations and E-cadherin expression. PMID: 21985494 Ref: A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours. PMID: 22120844 Ref: Ovarian endometrioid adenocarcinoma: incidence and clinical significance of the morphologic and immunohistochemical markers of mismatch repair protein defects and tumor microsatellite instability. PMID: 22189970 Ref: Aberrant protein expression and frequent allelic loss of MSH3 in colorectal cancer with low-level microsatellite instability. PMID: 22249440 Ref: Clinical and molecular detection of inherited colorectal cancers in northeast Italy: a first prospective study of incidence of Lynch syndrome and MUTYH-related colorectal cancer in Italy. PMID: 22278153 Ref: Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries. PMID: 22321913 Ref: Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry. PMID: 22322191 Ref: Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. PMID: 22331944 Ref: C-terminal fluorescent labeling impairs functionality of DNA mismatch repair proteins. PMID: 22348133 Ref: Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch syndrome among US cancer programs and follow-up of abnormal results. PMID: 22355048 Ref: Deficient expression of DNA repair enzymes in early progression to sporadic colon cancer. PMID: 22494821 Ref: Phenotype and polyp landscape in serrated polyposis syndrome: a series of 100 patients from genetics clinics. PMID: 22510757 Ref: Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients. PMID: 22581703 Ref: Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL. PMID: 22585707 Ref: Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency. PMID: 22608206 Ref: Clinicopathological features and management of cancers in lynch syndrome. PMID: 22619739 Ref: ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. PMID: 22658618 Ref: Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry. PMID: 22714864 Ref: Interrelationship between microsatellite instability and microRNA in gastrointestinal cancer. PMID: 22719182 Ref: Soft tissue sarcoma and the hereditary non-polyposis colorectal cancer (HNPCC) syndrome: formulation of an hypothesis. PMID: 22782591 Ref: Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome. PMID: 22933731 Ref: Limitations of tissue micro array in Duke's B colon cancer. PMID: 22958290 Ref: DNA mismatch repair deficiency in breast carcinoma: a pilot study of triple-negative and non-triple-negative tumors. PMID: 22992699 Ref: Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer. PMID: 23164213 Ref: Oncologic management of hereditary colorectal cancer. PMID: 23730227 |
Ref: Comparison of the clinical prediction model PREMM(1,2,6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer. PMID: 22345660 Ref: Recurrent and founder mutations in the PMS2 gene. PMID: 22577899 Ref: Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency. PMID: 22918162 Ref: Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. PMID: 22949387 Ref: Decreased FANCJ caused by 5FU contributes to the increased sensitivity to oxaliplatin in gastric cancer cells. PMID: 22968820 Ref: Molecular patterns in the evolution of serrated lesion of the colorectum. PMID: 23011871 Ref: Anaplastic oligodendroglioma in an adolescent with Lynch syndrome. PMID: 23255519 Ref: EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients. PMID: 23264089 Ref: Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything? PMID: 23288611 Ref: Risk of cancer in cases of suspected lynch syndrome without germline mutation. PMID: 23354017 Ref: Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers. PMID: 23358792 Ref: Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome. PMID: 23385444 Ref: Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. PMID: 23408351 Ref: [A novel genetic disorder of Lynch syndrome - EPCAM gene deletion]. PMID: 23411950 Ref: Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers? PMID: 23434150 Ref: Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome. PMID: 23483711 Ref: Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients. PMID: 23544471 Ref: BRAF V600E-specific immunohistochemistry for the exclusion of Lynch syndrome in MSI-H colorectal cancer. PMID: 23553055 Ref: Tissue expression of MLH1, PMS2, MSH2, and MSH6 proteins and prognostic value of microsatellite instability in Wilms tumor: experience of 45 cases. PMID: 23570624 Ref: High-level microsatellite instability in appendiceal carcinomas. PMID: 23648460 Ref: Commentary on "Risks of primary extracolonic cancers following colorectal cancer in Lynch syndrome." Win AK, Lindor NM, Young JP, Macrae FA, Young GP, Williamson E, Parry S, Goldblatt J, Lipton L, Winship I, Leggett B, Tucker KM, Giles GG, Buchanan DD, Cl PMID: 23796201 Ref: Reduced FHIT expression is associated with mismatch repair deficient and high CpG island methylator phenotype colorectal cancer. PMID: 23797051 Ref: Expression of MUC2, MUC5AC, MUC5B, and MUC6 mucins in colorectal cancers and their association with the CpG island methylator phenotype. PMID: 23807779 Ref: Clinicopathologic features of synchronous colorectal carcinoma: A distinct subset arising from multiple sessile serrated adenomas and associated with high levels of microsatellite instability and favorable prognosis. PMID: 23887157 Ref: Mismatch repair deficiency screening via immunohistochemical staining in young Asians with colorectal cancers. PMID: 23887594 Ref: BRAF V600E mutation analysis simplifies the testing algorithm for Lynch syndrome. PMID: 23897252 Ref: Criteria and prediction models for mismatch repair gene mutations: a review. PMID: 23956446 Ref: Genetic testing strategies in newly diagnosed endometrial cancer patients aimed at reducing morbidity or mortality from lynch syndrome in the index case or her relatives. PMID: 24056992 Ref: Evaluation of tumor suppressor gene expressions and aberrant methylation in the colon of cancer-induced rats: a pilot study. PMID: 24065530 Ref: Loss of Cdx2 Expression in Primary Tumors and Lymph Node Metastases is Specific for Mismatch Repair-Deficiency in Colorectal Cancer. PMID: 24130965 Ref: Immunochemistry screening for Lynch syndrome in colorectal adenocarcinoma using an initial two antibody panel can replace a four antibody panel. PMID: 24154771 Ref: Dominant mutations in S. cerevisiae PMS1 identify the Mlh1-Pms1 endonuclease active site and an exonuclease 1-independent mismatch repair pathway. PMID: 24204293 Ref: Genes and SNPs associated with non-hereditary and hereditary colorectal cancer. PMID: 24289550 Ref: Adenomatous Polyposis Coli, mismatch repair, and microsatellite instability in colorectal cancer based on different locations. PMID: 24448331 Ref: Rhabdoid carcinoma of the rectum. PMID: 24466541 Ref: Copy number variation in hereditary non-polyposis colorectal cancer. PMID: 24705261 Ref: Practical genetics of colorectal cancer. PMID: 25841492 |
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