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。Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors
Julie Leclerc et al.
CANCERS (2021)
Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population
Erin E. Salo-Mullen et al.
JCO PRECISION ONCOLOGY (2021)
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients
Holly LaDuca et al.
GENETICS IN MEDICINE (2020)
Cumulative Burden of Colorectal Cancer Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer
Alexi N. Archambault et al.
GASTROENTEROLOGY (2020)
A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis
Bryony A. Thompson et al.
CLINICAL GENETICS (2020)
Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer
Stephanie A. Schubert et al.
GENES CHROMOSOMES & CANCER (2020)
Population genetic screening efficiently identifies carriers of autosomal dominant diseases
J. J. Grzymski et al.
NATURE MEDICINE (2020)
Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer
Fadwa A. Elsayed et al.
GASTROENTEROLOGY (2020)
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients
Malene Djursby et al.
FRONTIERS IN GENETICS (2020)
Clinical and Molecular Comparative Study of Colorectal Cancer Based on Age-of-Onset and Tumor Location: Two Main Criteria for Subclassifying Colorectal Cancer
Edurne Alvaro et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Update on genetic predisposition to colorectal cancer and polyposis
Laura Valle et al.
MOLECULAR ASPECTS OF MEDICINE (2019)
Intermediate-onset colorectal cancer: A clinical and familial boundary between both early and late-onset colorectal cancer
Maria Arriba et al.
PLOS ONE (2019)
Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
Agostina Stradella et al.
JOURNAL OF MEDICAL GENETICS (2019)
Inherited DNA-Repair Defects in Colorectal Cancer
Saud H. AlDubayan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Identification of genetic variants for clinical management of familial colorectal tumors
Mev Dominguez-Valentin et al.
BMC MEDICAL GENETICS (2018)
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients
Michele Ciavarella et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Differential clinicopathological and molecular features within late-onset colorectal cancer according to tumor location
Lorena Brandariz et al.
Oncotarget (2018)
Strongly enhanced colorectal cancer risk stratification by combining family history and genetic risk score
Korbinian Weigl et al.
CLINICAL EPIDEMIOLOGY (2018)
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
Pal Moller et al.
GUT (2017)
Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer
Aung Ko Win et al.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION (2017)
Modeling the prevention of colorectal cancer from the combined impact of host and behavioral risk factors
Matthew Frampton et al.
GENETICS IN MEDICINE (2017)
Outcome of 24 years national surveillance in different hereditary colorectal cancer subgroups leading to more individualised surveillance
Lars Joachim Lindberg et al.
JOURNAL OF MEDICAL GENETICS (2017)
Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review
Peter Broderick et al.
GASTROENTEROLOGY (2017)
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome
Carin R. Espenschied et al.
JOURNAL OF CLINICAL ONCOLOGY (2017)
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
Sigurdis Haraldsdottir et al.
NATURE COMMUNICATIONS (2017)
Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories
Eric T. Rosenthal et al.
CANCER GENETICS (2017)
Recent Discoveries in the Genetics of Familial Colorectal Cancer and Polyposis
Laura Valle
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2017)
Implications of polygenic risk for personalised colorectal cancer screening
M. J. E. Frampton et al.
ANNALS OF ONCOLOGY (2016)
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer
Daniel Chubb et al.
NATURE COMMUNICATIONS (2016)
Multilocus Inherited Neoplasia Alleles Syndrome A Case Series and Review
James Whitworth et al.
JAMA ONCOLOGY (2016)
Left-Sided Early-Onset vs Late-Onset Colorectal Carcinoma Histologic, Clinical, and Molecular Differences
Emanuela Pilozzi et al.
AMERICAN JOURNAL OF CLINICAL PATHOLOGY (2015)
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome
Matthew B. Yurgelun et al.
GASTROENTEROLOGY (2015)
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
N. Lavoine et al.
JOURNAL OF MEDICAL GENETICS (2015)
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
Robbert D. A. Weren et al.
NATURE GENETICS (2015)
Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer
John M. Carethers et al.
WORLD JOURNAL OF GASTROENTEROLOGY (2015)
BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X
P. Garre et al.
CLINICAL GENETICS (2015)
Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency
Taina T. Nieminen et al.
GASTROENTEROLOGY (2014)
Signatures of mutational processes in human cancer
Ludmil B. Alexandrov et al.
NATURE (2013)
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Claire Palles et al.
NATURE GENETICS (2013)
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants
Mark Drost et al.
HUMAN MUTATION (2012)
A High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer
Marina Antelo et al.
PLOS ONE (2012)
First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes
Monika Morak et al.
EUROPEAN JOURNAL OF CANCER (2011)
EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome
Glenn E. Palomaki et al.
GENETICS IN MEDICINE (2009)
Sequence Variant Classification and Reporting: Recommendations for Improving the Interpretation of Cancer Susceptibility Genetic Test Results
Sharon E. Plon et al.
HUMAN MUTATION (2008)
Family history of colorectal cancer - How often and how accurately is it recorded?
J Church et al.
DISEASES OF THE COLON & RECTUM (2000)