Lista de obras - Ian M Frayling - Dominio Público Uruguay

A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan

article

A model-based assessment of the cost-utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients

artículo científico publicado en 2015

A prospective study of neurofibromatosis type 1 cancer incidence in the UK.

artículo científico publicado en 2006

A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome

artículo científico publicado en 2014

A systematic review of test accuracy studies evaluating molecular micro-satellite instability testing for the detection of individuals with lynch syndrome.

artículo científico publicado en 2017

APC mutations in familial adenomatous polyposis families in the Northwest of England.

artículo científico publicado en 1997

Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q.

artículo científico publicado en 1997

Appearances can be deceptive: an APC 1893del4 mutation with unusual properities. Mutations in brief no. 171. Online

scientific article published on 01 January 1998

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

artículo científico publicado en 2013

Attenuated adenomatous polyposis coli

scientific article published on 01 August 1999

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

artículo científico publicado en 2003

Beta-catenin expression and allelic loss at APC in sporadic colorectal carcinogenesis.

artículo científico publicado en 2002

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

article

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

artículo científico publicado en 2015

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

artículo científico publicado en 2017

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 24 July 2019

Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation

artículo científico publicado en 2009

Colorectal Cancer Stratification in the Routine Clinical Pathway: A District General Hospital Experience

artículo científico publicado en 2019

Colorectal Cancer: Genetics

article

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

artículo científico publicado en 2017

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

artículo científico publicado en 2020

Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting

scientific article published on 30 August 2019

DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch syndrome.

artículo científico publicado en 2010

Detection of copy number changes at the NF1 locus with improved high-resolution array CGH

scientific article published on 01 September 2007

Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.

artículo científico publicado en 2006

Establishing pathogenicity of germline mismatch repair gene mutations: A Bayesian model

article

Evidence for the simultaneous expression of alternatively spliced alkylpurine N-glycosylase transcripts in human tissues and cells.

artículo científico publicado en 1994

Familial Adenomatous Polyposis

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics

scientific article published on 25 March 2019

Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas

artículo científico publicado en 1997

Gastric tumours in FAP.

artículo científico publicado en 2017

Gene panel testing for breast cancer should not be used to confirm syndromic gene associations

article

Genetic counselling and consent for tumour testing in HNPCC

artículo científico publicado en 2007

Genomic Applications in Clinical Pediatrics

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q

article

Germline PTEN mutations in Cowden syndrome-like families.

artículo científico publicado en 1998

Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).

artículo científico publicado en 2007

Guidelines for the clinical management of familial adenomatous polyposis (FAP).

artículo científico publicado en 2008

Hereditary Nonpolyposis Colorectal Cancer

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

artículo científico publicado en 2015

High endothelial venules are associated with microsatellite instability, hereditary background and immune evasion in colorectal cancer

scientific article published on 30 July 2019

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

artículo científico publicado en 2008

Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy

artículo científico publicado en 2014

Implementation and auditing of new genetics and tests: translating genetic tests into practice in the NHS

article

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

artículo científico publicado en 2016

Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.

artículo científico publicado en 2008

Inherited susceptibility to colorectal adenomas and carcinomas: Evidence for a new predisposition gene on 15q14-q22

article

Intron splice acceptor site sequence variation in the hereditary non-polyposis colorectal cancer gene hMSH2

article

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

scientific article published on 28 February 2019

Lynch syndrome - cancer pathways, heterogeneity and immune escape

MYH polyposis: A new autosomal recessive form of familial adenomatous polyposis due to defective base excision repair-reappraisal of genetic risk and family management

Microsatellite instability

artículo científico publicado en 1999

Molecular Pathology of Lynch Syndrome

scientific article published on 06 March 2020

Molecular classification and genetic pathways in hyperplastic polyposis syndrome

Molecular diagnosis of neurofibromatosis type 1: 2 years experience

artículo científico publicado en 2007

Molecular testing for somatic cancer mutations: a survey of current and future testing in UK laboratories

artículo científico publicado en 2008

Molecular testing for somatic mutations in common cancers: the views of UK oncologists

artículo científico publicado en 2008

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review

artículo científico publicado en 2015

Prevalence of the APC E1317Q variant in colorectal cancer patients

artículo científico publicado en 2000

Recommendations to improve identification of hereditary and familial colorectal cancer in Europe.

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH

article

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.

artículo científico publicado en 1998

The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study

scientific article published on 17 September 2020

The spectrum of p53 mutations in colorectal adenomas differs from that in colorectal carcinomas.

artículo científico publicado en 2002

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' hypothesis

artículo científico publicado en 1999

Universal consent form might help

artículo científico publicado en 2004

Unusual presentation of Lynch Syndrome

artículo científico publicado en 2009

Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria

artículo científico

Variability and inequity in testing of somatic tissue for hereditary cancer: a survey of UK clinical practice

artículo científico publicado en 2006

Lista de obras de Ian M Frayling

A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan

A model-based assessment of the cost-utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients

A prospective study of neurofibromatosis type 1 cancer incidence in the UK.

A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome

A systematic review of test accuracy studies evaluating molecular micro-satellite instability testing for the detection of individuals with lynch syndrome.

APC mutations in familial adenomatous polyposis families in the Northwest of England.

Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q.

Appearances can be deceptive: an APC 1893del4 mutation with unusual properities. Mutations in brief no. 171. Online

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

Attenuated adenomatous polyposis coli

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

Beta-catenin expression and allelic loss at APC in sporadic colorectal carcinogenesis.

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation

Colorectal Cancer Stratification in the Routine Clinical Pathway: A District General Hospital Experience

Colorectal Cancer: Genetics

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting

DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch syndrome.

Detection of copy number changes at the NF1 locus with improved high-resolution array CGH

Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.

Establishing pathogenicity of germline mismatch repair gene mutations: A Bayesian model

Evidence for the simultaneous expression of alternatively spliced alkylpurine N-glycosylase transcripts in human tissues and cells.

Familial Adenomatous Polyposis

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics

Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas

Gastric tumours in FAP.

Gene panel testing for breast cancer should not be used to confirm syndromic gene associations

Genetic counselling and consent for tumour testing in HNPCC

Genomic Applications in Clinical Pediatrics

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q

Germline PTEN mutations in Cowden syndrome-like families.

Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).

Guidelines for the clinical management of familial adenomatous polyposis (FAP).

Hereditary Nonpolyposis Colorectal Cancer

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

High endothelial venules are associated with microsatellite instability, hereditary background and immune evasion in colorectal cancer

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy

Implementation and auditing of new genetics and tests: translating genetic tests into practice in the NHS

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.

Inherited susceptibility to colorectal adenomas and carcinomas: Evidence for a new predisposition gene on 15q14-q22

Intron splice acceptor site sequence variation in the hereditary non-polyposis colorectal cancer gene hMSH2

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

Lynch syndrome - cancer pathways, heterogeneity and immune escape

MYH polyposis: A new autosomal recessive form of familial adenomatous polyposis due to defective base excision repair-reappraisal of genetic risk and family management

Microsatellite instability

Molecular Pathology of Lynch Syndrome

Molecular classification and genetic pathways in hyperplastic polyposis syndrome

Molecular diagnosis of neurofibromatosis type 1: 2 years experience

Molecular testing for somatic cancer mutations: a survey of current and future testing in UK laboratories

Molecular testing for somatic mutations in common cancers: the views of UK oncologists

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review

Prevalence of the APC E1317Q variant in colorectal cancer patients

Recommendations to improve identification of hereditary and familial colorectal cancer in Europe.

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

Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.

The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study

The spectrum of p53 mutations in colorectal adenomas differs from that in colorectal carcinomas.

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' hypothesis

Universal consent form might help

Unusual presentation of Lynch Syndrome

Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria

Variability and inequity in testing of somatic tissue for hereditary cancer: a survey of UK clinical practice