ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis and MYH-associated polyposis)
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Title
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis and MYH-associated polyposis)
Authors
Keywords
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Journal
GENETICS IN MEDICINE
Volume 16, Issue 1, Pages 101-116
Publisher
Springer Nature
Online
2013-12-06
DOI
10.1038/gim.2013.166
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- (2012) Michael T Parsons et al. JOURNAL OF MEDICAL GENETICS
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- (2011) A. N. Bartley et al. Cancer Prevention Research
- Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer
- (2011) Lucía Pérez-Carbonell et al. GUT
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- (2011) McKinsey Goodenberger et al. JOURNAL OF CLINICAL GASTROENTEROLOGY
- Determining the frequency of de novo germline mutations in DNA mismatch repair genes
- (2011) A. K. Win et al. JOURNAL OF MEDICAL GENETICS
- Frequency of Deletions of EPCAM (TACSTD1) in MSH2-Associated Lynch Syndrome Cases
- (2011) Kandelaria Rumilla et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Systematic Immunohistochemistry Screening for Lynch Syndrome in Early Age-of-Onset Colorectal Cancer Patients Undergoing Surgical Resection
- (2011) Emily Steinhagen et al. JOURNAL OF THE AMERICAN COLLEGE OF SURGEONS
- MSH6 and MUTYH Deficiency Is a Frequent Event in Early-Onset Colorectal Cancer
- (2010) M. D. Giraldez et al. CLINICAL CANCER RESEARCH
- Genetic Testing for Hereditary Colorectal Cancer: Challenges in Identifying, Counseling, and Managing High-Risk Patients
- (2010) Elena M. Stoffel et al. GASTROENTEROLOGY
- Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: Probability of synergistic effects
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- Level of Scientific Evidence Underlying Recommendations Arising From the National Comprehensive Cancer Network Clinical Practice Guidelines
- (2010) Thejaswi K. Poonacha et al. JOURNAL OF CLINICAL ONCOLOGY
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- (2010) Henry T Lynch et al. LANCET ONCOLOGY
- A Perspective on Bi-allelic MUTYH Mutations in Patients With Hyperplastic Polyposis Syndrome
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- Calculation of Risk of Colorectal and Endometrial Cancer Among Patients With Lynch Syndrome
- (2009) Elena Stoffel et al. GASTROENTEROLOGY
- Germline hypermethylation ofMLH1andEPCAMdeletions are a frequent cause of Lynch syndrome
- (2009) Renée C. Niessen et al. GENES CHROMOSOMES & CANCER
- 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
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- Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications
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- Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer
- (2009) M P Hitchins et al. JOURNAL OF MEDICAL GENETICS
- Molecular Basis of Colorectal Cancer
- (2009) Sanford D. Markowitz et al. NEW ENGLAND JOURNAL OF MEDICINE
- The hMSH2 and hMLH1 Genes in Hereditary Nonpolyposis Colorectal Cancer
- (2009) Patrick M. Lynch Surgical Oncology Clinics of North America
- Detection of APC Gene Deletions Using Quantitative Multiplex PCR of Short Fluorescent Fragments
- (2008) E. Castellsague et al. CLINICAL CHEMISTRY
- Reply
- (2008) Megan P. Hitchins et al. GASTROENTEROLOGY
- ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
- (2008) C Sue Richards et al. GENETICS IN MEDICINE
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