Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families

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Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families is …
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review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1016/J.MRFMMM.2009.09.004
P932PMC publication ID2891646
P698PubMed publication ID19766128
P5875ResearchGate publication ID26823602

P2093author name stringChristopher D Heinen
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Asef, a link between the tumor suppressor APC and G-protein signalingQ24290104
Loss of APC induces polyploidy as a result of a combination of defects in mitosis and apoptosisQ24293237
Identification of deletion mutations and three new genes at the familial polyposis locusQ24294229
Identification of c-MYC as a target of the APC pathwayQ24310637
Binding of GSK3beta to the APC-beta-catenin complex and regulation of complex assemblyQ24312910
The beta-catenin/TCF-4 complex imposes a crypt progenitor phenotype on colorectal cancer cellsQ24314491
Identification and characterization of Asef2, a guanine-nucleotide exchange factor specific for Rac1 and Cdc42Q24315041
APC binds to the novel protein EB1Q24317778
Mutations of two PMS homologues in hereditary nonpolyposis colon cancerQ24318484
Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instabilityQ24319995
Association of the APC gene product with beta-cateninQ24322359
Asef2 functions as a Cdc42 exchange factor and is stimulated by the release of an autoinhibitory module from a concealed C-terminal activation elementQ24322694
Constitutive transcriptional activation by a beta-catenin-Tcf complex in APC-/- colon carcinomaQ24336272
Lack of adenomatous polyposis coli protein correlates with a decrease in cell migration and overall changes in microtubule stabilityQ24338380
Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coliQ74604772
Genetics of colonic cancerQ77096087
Somatic instability of the APC I1307K allele in colorectal neoplasiaQ77343361
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancerQ77495184
Chemistry of Glycosylases and Endonucleases Involved in Base-Excision RepairQ77646696
Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1Q77931822
Neurofibromatosis and early onset of cancers in hMLH1-deficient childrenQ77931826
Frequent microsatellite instability in sporadic tumors of the upper urinary tractQ78598118
The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutationsQ79518237
A new variant database for mismatch repair genes associated with Lynch syndromeQ79909235
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assaysQ80352228
Mouse model of colonic adenoma-carcinoma progression based on somatic Apc inactivationQ81454513
Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancerQ81735951
Attenuated APC alleles produce functional protein from internal translation initiationQ24534442
Molecular mechanisms of beta-catenin recognition by adenomatous polyposis coli revealed by the structure of an APC-beta-catenin complexQ24535907
Genotype-phenotype correlations in attenuated adenomatous polyposis coliQ24538991
Loss of Apc heterozygosity and abnormal tissue building in nascent intestinal polyps in mice carrying a truncated Apc geneQ24562061
A targeted chain-termination mutation in the mouse Apc gene results in multiple intestinal tumorsQ24564011
Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancerQ24614511
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instabilityQ24618618
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genomeQ24644436
Somatic mutations affect key pathways in lung adenocarcinomaQ24648102
An integrated genomic analysis of human glioblastoma multiformeQ24648860
Structure of the human MutSalpha DNA lesion recognition complexQ27644980
Crystal structure and ATPase activity of MutL: implications for DNA repair and mutagenesisQ27766073
A genetic model for colorectal tumorigenesisQ27860582
Beta-catenin regulates expression of cyclin D1 in colon carcinoma cellsQ27860717
The consensus coding sequences of human breast and colorectal cancersQ27861035
The genomic landscapes of human breast and colorectal cancersQ27861078
Interaction between mismatch repair and genetic recombination in Saccharomyces cerevisiaeQ27930781
Characterization of insertion mutations in the Saccharomyces cerevisiae MSH1 and MSH2 genes: evidence for separate mitochondrial and nuclear functionsQ27932283
Functional specificity of MutL homologs in yeast: evidence for three Mlh1-based heterocomplexes with distinct roles during meiosis in recombination and mismatch correctionQ27939611
Mutation of a mutL homolog in hereditary colon cancerQ28114939
Genetic instabilities in human cancersQ28131826
EB1, a protein which interacts with the APC tumour suppressor, is associated with the microtubule cytoskeleton throughout the cell cycleQ28137702
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancerQ28137782
Germ-line msh6 mutations in colorectal cancer familiesQ28146076
Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigeneticsQ28253670
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancerQ28256988
Association of the APC tumor suppressor protein with cateninsQ28257313
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancerQ28257360
Mechanisms and functions of DNA mismatch repairQ28262719
APC mutations occur early during colorectal tumorigenesisQ28274764
Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing overQ28282791
Colorectal tumourigenesis in carriers of the APC I1307K variant: lone gunman or conspiracy?Q35047900
Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5Q35247824
Attenuated familial adenomatous polyposis (AFAP). A review of the literatureQ35566208
Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predispositionQ35571030
Nuclear localization of human DNA mismatch repair protein exonuclease 1 (hEXO1)Q35829272
Loss of DNA mismatch repair function and cancer predisposition in the mouse: animal models for human hereditary nonpolyposis colorectal cancerQ35841148
The adenomatous polyposis coli protein: the Achilles heel of the gut epithelium.Q35912806
Altering the conserved nucleotide binding motif in the Salmonella typhimurium MutS mismatch repair protein affects both its ATPase and mismatch binding activitiesQ35930280
Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.Q36083305
The APC gene product in normal and tumor cellsQ36203064
Embryonic axis induction by the armadillo repeat domain of beta-catenin: evidence for intracellular signalingQ36235397
The adenomatous polyposis coli tumor suppressor protein localizes to plasma membrane sites involved in active cell migration.Q36237136
Genetic instability of microsatellites in endometrial carcinomaQ72559451
Colorectal cancer with and without microsatellite instability involves different genesQ73031255
Signaling mismatch repair in cancerQ73143600
The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effectQ73274277
Serrated route to colorectal cancer: back street or super highway?Q73592696
Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndromeQ74130430
Defective expression of the DNA mismatch repair protein, MLH1, alters G2-M cell cycle checkpoint arrest following ionizing radiationQ74251180
MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancersQ74595724
Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutationsQ36338216
The multifaceted mismatch-repair systemQ36448284
Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.Q36634564
A change in microsatellite instability caused by cisplatin-based chemotherapy of ovarian cancerQ36643443
Dual requirement in yeast DNA mismatch repair for MLH1 and PMS1, two homologs of the bacterial mutL geneQ36643609
MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testingQ36680267
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genesQ36862037
Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch bindingQ36968380
The genetics of hereditary colon cancerQ36972251
Interference of mismatch and base excision repair during the processing of adjacent U/G mispairs may play a key role in somatic hypermutationQ37138006
Characterisation of a subtype of colorectal cancer combining features of the suppressor and mild mutator pathwaysQ37238532
Assessment of functional effects of unclassified genetic variantsQ37308298
Forced expression of the tumor suppressor adenomatosis polyposis coli protein induces disordered cell migration in the intestinal epitheliumQ37356829
Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variantQ37360286
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature reviewQ37386539
Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer riskQ37400462
Mouse models of colon cancerQ37407244
Apoptosis and APC in colorectal tumorigenesisQ37452369
The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.Q37484741
Mlh1 is unique among mismatch repair proteins in its ability to promote crossing-over during meiosisQ38344945
Use of 5-fluorouracil and survival in patients with microsatellite-unstable colorectal cancerQ38449001
The APC E1317Q variant in adenomatous polyps and colorectal cancers.Q39127268
Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistryQ39514722
Errors in DNA replication as a basis of malignant changesQ39870986
MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression systemQ39941626
Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated proteinQ40209098
The APC tumor suppressor counteracts beta-catenin activation and H3K4 methylation at Wnt target genesQ40309718
Characterization of the mismatch repair defect in the human lymphoblastoid MT1 cellsQ40414588
Definition of candidate low risk APC alleles in a Swedish populationQ40513212
Restoration of full-length adenomatous polyposis coli (APC) protein in a colon cancer cell line enhances cell adhesion.Q40606666
DNA damage invokes mismatch repair-dependent cyclin D1 attenuation and retinoblastoma signaling pathways to inhibit CDK2.Q40765943
APC-mediated downregulation of beta-catenin activity involves nuclear sequestration and nuclear exportQ40819100
Apoptosis induced by overexpression of hMSH2 or hMLH1.Q40943668
Response of colon cancer cell lines to the introduction of APC, a colon-specific tumor suppressor gene.Q41352829
Misorientation and reduced stretching of aligned sister kinetochores promote chromosome missegregation in EB1- or APC-depleted cells.Q41445584
Suppression of tumorigenicity in human colon carcinoma cells by introduction of normal chromosome 5 or 18Q41699197
Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APCQ42680618
Nuclear-cytoplasmic shuttling of APC regulates beta-catenin subcellular localization and turnoverQ42796363
Functional analysis of HNPCC-related missense mutations in MSH2.Q42807963
Phenotypic expression in familial adenomatous polyposis: partial prediction by mutation analysisQ43215072
Loss of DNA mismatch repair imparts defective cdc2 signaling and G(2) arrest responses without altering survival after ionizing radiationQ43806567
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression systemQ43847787
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumorsQ43871566
Clonal analysis of human colorectal tumorsQ28283169
Functional interaction of beta-catenin with the transcription factor LEF-1Q28286884
Identification of mismatch repair genes and their role in the development of cancerQ28288647
Interaction with IQGAP1 links APC to Rac1, Cdc42, and actin filaments during cell polarization and migrationQ28295800
Meiotic pachytene arrest in MLH1-deficient miceQ28510650
An Msh2 point mutation uncouples DNA mismatch repair and apoptosisQ28512999
Msh2 status modulates both apoptosis and mutation frequency in the murine small intestineQ28585239
Mouse models for hereditary nonpolyposis colorectal cancerQ28585761
Loss of Apc in vivo immediately perturbs Wnt signaling, differentiation, and migrationQ28587140
Dominant effects of an Msh6 missense mutation on DNA repair and cancer susceptibilityQ28591039
XTcf-3 transcription factor mediates beta-catenin-induced axis formation in Xenopus embryosQ28619032
Regulation of intracellular beta-catenin levels by the adenomatous polyposis coli (APC) tumor-suppressor proteinQ29614383
Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinomaQ29615026
A dominant mutation that predisposes to multiple intestinal neoplasia in the mouseQ29616489
Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC geneQ29616490
Listening to silence and understanding nonsense: exonic mutations that affect splicingQ29618493
Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repairQ29618879
Identification and characterization of the familial adenomatous polyposis coli geneQ29620382
Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell linesQ29620526
Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC geneQ30444901
Role of DNA mismatch repair and p53 in signaling induction of apoptosis by alkylating agents.Q30454407
Mismatch repair-dependent G2 checkpoint induced by low doses of SN1 type methylating agents requires the ATR kinaseQ31070565
Colorectal cancers in a new mouse model of familial adenomatous polyposis: influence of genetic and environmental modifiersQ33208221
Strand-specific mismatch correction in nuclear extracts of human and Drosophila melanogaster cell linesQ33720790
Mismatch repair processing of carcinogen-DNA adducts triggers apoptosisQ33960642
DNA mismatch repair and genetic instabilityQ34090778
Mutated APC and Asef are involved in the migration of colorectal tumour cellsQ34179068
Ectopic expression of the proto-oncogene int-1 in Xenopus embryos leads to duplication of the embryonic axis.Q34507567
Progression of colorectal cancer is associated with multiple tumor suppressor gene defects but inhibition of tumorigenicity is accomplished by correction of any single defect via chromosome transferQ34538564
MUTYH Associated Polyposis (MAP).Q34608633
Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instabilityQ34617569
Functional analysis of human MutSalpha and MutSbeta complexes in yeastQ34693488
AID and mismatch repair in antibody diversificationQ34770418
Emerging concepts in colorectal neoplasiaQ34800070
Methylation-induced G2/M arrest requires a full complement of the mismatch repair protein hMLH1Q35019055
DNA repair and tumorigenesis: lessons from hereditary cancer syndromesQ35032229
Mismatch repair co-opted by hypermutation.Q43917262
Mechanisms of pathogenicity in human MSH2 missense mutants.Q43919200
HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functionsQ44068446
The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesisQ44463232
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).Q44498341
Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC geneQ45345254
Mismatch repair converts AID-instigated nicks to double-strand breaks for antibody class-switch recombinationQ46821758
Loss of beta-catenin regulation by the APC tumor suppressor protein correlates with loss of structure due to common somatic mutations of the geneQ46906570
Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instabilityQ47704165
Functional analysis of human MLH1 mutations in Saccharomyces cerevisiaeQ47713981
Mismatch repair, molecular switches, and signal transductionQ47787090
Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patientsQ47794811
Functional genetic tests of DNA mismatch repair protein activity in Saccharomyces cerevisiaeQ47962525
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancerQ48084125
Alleles of the APC gene: an attenuated form of familial polyposisQ48088124
Defects in mismatch repair promote telomerase-independent proliferationQ48361396
The barrier to recombination between Escherichia coli and Salmonella typhimurium is disrupted in mismatch-repair mutantsQ50192890
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.Q51956436
Gardner syndrome in a man with an interstitial deletion of 5q.Q52077264
Localization of the gene for familial adenomatous polyposis on chromosome 5.Q52255517
wingless signal and Zeste-white 3 kinase trigger opposing changes in the intracellular distribution of Armadillo.Q52543307
The APC tumor suppressor controls entry into S-phase through its ability to regulate the cyclin D/RB pathway.Q52547150
The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade.Q53389774
Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression.Q53439660
Chemotherapy resistant ovarian cancer in carriers of an hMSH2 mutation?Q53914199
Mutator phenotypes of common polymorphisms and missense mutations in MSH2.Q54360036
Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.Q54498470
RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.Q54501613
Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.Q54559294
Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.Q54576487
Microsatellite instability in colorectal adenocarcinoma cell lines that have full-length adenomatous polyposis coli proteinQ54601125
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.Q54627316
Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene.Q54645718
Molecular diagnosis of familial adenomatous polyposis.Q54646463
The gene for familial polyposis coli maps to the long arm of chromosome 5.Q54757912
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignanciesQ55670368
A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spotsQ55670481
A database to support the interpretation of human mismatch repair gene variantsQ57200486
Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patientsQ57570041
Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317QQ57742277
Functional Characterization of the Novel APC N1026S Variant Associated With Attenuated Familial Adenomatous PolyposisQ57882183
A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting Highlights and Bethesda GuidelinesQ57978042
APC gene: database of germline and somatic mutations in human tumors and cell linesQ58408799
Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal CancerQ61946741
Mutations in the APC tumour suppressor gene cause chromosomal instabilityQ62024148
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)Q62978412
Heteroduplex repair in extracts of human HeLa cellsQ68198738
Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC proteinQ71131035
Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genesQ71733947
P433issue1-2
P407language of work or nameEnglishQ1860
P921main subjectcolorectal cancerQ188874
phenotypeQ104053
colorectal carcinomaQ25493920
P304page(s)32-45
P577publication date2009-09-17
P1433published inMutation ResearchQ6943732
P1476titleGenotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families
P478volume693

Reverse relations

cites work (P2860)
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