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。Decision Model of Segmental Compared With Total Abdominal Colectomy for Colon Cancer in Hereditary Nonpolyposis Colorectal Cancer
Takafumi Maeda et al.
JOURNAL OF CLINICAL ONCOLOGY (2010)
Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers
R. S. van der Post et al.
JOURNAL OF MEDICAL GENETICS (2010)
Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers
Laura Baglietto et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2010)
Towards Identification of Hereditary DNA Mismatch Repair Deficiency: Sebaceous Neoplasm Warrants Routine Immunohistochemical Screening Regardless of Patient's Age or Other Clinical Characteristics
Lurmag Orta et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2009)
Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations
E. Barrow et al.
CLINICAL GENETICS (2009)
Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome
Israel Zighelboim et al.
FAMILIAL CANCER (2009)
Calculation of Risk of Colorectal and Endometrial Cancer Among Patients With Lynch Syndrome
Elena Stoffel et al.
GASTROENTEROLOGY (2009)
PMS2 Involvement in Patients Suspected of Lynch Syndrome
Renee C. Niessen et al.
GENES CHROMOSOMES & CANCER (2009)
Immunohistochemistry staining for the mismatch repair proteins in the clinical care of patients with colorectal cancer
Christopher D. South et al.
GENETICS IN MEDICINE (2009)
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)
Prospective evaluation of DNA mismatch repair protein expression in primary endometrial cancer
Floor J. Backes et al.
GYNECOLOGIC ONCOLOGY (2009)
Deletions Removing the Last Exon of TACSTD1 Constitute a Distinct Class of Mutations Predisposing to Lynch Syndrome
Marietta E. Kovacs et al.
HUMAN MUTATION (2009)
Risk of Pancreatic Cancer in Families With Lynch Syndrome
Fay Kastrinos et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2009)
Cutaneous sebaceous neoplasms as markers of Muir-Torre syndrome: a diagnostic algorithm
Ossama Abbas et al.
JOURNAL OF CUTANEOUS PATHOLOGY (2009)
Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer
M. P. Hitchins et al.
JOURNAL OF MEDICAL GENETICS (2009)
Management of extracolonic tumours in patients with Lynch syndrome
Jan J. Koornstra et al.
LANCET ONCOLOGY (2009)
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3 ' exons of TACSTD1
Marjolijn J. L. Ligtenberg et al.
NATURE GENETICS (2009)
Genetic Testing for Hereditary Colorectal Cancer
Heather Hampel
SURGICAL ONCOLOGY CLINICS OF NORTH AMERICA (2009)
Compound heterozygosity for twoMSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus
Nils Rahner et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Site and tumor type predicts DNA mismatch repair status in cutaneous sebaceous neoplasia
Rajenda S. Singh et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2008)
Systematic Review and Meta-analysis of Ovarian Cancers: Estimation of Microsatellite-High Frequency and Characterization of Mismatch Repair Deficient Tumor Histology
Tuya Pal et al.
CLINICAL CANCER RESEARCH (2008)
Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations
E. Barrow et al.
CLINICAL GENETICS (2008)
Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer
T. Myrhoj et al.
FAMILIAL CANCER (2008)
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
Leigha Senter et al.
GASTROENTEROLOGY (2008)
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR)
Elizabeth C. Chao et al.
HUMAN MUTATION (2008)
The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome
Patrice Watson et al.
INTERNATIONAL JOURNAL OF CANCER (2008)
Biallelic PMS2 mutations and a distinctive childhood cancer syndrome
Tiong Yang Tan et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2008)
The frequency of Muir-Torre syndrome among lynch syndrome families
Christopher D. South et al.
JOURNAL OF THE NATIONAL CANCER INSTITUTE (2008)
Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome
John Burn et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Comparative lesion sequencing provides insights into tumor evolution
Sian Jones et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer
Karen H. Lu et al.
JOURNAL OF CLINICAL ONCOLOGY (2007)
Comment on: Screening for lynch syndrome (Hereditary Nonpolyposis colorectal cancer) among endometrial cancer patients
Heather Hampel et al.
CANCER RESEARCH (2007)
Quantitative Models for Predicting Mutations in Lynch Syndrome Genes
Sining Chen et al.
CURRENT COLORECTAL CANCER REPORTS (2007)
Microsatellite instability is frequently observed in rectal cancer and influenced by neoadjuvant chemoradiation
Michael Y. Choi et al.
INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS (2007)
Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: A population-based study
Mark A. Jenkins et al.
GASTROENTEROLOGY (2007)
Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome
Laura Renkonen-Sinisalo et al.
INTERNATIONAL JOURNAL OF CANCER (2007)
Brief report:: Inheritance of a cancer-associated MLH1 germ-line epimutation
Megan P. Hitchins et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
H. F. A. Vasen et al.
JOURNAL OF MEDICAL GENETICS (2007)
Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer
M. B. Loughrey et al.
FAMILIAL CANCER (2007)
Frequency and application of the hot spot BRAF gene mutation (p.V600E) in the diagnostic strategy for Hereditary Nonpolyposis Colorectal Cancer
Tanya K. Kadiyska et al.
CANCER DETECTION AND PREVENTION (2007)
Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or Keratoacanthomas
Giovanni Ponti et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2006)
Prevalence of the mismatch-repair-deficient phenotype in colonic adenomas arising in HNPCC patients:: results of a 5-year follow-up study
Annegret Mueller et al.
INTERNATIONAL JOURNAL OF COLORECTAL DISEASE (2006)
Prediction of MLH1 and MSH2 mutations in Lynch syndrome
Judith Balmana et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2006)
Prediction of germline mutations and cancer risk in the Lynch syndrome
Sining Chen et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2006)
Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome - A systematic review
Noralane M. Lindor et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2006)
Hereditary non-polyposis colorectal cancer: The rise and fall of a confusing term
Jeremy R. Jass
WORLD JOURNAL OF GASTROENTEROLOGY (2006)
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
Heather Hampel et al.
CANCER RESEARCH (2006)
Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer
Rebecca A. Barnetson et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Decrease in mortality in Lynch syndrome families because of surveillance
AE De Jong et al.
GASTROENTEROLOGY (2006)
Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome
KM Schmeler et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Screening for the Lynch syndrome (Hereditary nonpolyposis colorectal cancer).
H Hampel et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
Low rate of microsatellite instability in young patients with adenomas: Reassessing the Bethesda Guidelines
FS Velayos et al.
AMERICAN JOURNAL OF GASTROENTEROLOGY (2005)
Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer
K Truninger et al.
GASTROENTEROLOGY (2005)
Promoter hypermethylation is associated with tumor location, stage, and subsequent progression in transitional cell carcinoma
JWF Catto et al.
JOURNAL OF CLINICAL ONCOLOGY (2005)
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency - Familial colorectal cancer type X
NM Lindor et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2005)
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer
G Casey et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2005)
Evolution of the nomenclature for the hereditary colorectal cancer syndromes
CR Boland
FAMILIAL CANCER (2005)
Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations
P Bandipalliam
FAMILIAL CANCER (2005)
Systematic review of microsatellite instability and colorectal cancer prognosis
S Popat et al.
JOURNAL OF CLINICAL ONCOLOGY (2005)
A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States
HT Lynch et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2004)
Extensive but Hemiallelic Methylation of the hMLH1 Promoter Region in Early-Onset Sporadic Colon Cancers With Microsatellite Instability
Yasuyuki Miyakura et al.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2004)
Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer
AE de Jong et al.
CLINICAL CANCER RESEARCH (2004)
Clinical features and mismatch repair gene mutation screening in Chinese patients with hereditary nonpolyposis colorectal carcinoma
Shan-Run Liu et al.
WORLD JOURNAL OF GASTROENTEROLOGY (2004)
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing
E Domingo et al.
JOURNAL OF MEDICAL GENETICS (2004)
Mismatch repair gene PMS2:: Disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation
H Nakagawa et al.
CANCER RESEARCH (2004)
Microsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma -: art. no. e91
M Roupret et al.
JOURNAL OF MEDICAL GENETICS (2004)
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations:: Impact on counseling and surveillance
YMC Hendriks et al.
GASTROENTEROLOGY (2004)
Different types of microsatellite instability in ovarian carcinoma
G Singer et al.
INTERNATIONAL JOURNAL OF CANCER (2004)
Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations:: The German hereditary nonpolyposis colorectal cancer consortium
J Plaschke et al.
JOURNAL OF CLINICAL ONCOLOGY (2004)
Challenges and pitfalls in HNPCC screening by microsatellite analysis and immunohistochemistry
A Müller et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2004)
The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC
AE De Jong et al.
GASTROENTEROLOGY (2004)
Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSiGHT mutation database
P Peltomaki et al.
DISEASE MARKERS (2004)
Germline epimutation of MLH1 in individuals with multiple cancers
CM Suter et al.
NATURE GENETICS (2004)
Distinct patterns of microsatellite instability are seen in tumours of the urinary tract
JWF Catto et al.
ONCOGENE (2003)
Mismatch repair gene expression defects contribute to microsatellite instability in ovarian carcinoma
JP Geisler et al.
CANCER (2003)
Gynecologic screening in hereditary nonpolyposis colorectal cancer
FEM Rijcken et al.
GYNECOLOGIC ONCOLOGY (2003)
Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers
PJ Goodfellow et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
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
A Wagner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status in HNPCC-associated tumours
A Ruszkiewicz et al.
PATHOLOGY (2002)
MSI in endometrial carcinoma: Absence of MLH1 promoter methylation is associated with increased familial risk for cancers
AJ Whelan et al.
INTERNATIONAL JOURNAL OF CANCER (2002)
Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability
SA Kuismanen et al.
AMERICAN JOURNAL OF PATHOLOGY (2002)
No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer
L Renkonen-Sinisalo et al.
SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY (2002)
The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma
I Dove-Edwin et al.
CANCER (2002)
Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors
NM Lindor et al.
JOURNAL OF CLINICAL ONCOLOGY (2002)
Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation
FEM Rijcken et al.
GUT (2002)
Molecular and clinical characteristics of MSH6 variants: An analysis of 25 index carriers of a germline variant
MJW Berends et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
AGA technical review on hereditary colorectal cancer and genetic testing
FM Giardiello et al.
GASTROENTEROLOGY (2001)
MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer
MJW Berends et al.
INTERNATIONAL JOURNAL OF CANCER (2001)
Assessment of markers for the identification of microsatellite instability phenotype in gastric neoplasms
HS Kim et al.
CANCER LETTERS (2001)
Microsatellite instability as a tool for the classification of gastric cancer
AJG Simpson et al.
TRENDS IN MOLECULAR MEDICINE (2001)
DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer
H Iino et al.
GUT (2000)
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer
HJ Järvinen et al.
GASTROENTEROLOGY (2000)
Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1
S Syngal et al.
JOURNAL OF MEDICAL GENETICS (2000)
分享论文
