An American founder mutation in MLH1.

scientific article published on 30 August 2011

An American founder mutation in MLH1. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/IJC.26233
P932PMC publication ID3266960
P698PubMed publication ID21671475
P5875ResearchGate publication ID51217544

P50authorAlbert de la ChapelleQ5618748
Sandya LiyanarachchiQ43376214
Elke Holinski-FederQ43376219
Alessandra VielQ55128539
Heather HampelQ58190685
Brittany C ThomasQ96148690
Anu ChittendenQ115312265
Jerneja TomsicQ117262581
P2093author name stringSapna Syngal
Stephen B Gruber
Hans K Schackert
Stephen N Thibodeau
Victoria M Raymond
Monika Morak
P2860cites workA New Statistical Method for Haplotype Reconstruction from Population DataQ27860495
Population growth of human Y chromosomes: a study of Y chromosome microsatellitesQ28140844
A comparison of bayesian methods for haplotype reconstruction from population genotype dataQ29547566
Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVIDQ33678784
Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactionsQ33739955
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 geneQ33904639
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish populationQ34161196
Founding mutations and Alu-mediated recombination in hereditary colon cancerQ34297390
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndromeQ35119757
A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancerQ35431445
Recurrent germline mutation in MSH2 arises frequently de novoQ35435822
Extensive molecular screening for hereditary non-polyposis colorectal cancerQ36641429
Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.Q36696628
Feasibility of screening for Lynch syndrome among patients with colorectal cancerQ37103121
Conversion of diploidy to haploidyQ40897610
Age and origin of two common MLH1 mutations predisposing to hereditary colon cancerQ42011353
Estimating the age of rare disease mutations: the example of Triple-A syndrome.Q43073641
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.Q43741162
A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United StatesQ46655105
Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.Q51935195
DMLE+: Bayesian linkage disequilibrium gene mapping.Q52038187
Origins and prevalence of the American Founder Mutation of MSH2.Q54539477
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancerQ57569926
Interpretation of Genetic Test Results for Hereditary Nonpolyposis Colorectal CancerQ57591274
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2Q57737996
Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1Q59273262
Integrated analysis of unclassified variants in mismatch repair genesQ63884145
In vitro transcription/translation assay for the screening of hMLH1 and hMSH2 mutations in familial colon cancerQ71737275
Mutational analysis of MLH1 and MSH2 in 25 prospectively-acquired RER+ endometrial cancersQ73157872
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patientsQ80050907
Hereditary nonpolyposis colorectal cancer: an approach to the selection of candidates to genetic testing based on clinical and molecular characteristicsQ80163047
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assaysQ80352228
Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer PatientsQ81381640
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancerQ81682251
P433issue9
P407language of work or nameEnglishQ1860
P304page(s)2088-2095
P577publication date2011-08-30
P1433published inInternational Journal of CancerQ332492
P1476titleAn American founder mutation in MLH1.
P478volume130

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cites work (P2860)
Q90523907A Novel Germline MLH1 In-Frame Deletion in a Slovenian Lynch Syndrome Family Associated with Uncommon Isolated PMS2 Loss in Tumor Tissue
Q54210037A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.
Q50556962Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation.
Q47177393Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.
Q38262826Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.
Q89459818Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics
Q36243503Recurrent and founder mutations in the PMS2 gene.

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