Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

Epigenetic mechanisms in the pathogenesis of Lynch syndrome

(2014) P. Peltomäki   CLINICAL GENETICS

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

(2014) Iolanda Borelli et al.   Familial Cancer

Next Generation Sequencing and the Future of Genetic Diagnosis

(2014) Katja Lohmann et al.   Neurotherapeutics

Identification of a founderEPCAMdeletion in Spanish Lynch syndrome families

(2013) P. Mur et al.   CLINICAL GENETICS

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

(2013) Chau-To Kwok et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Foreword for “100 years of Lynch syndrome”

(2013) Henry T. Lynch et al.   Familial Cancer

Lynch Syndrome in high risk Ashkenazi Jews in Israel

(2013) Yael Goldberg et al.   Familial Cancer

The History of Lynch Syndrome

(2013) C. Richard Boland et al.   Familial Cancer

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

(2013) Hans F A Vasen et al.   GUT

A Comprehensive Focus on Global Spectrum ofBRCA1andBRCA2Mutations in Breast Cancer

(2013) Fatemeh Karami et al.   Biomed Research International

TheMSH2c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families

(2012) M Pinheiro et al.   CLINICAL GENETICS

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

(2012) H López-Escribano et al.   CLINICAL GENETICS

Recurrent and founder mutations in thePMS2gene

(2012) J Tomsic et al.   CLINICAL GENETICS

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

(2012) Marija Hiljadnikova-Bajro et al.   CROATIAN MEDICAL JOURNAL

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

(2012) Iolanda Borelli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2012) Christina Therkildsen et al.   Familial Cancer

ColoSeq Provides Comprehensive Lynch and Polyposis Syndrome Mutational Analysis Using Massively Parallel Sequencing

(2012) Colin C. Pritchard et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

(2011) Megan P. Hitchins et al.   CANCER CELL

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

(2011) L. Perez-Cabornero et al.   Cancer Prevention Research

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

(2011) Mev Dominguez Valentin et al.   Familial Cancer

Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation

(2011) Patrizia Lastella et al.   Familial Cancer

Novel MLH1 duplication identified in Colombian families with Lynch syndrome

(2011) Virginia Alonso-Espinaco et al.   GENETICS IN MEDICINE

A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families

(2011) Manuela Pinheiro et al.   GENETICS IN MEDICINE

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

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

An American founder mutation in MLH1

(2011) Jerneja Tomsic et al.   INTERNATIONAL JOURNAL OF CANCER

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

(2011) M. Morak et al.   JOURNAL OF MEDICAL GENETICS

MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

(2010) E. Borras et al.   CANCER RESEARCH

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

(2010) M Menéndez et al.   CLINICAL GENETICS

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

(2010) L Raskin et al.   CLINICAL GENETICS

Constitutional mismatch repair-deficiency syndrome

(2010) K. Wimmer et al.   HAEMATOLOGICA

Founder Mutations in Xeroderma Pigmentosum

(2010) Deborah Tamura et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Germ lineMLH1andMSH2mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in theMLH1gene

(2009) R Tang et al.   CLINICAL GENETICS

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

(2009) HT Lynch et al.   CLINICAL GENETICS

HLA-A3-B14 and the origin of the haemochromatosis C282Y mutation: founder effects and recombination events during 12 generations in a Scandinavian family with major iron overload

(2009) K. Sigvard Olsson et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

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

(2009) Glenn E Palomaki et al.   GENETICS IN MEDICINE

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

(2009) George Chong et al.   HUMAN MUTATION

Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers

(2009) Laura Baglietto et al.   JNCI-Journal of the National Cancer Institute

Detection of genetic alterations in hereditary colorectal cancer screening☆

(2009) Marta Pineda et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Origins and Prevalence of the American Founder Mutation of MSH2

(2008) M. Clendenning et al.   CANCER RESEARCH

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

(2008) Wenche Sjursen et al.   Familial Cancer

The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations

(2008) Leigha Senter et al.   GASTROENTEROLOGY

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

(2008) D Ramsoekh et al.   GUT

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

(2008) Marjolijn J L Ligtenberg et al.   NATURE GENETICS