Milestones of Lynch syndrome: 1895-2015. (Q43864989)

27 November 2017

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title

Milestones of Lynch syndrome: 1895-2015. (English)

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27 November 2017

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Henry T Lynch

1

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27 November 2017

Carrie L Snyder

2

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27 November 2017

Trudy G Shaw

3

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27 November 2017

Christopher D Heinen

4

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27 November 2017

Megan P Hitchins

5

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27 November 2017

language of work or name

English

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publication date

12 February 2015

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27 November 2017

published in

Nature Reviews Cancer

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27 November 2017

volume

15

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27 November 2017

issue

3

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27 November 2017

page(s)

181-194

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Recurrent germline mutation in MSH2 arises frequently de novo

27 November 2017

cites work

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Hereditary factors in cancer. Study of two large midwestern kindreds

31 March 2020

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Cancer family “G” revisited: 1895-1970

31 March 2020

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History and molecular genetics of Lynch syndrome in family G: a century later

31 March 2020

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Familial colonic cancer without antecedent polyposis

31 March 2020

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Serum and hair selenium levels in hereditary nonpolyposis colorectal cancer

31 March 2020

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Evolution of the nomenclature for the hereditary colorectal cancer syndromes

31 March 2020

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Hereditary Non-Polyposis Colorectal Cancer: the rise and fall of a confusing term

31 March 2020

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Hereditary proximal colonic cancer

31 March 2020

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Nonpolypoid colorectal neoplasms: a challenge in endoscopic surveillance of patients with Lynch syndrome.

31 March 2020

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The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome.

31 March 2020

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The Cancer Family Syndrome Rare Cutaneous Phenotypic Linkage of Torre's Syndrome

31 March 2020

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Risk of pancreatic cancer in families with Lynch syndrome

31 March 2020

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Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study

31 March 2020

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Hereditary prostate cancer as a feature of Lynch syndrome

31 March 2020

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Adrenocortical carcinoma is a lynch syndrome-associated cancer

31 March 2020

1 reference

The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)

31 March 2020

1 reference

New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

31 March 2020

1 reference

A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting Highlights and Bethesda Guidelines

31 March 2020

1 reference

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

31 March 2020

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DNA chain length dependence of formation and dynamics of hMutSalpha.hMutLalpha.heteroduplex complexes

31 March 2020

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Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli

31 March 2020

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High frequencies of short frameshifts in poly-CA/TG tandem repeats borne by bacteriophage M13 in Escherichia coli K-12.

31 March 2020

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Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair

31 March 2020

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Clues to the pathogenesis of familial colorectal cancer

31 March 2020

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Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis

31 March 2020

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Microsatellite instability in cancer of the proximal colon

31 March 2020

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Hypermutability and mismatch repair deficiency in RER+ tumor cells

31 March 2020

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Genetic instabilities in human cancers

31 March 2020

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Tumor infiltrating lymphocytes: an intriguing player in the survival of colorectal cancer patients

31 March 2020

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Colorectal adenoma stem-like cell populations: associations with adenoma characteristics and metachronous colorectal neoplasia

31 March 2020

1 reference

Genetic mapping of a locus predisposing to human colorectal cancer

31 March 2020

1 reference

Genetic mapping of a second locus predisposing to hereditary non–polyposis colon cancer

31 March 2020

1 reference

The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer

31 March 2020

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Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

31 March 2020

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Mutation of a mutL homolog in hereditary colon cancer

31 March 2020

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Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer

31 March 2020

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Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

31 March 2020

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Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer

31 March 2020

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MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability

31 March 2020

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A role for MLH3 in hereditary nonpolyposis colorectal cancer

31 March 2020

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The first functional study of MLH3 mutations found in cancer patients

31 March 2020

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Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome

31 March 2020

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Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future

31 March 2020

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Founding mutations and Alu-mediated recombination in hereditary colon cancer

31 March 2020

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Insertion of a short Alu sequence into the hMSH2 gene following a double cross over next to sequences with chi homology

31 March 2020

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MSH2 genomic deletions are a frequent cause of HNPCC

31 March 2020

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Conversion of diploidy to haploidy

31 March 2020

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Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach

31 March 2020

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The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.

31 March 2020

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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 gene

31 March 2020

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A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States

31 March 2020

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Long-range PCR facilitates the identification of PMS2-specific mutations.

31 March 2020

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The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene

31 March 2020

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PMS2 gene mutational analysis: direct cDNA sequencing to circumvent pseudogene interference.

31 March 2020

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ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing

31 March 2020

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The role of epigenetics in Lynch syndrome

31 March 2020

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MLH1 Germline Epimutations as a Factor in Hereditary Nonpolyposis Colorectal Cancer

31 March 2020

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Dominantly Inherited Constitutional Epigenetic Silencing of MLH1 in a Cancer-Affected Family Is Linked to a Single Nucleotide Variant within the 5′UTR

31 March 2020

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Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome

31 March 2020

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The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype

31 March 2020

1 reference

Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer

31 March 2020

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Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.

31 March 2020

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Reconstitution of 5'-directed human mismatch repair in a purified system

31 March 2020

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Human mismatch repair: reconstitution of a nick-directed bidirectional reaction

31 March 2020

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DNA mismatch repair: molecular mechanism, cancer, and ageing

31 March 2020

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31 March 2020

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hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6

31 March 2020

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HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions

31 March 2020

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The human mismatch recognition complex hMSH2-hMSH6 functions as a novel molecular switch

31 March 2020

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hMSH2-hMSH6 forms a hydrolysis-independent sliding clamp on mismatched DNA

31 March 2020

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The coordinated functions of the E. coli MutS and MutL proteins in mismatch repair

31 March 2020

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Biochemical analysis of the human mismatch repair proteins hMutSα MSH2(G674A)-MSH6 and MSH2-MSH6(T1219D)

31 March 2020

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Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse

31 March 2020

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Endonucleolytic function of MutLalpha in human mismatch repair

31 March 2020

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PCNA function in the activation and strand direction of MutLα endonuclease in mismatch repair

31 March 2020

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A defined human system that supports bidirectional mismatch-provoked excision

31 March 2020

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Strand-specific mismatch correction in nuclear extracts of human and Drosophila melanogaster cell lines

31 March 2020

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A possible mechanism for exonuclease 1-independent eukaryotic mismatch repair

31 March 2020

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Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer

31 March 2020

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Identification of mismatch repair genes and their role in the development of cancer

31 March 2020

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Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability

31 March 2020

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Tumor suppressor activity of the TGF-beta pathway in human cancers

31 March 2020

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APC mutations in colorectal tumors with mismatch repair deficiency

31 March 2020

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Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype.

31 March 2020

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Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability

31 March 2020

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Comprehensive molecular characterization of human colon and rectal cancer

31 March 2020

1 reference

Diversity of the clinical presentation of the MMR gene biallelic mutations

31 March 2020

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Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis.

31 March 2020

1 reference

MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families.

31 March 2020

1 reference

Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations

31 March 2020

1 reference

A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome

31 March 2020

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Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

31 March 2020

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Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance

31 March 2020

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Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

31 March 2020

1 reference

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant

31 March 2020

1 reference

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

31 March 2020

1 reference

Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer

31 March 2020

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Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

31 March 2020

1 reference

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

31 March 2020

1 reference

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

31 March 2020

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Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion

31 March 2020

1 reference

Phenotypic heterogeneity in hereditary non-polyposis colorectal cancer: identical germline mutations associated with variable tumour morphology and immunohistochemical expression.

31 March 2020

1 reference

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

31 March 2020

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Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations

31 March 2020

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Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors

31 March 2020

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Feasibility of screening for Lynch syndrome among patients with colorectal cancer

31 March 2020

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Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer

31 March 2020

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Microsatellite instability in colorectal cancer

31 March 2020

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Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers.

31 March 2020

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BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer

31 March 2020

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Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer.

31 March 2020

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BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

31 March 2020

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ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).

31 March 2020

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Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays

31 March 2020

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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

31 March 2020

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Structure of the human MutSalpha DNA lesion recognition complex

31 March 2020

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What you don't know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing

31 March 2020

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Exploring psychological responses to genetic testing for Lynch Syndrome within the family context

31 March 2020

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Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction

31 March 2020

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Genomic signatures to guide the use of chemotherapeutics.

31 March 2020

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Translating mismatch repair mechanism into cancer care

31 March 2020

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The multifaceted mismatch-repair system

31 March 2020

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Mismatch correction at O 6 -methylguanine residues in E. coli DNA

31 March 2020

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An alkylation-tolerant, mutator human cell line is deficient in strand-specific mismatch repair.

31 March 2020

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Mismatch repair and DNA damage signalling

31 March 2020

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Use of 5-fluorouracil and survival in patients with microsatellite-unstable colorectal cancer

31 March 2020

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The efficacy of adjuvant chemotherapy with 5-fluorouracil in colorectal cancer depends on the mismatch repair status.

31 March 2020

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Molecular pathways: microsatellite instability in colorectal cancer: prognostic, predictive, and therapeutic implications

31 March 2020

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DNA mismatch repair-dependent response to fluoropyrimidine-generated damage.

31 March 2020

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The mismatch repair-mediated cell cycle checkpoint response to fluorodeoxyuridine

31 March 2020

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Molecular and prognostic heterogeneity of microsatellite-unstable colorectal cancer.

31 March 2020

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Microsatellite instability predicts improved response to adjuvant therapy with irinotecan, fluorouracil, and leucovorin in stage III colon cancer: Cancer and Leukemia Group B Protocol 89803.

31 March 2020

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Predictive biomarkers of chemotherapy efficacy in colorectal cancer: results from the UK MRC FOCUS trial

31 March 2020

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Association between deficient mismatch repair system and efficacy to irinotecan-containing chemotherapy in metastatic colon cancer

31 March 2020

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Parallel high-throughput RNA interference screens identify PINK1 as a potential therapeutic target for the treatment of DNA mismatch repair-deficient cancers

31 March 2020

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DNA polymerases as potential therapeutic targets for cancers deficient in the DNA mismatch repair proteins MSH2 or MLH1

31 March 2020

1 reference

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome

31 March 2020

1 reference

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

31 March 2020

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Aspirin and low-dose nitric oxide-donating aspirin increase life span in a Lynch syndrome mouse model

31 March 2020

1 reference

Re: Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

31 March 2020

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Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer

31 March 2020

1 reference

Prophylactic Surgery to Reduce the Risk of Gynecologic Cancers in the Lynch Syndrome

31 March 2020

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The results of gynecologic surveillance in families with hereditary nonpolyposis colorectal cancer

31 March 2020

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Prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer

31 March 2020

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Is there a role for prophylactic subtotal colectomy among hereditary nonpolyposis colorectal cancer germline mutation carriers?

31 March 2020

1 reference

Lynch syndrome: implications for the surgeon

31 March 2020

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Comparison of extended colectomy and limited resection in patients with Lynch syndrome

31 March 2020

1 reference

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

31 March 2020

1 reference

MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.

31 March 2020

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Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

31 March 2020

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Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer

31 March 2020

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Biallelic MUTYH mutations can mimic Lynch syndrome

31 March 2020

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Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP.

31 March 2020

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Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X

31 March 2020

1 reference

Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer

31 March 2020

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Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway

31 March 2020

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Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability status

31 March 2020

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BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency.

31 March 2020

1 reference

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency

31 March 2020

1 reference

Familial colorectal cancer type X: the other half of hereditary nonpolyposis colon cancer syndrome

31 March 2020

1 reference

Communication and technology in genetic counseling for familial cancer.

31 March 2020

1 reference

The tumour spectrum in hereditary non-polyposis colorectal cancer: A study of 24 kindreds in the netherlands

31 March 2020

1 reference

Isolation of an hMSH2-p160 Heterodimer That Restores DNA Mismatch Repair to Tumor Cells

31 March 2020

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GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells

31 March 2020

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Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database

31 March 2020

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Inheritance of a Cancer-AssociatedMLH1Germ-Line Epimutation

31 March 2020

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Unicryptal loss of heterozygosity in hereditary non-polyposis colorectal cancer

31 March 2020

1 reference

Microsatellite instability and DNA mismatch repair protein deficiency in Lynch syndrome colorectal polyps

31 March 2020

1 reference

Frameshift-mutation-derived peptides as tumor-specific antigens in inherited and spontaneous colorectal cancer

31 March 2020

1 reference

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer

31 March 2020

1 reference

12 December 2020

Instabilotyping: comprehensive identification of frameshift mutations caused by coding region microsatellite instability.

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12 December 2020

Surveillance in Lynch syndrome: how aggressive?

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12 December 2020

Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability

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12 December 2020

Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instability

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12 December 2020

A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer

1 reference

12 December 2020

The role of hMLH3 in familial colorectal cancer

1 reference

12 December 2020

A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor

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12 December 2020

Minimal genetic findings and their cancer control implications. A family with the cancer family syndrome

1 reference

12 December 2020

Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines

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12 December 2020

The role of hPMS1 and hPMS2 in predisposing to colorectal cancer

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12 December 2020

Colorectal carcinoma survival among hereditary nonpolyposis colorectal carcinoma family members.

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12 December 2020

Pathology of hereditary non-polyposis colorectal cancer

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12 December 2020

Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset colorectal cancer

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12 December 2020

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1

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12 December 2020

Methyl-directed DNA mismatch correction.

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12 December 2020

The tumor spectrum in HNPCC.

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12 December 2020

Mechanisms of spontaneous and induced frameshift mutation in bacteriophage T4.

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12 December 2020

The cancer family syndrome and cancer control

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12 December 2020

Neurofibromatosis and early onset of cancers in hMLH1-deficient children

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12 December 2020

The DNA mismatch repair genes Msh3 and Msh6 cooperate in intestinal tumor suppression

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12 December 2020

Errors in DNA replication as a basis of malignant changes

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12 December 2020

Hereditary cancer, oncogenes, and antioncogenes.

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12 December 2020

Microsatellite instability is a predictive factor of the tumor response to irinotecan in patients with advanced colorectal cancer

1 reference

12 December 2020

Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes

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12 December 2020

Carrier risk status changes resulting from mutation testing in hereditary non-polyposis colorectal cancer and hereditary breast-ovarian cancer

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12 December 2020

Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

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12 December 2020

Identifiers

DOI

10.1038/NRC3878

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Dimensions Publication ID

27 November 2017

1029515742

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