(Q38262826)

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21 February 2020

review article

1 reference

title

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome (English)

1 reference

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21 February 2020

1 reference

2

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21 February 2020

Antonio Percesepe

4

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21 February 2020

Aldo Tomasi

5

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21 February 2020

author name string

G Ponti

1

1 reference

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21 February 2020

C Ruini

3

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21 February 2020

publication date

9 December 2014

1 reference

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21 February 2020

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21 February 2020

volume

87

1 reference

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21 February 2020

issue

6

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21 February 2020

page(s)

507-516

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The history of Lynch syndrome

21 February 2020

cites work

1 reference

Foreword for "100 years of Lynch syndrome".

21 January 2018

1 reference

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

21 January 2018

1 reference

Mutation of a mutL homolog in hereditary colon cancer

21 January 2018

1 reference

Epigenetic mechanisms in the pathogenesis of Lynch syndrome.

21 January 2018

1 reference

New developments in Lynch syndrome (hereditary nonpolyposis colorectal cancer) and mismatch repair gene testing

21 January 2018

1 reference

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

21 January 2018

1 reference

LOVD v.2.0: the next generation in gene variant databases

21 January 2018

1 reference

A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome

21 January 2018

1 reference

Estimating the age of mutant disease alleles based on linkage disequilibrium

21 January 2018

1 reference

Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping

21 January 2018

1 reference

Using linked markers to infer the age of a mutation

21 January 2018

1 reference

High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence

21 January 2018

1 reference

DMLE+: Bayesian linkage disequilibrium gene mapping.

21 January 2018

1 reference

21 January 2018

Estimating allele age.

1 reference

Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review

21 January 2018

1 reference

The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event

21 January 2018

1 reference

Balearic archipelago: three islands, three beta-thalassemia population patterns.

21 January 2018

1 reference

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

21 January 2018

1 reference

Founder mutations in xeroderma pigmentosum.

21 January 2018

1 reference

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer

21 January 2018

1 reference

Detection of genetic alterations in hereditary colorectal cancer screening

21 January 2018

1 reference

Founding mutations and Alu-mediated recombination in hereditary colon cancer

21 January 2018

1 reference

Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression

21 January 2018

1 reference

Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation.

21 January 2018

1 reference

MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population

21 January 2018

1 reference

The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.

21 January 2018

1 reference

Recurrent germline mutation in MSH2 arises frequently de novo

21 January 2018

1 reference

EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome

21 January 2018

1 reference

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin

21 January 2018

1 reference

A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting

21 January 2018

1 reference

Recurrent and founder mutations in the PMS2 gene.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic anthropology of the colorectal cancer-susceptibility allele APC I1307K: evidence of genetic drift within the Ashkenazim

21 January 2018

1 reference

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population

21 January 2018

1 reference

Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome

21 January 2018

1 reference

The HNPCC associated MSH2*1906G-->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population.

21 January 2018

1 reference

Constitutional mismatch repair-deficiency syndrome

21 January 2018

1 reference

A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Origins and prevalence of the American Founder Mutation of MSH2.

21 January 2018

1 reference

American founder mutation for Lynch syndrome. Prevalence estimates and implications

21 January 2018

1 reference

Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.

21 January 2018

1 reference

An American founder mutation in MLH1.

21 January 2018

1 reference

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

21 January 2018

1 reference

Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.

21 January 2018

1 reference

Inheritance of a Cancer-AssociatedMLH1Germ-Line Epimutation

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutation spectrum in South American Lynch syndrome families

21 January 2018

1 reference

Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

21 January 2018

1 reference

A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.

21 January 2018

1 reference

Next generation sequencing and the future of genetic diagnosis

21 January 2018

1 reference

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

21 January 2018

1 reference

New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife.

21 January 2018

1 reference

Cancer Risks For Mismatch Repair Gene Mutation Carriers: A Population-Based Early Onset Case-Family Study

21 January 2018

1 reference

Risks of Lynch syndrome cancers for MSH6 mutation carriers

21 January 2018

1 reference

A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.

21 January 2018

1 reference

A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome

21 January 2018

1 reference

A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia

21 January 2018

1 reference

Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.

21 January 2018

1 reference

Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.

21 January 2018

1 reference

Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation.

21 January 2018

1 reference

High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.

21 January 2018

1 reference

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

21 January 2018

1 reference

No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer

21 January 2018

1 reference

The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry

21 January 2018

1 reference

A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts

21 January 2018

1 reference

MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

21 January 2018

1 reference

Characterization of New Founder Alu-Mediated Rearrangements in MSH2 Gene Associated with a Lynch Syndrome Phenotype

21 January 2018

1 reference

Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer

21 January 2018

1 reference

Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome

21 January 2018

1 reference

Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families

21 January 2018

1 reference

Mutational analyses ofBRCA1 andBRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer

21 January 2018

0 references

Identifiers

DOI

10.1111/CGE.12529

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25345868%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

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