Risk assessment and genetic counseling for Lynch syndrome – Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
出版年份 2022 全文链接
标题
Risk assessment and genetic counseling for Lynch syndrome – Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
作者
关键词
-
出版物
Journal of Genetic Counseling
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2022-01-10
DOI
10.1002/jgc4.1546
参考文献
相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。- Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
- (2021) Aung Ko Win et al. LANCET ONCOLOGY
- No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
- (2021) Mev Dominguez-Valentin et al. Journal of Clinical Medicine
- Relationship between MLH1, PMS2, MSH2, and MSH6 gene specific alterations and tumor mutational burden (TMB) in 1,057 microsatellite instability‐high solid tumors
- (2020) Mohamed E. Salem et al. INTERNATIONAL JOURNAL OF CANCER
- Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients
- (2020) Heather Hampel et al. GYNECOLOGIC ONCOLOGY
- Challenges and Opportunities for Cancer Predisposition Cascade Screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland: Findings from an International Workshop
- (2019) Christos Nikolaidis et al. Public Health Genomics
- Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome
- (2019) Rachel Pearlman et al. JOURNAL OF MEDICAL GENETICS
- Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
- (2019) Mev Dominguez-Valentin et al. GENETICS IN MEDICINE
- How to inform relatives at risk of hereditary diseases? A mixed-methods systematic review on patient attitudes
- (2019) L.M. van den Heuvel et al. Journal of Genetic Counseling
- Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up†
- (2019) N Stjepanovic et al. ANNALS OF ONCOLOGY
- Japanese Society of Medical Oncology Clinical Guidelines: Molecular Testing for Colorectal Cancer Treatment, Third Edition
- (2018) Kentaro Yamazaki et al. CANCER SCIENCE
- Community Practice Implementation of a Self-administered Version of PREMM 1,2,6 to Assess Risk for Lynch Syndrome
- (2018) Daniel G. Luba et al. Clinical Gastroenterology and Hepatology
- The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice
- (2018) Fred H Menko et al. Familial Cancer
- MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer
- (2018) Maegan E Roberts et al. GENETICS IN MEDICINE
- Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature
- (2018) Megan C. Roberts et al. HEALTH AFFAIRS
- Real world experience of BRAFV600E mutation specific immunohistochemistry in colorectal carcinoma
- (2018) Jessica Reagh et al. PATHOLOGY
- Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer
- (2018) Heather Hampel et al. JAMA Oncology
- Cancer Risks for PMS2-Associated Lynch Syndrome
- (2018) Sanne W. ten Broeke et al. JOURNAL OF CLINICAL ONCOLOGY
- Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer
- (2018) Alicia Latham et al. JOURNAL OF CLINICAL ONCOLOGY
- Family history in colonoscopy patients: feasibility and performance of electronic and paper-based surveys for colorectal cancer risk assessment in the outpatient setting
- (2017) Tannaz Guivatchian et al. GASTROINTESTINAL ENDOSCOPY
- Development and Validation of the PREMM5 Model for Comprehensive Risk Assessment of Lynch Syndrome
- (2017) Fay Kastrinos et al. JOURNAL OF CLINICAL ONCOLOGY
- Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer
- (2017) Matthew B. Yurgelun et al. JOURNAL OF CLINICAL ONCOLOGY
- Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
- (2017) Marilyn M. Li et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- A tailored approach to BRAF and MLH1 methylation testing in a universal screening program for Lynch syndrome
- (2017) Tomer Adar et al. MODERN PATHOLOGY
- Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden
- (2017) Zachary R. Chalmers et al. Genome Medicine
- Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer
- (2017) Rachel Pearlman et al. JAMA Oncology
- Point: Justification for Lynch Syndrome Screening Among All Patients With Newly Diagnosed Colorectal Cancer
- (2017) Heather Hampel Journal of the National Comprehensive Cancer Network
- Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
- (2016) Ronja Adam et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Isolated Loss of PMS2 Immunohistochemical Expression is Frequently Caused by Heterogenous MLH1 Promoter Hypermethylation in Lynch Syndrome Screening for Endometrial Cancer Patients
- (2016) Aya Kato et al. AMERICAN JOURNAL OF SURGICAL PATHOLOGY
- Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol
- (2016) F. Meric-Bernstam et al. ANNALS OF ONCOLOGY
- Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer
- (2016) Aung Ko Win et al. CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
- Reliable Detection of Mismatch Repair Deficiency in Colorectal Cancers Using Mutational Load in Next-Generation Sequencing Panels
- (2016) Zsofia K. Stadler et al. JOURNAL OF CLINICAL ONCOLOGY
- Performance evaluation for rapid detection of pan-cancer microsatellite instability with MANTIS
- (2016) Esko A. Kautto et al. Oncotarget
- Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA
- (2016) Kasmintan A. Schrader et al. JAMA Oncology
- Screening for Lynch Syndrome: A No-Brainer
- (2015) Andrew M. Bellizzi AMERICAN JOURNAL OF CLINICAL PATHOLOGY
- A Modified Lynch Syndrome Screening Algorithm in Colon Cancer
- (2015) Rachel M. Roth et al. AMERICAN JOURNAL OF CLINICAL PATHOLOGY
- POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
- (2015) Fernando Bellido et al. GENETICS IN MEDICINE
- Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
- (2015) Lisa R. Susswein et al. GENETICS IN MEDICINE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
- (2015) Pål Møller et al. GUT
- American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility
- (2015) Mark E. Robson et al. JOURNAL OF CLINICAL ONCOLOGY
- Risk of Prostate Cancer in Lynch Syndrome: A Systematic Review and Meta-analysis
- (2014) S. Ryan et al. CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
- Microsatellite Instability Detection by Next Generation Sequencing
- (2014) S. J. Salipante et al. CLINICAL CHEMISTRY
- Replicative DNA polymerase mutations in cancer
- (2014) Ellen Heitzer et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium
- (2014) Doua Bakry et al. EUROPEAN JOURNAL OF CANCER
- Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer
- (2014) Fadwa A Elsayed et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Biallelic MUTYH mutations can mimic Lynch syndrome
- (2014) Monika Morak et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Colon and Endometrial Cancers With Mismatch Repair Deficiency Can Arise From Somatic, Rather Than Germline, Mutations
- (2014) Sigurdis Haraldsdottir et al. GASTROENTEROLOGY
- Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer
- (2014) Francis M. Giardiello et al. GASTROENTEROLOGY
- Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients
- (2014) Holly LaDuca et al. GENETICS IN MEDICINE
- Prostate cancer incidence in males with Lynch syndrome
- (2014) Sigurdis Haraldsdottir et al. GENETICS IN MEDICINE
- New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis
- (2014) Laura Valle et al. HUMAN MOLECULAR GENETICS
- Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
- (2014) Katharina Wimmer et al. JOURNAL OF MEDICAL GENETICS
- Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers
- (2014) Willemina RR Geurts-Giele et al. JOURNAL OF PATHOLOGY
- BRAFV600E Immunohistochemistry Facilitates Universal Screening of Colorectal Cancers for Lynch Syndrome
- (2013) Christopher W. Toon et al. AMERICAN JOURNAL OF SURGICAL PATHOLOGY
- MSIsensor: microsatellite instability detection using paired tumor-normal sequence data
- (2013) Beifang Niu et al. BIOINFORMATICS
- Classifying MMR Variants: Time for Revised Nomenclature in Lynch Syndrome
- (2013) Y. N. You et al. CLINICAL CANCER RESEARCH
- Risk of Cancer in Cases of Suspected Lynch Syndrome Without Germline Mutation
- (2013) María Rodríguez–Soler et al. GASTROENTEROLOGY
- Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors
- (2013) Arjen R. Mensenkamp et al. GASTROENTEROLOGY
- Criteria and prediction models for mismatch repair gene mutations: a review
- (2013) Aung Ko Win et al. JOURNAL OF MEDICAL GENETICS
- Performance of PREMM1,2,6, MMRpredict and MMRpro in detecting Lynch syndrome among endometrial cancer cases
- (2012) Rowena C. Mercado et al. GENETICS IN MEDICINE
- Risks of Less Common Cancers in Proven Mutation Carriers With Lynch Syndrome
- (2012) Christoph Engel et al. JOURNAL OF CLINICAL ONCOLOGY
- Performance of Lynch Syndrome Predictive Models in a Multi-Center US Referral Population
- (2011) Omar Khan et al. AMERICAN JOURNAL OF GASTROENTEROLOGY
- 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
- Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome
- (2011) Valérie Bonadona JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer
- (2010) Mercy Mvundura et al. GENETICS IN MEDICINE
- Genetic Counseling Considerations in the Evaluation of Families for Lynch Syndrome—A Review
- (2010) Scott M. Weissman et al. Journal of Genetic Counseling
- Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers
- (2010) R. S. van der Post et al. JOURNAL OF MEDICAL GENETICS
- 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
- (2009) GENETICS IN MEDICINE
- 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
- Prospective evaluation of DNA mismatch repair protein expression in primary endometrial cancer
- (2009) Floor J. Backes et al. GYNECOLOGIC ONCOLOGY
- Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer
- (2009) M P Hitchins et al. JOURNAL OF MEDICAL GENETICS
- Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers
- (2009) Laura Baglietto et al. JNCI-Journal of the National Cancer Institute
- The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations
- (2008) Leigha Senter et al. GASTROENTEROLOGY
- Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer
- (2008) Heather Hampel et al. JOURNAL OF CLINICAL ONCOLOGY
- 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
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started