ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). (Q43893519)

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scientific article published on 5 December 2013

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English	ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).	scientific article published on 5 December 2013

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scholarly article

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Europe PubMed Central

PubMed publication ID

27 November 2017

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). (English)

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Europe PubMed Central

PubMed publication ID

27 November 2017

medical genetics

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colorectal cancer

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colorectal carcinoma

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based on heuristic

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familial adenomatous polyposis

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Wade S. Samowitz

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object named as

Wade Samowitz

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PubMed publication ID

27 November 2017

author name string

Madhuri Hegde

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27 November 2017

Mathew Ferber

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27 November 2017

Rong Mao

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27 November 2017

Arupa Ganguly

5

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27 November 2017

Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee

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27 November 2017

language of work or name

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publication date

5 December 2013

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27 November 2017

Genetics in Medicine

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27 November 2017

16

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27 November 2017

1

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27 November 2017

101-116

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PubMed publication ID

27 November 2017

Lynch syndrome and MYH-associated polyposis: review and testing strategy.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Molecular origins of cancer: Molecular basis of colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Increased frequency of disease-causing MYH mutations in colon cancer families.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Genetic testing for lynch syndrome in individuals newly diagnosed with colorectal cancer to reduce morbidity and mortality from colorectal cancer in their relatives

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Preferences for genetic testing to identify hereditary colorectal cancer: perspectives of high-risk patients, community members, and clinicians

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Level of scientific evidence underlying recommendations arising from the National Comprehensive Cancer Network clinical practice guidelines

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Colorectal cancer screening in women with endometrial cancer: are we following the guidelines?

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Evaluation of Bethesda guidelines in relation to microsatellite instability.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Review article: The Lynch syndrome (hereditary nonpolyposis colorectal cancer).

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Determining the frequency of de novo germline mutations in DNA mismatch repair genes

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Constitutive deficiency in DNA mismatch repair: is it time for Lynch III?

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Constitutive deficiency in DNA mismatch repair

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

The hMSH2 and hMLH1 genes in hereditary nonpolyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Lynch syndrome-chasing a better ascertainment rate in British Columbia

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Identification of cancer patients with Lynch syndrome: clinically significant discordances and problems in tissue-based mismatch repair testing

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Epigenetic changes (aberrant DNA methylation) in colorectal neoplasia

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Silencing-specific methylation and single nucleotide polymorphism of hMLH1 promoter in gastric carcinomas.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Methylation of hMLH1 promoter correlates with the gene silencing with a region-specific manner in colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Simultaneous detection of CpG methylation and single nucleotide polymorphism by denaturing high performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Methylation in hMLH1 promoter interferes with its binding to transcription factor CBF and inhibits gene expression

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Genetic testing for hereditary colorectal cancer: challenges in identifying, counseling, and managing high-risk patients

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

DNA extraction from archival formalin-fixed, paraffin-embedded tissues: heat-induced retrieval in alkaline solution

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Erasure of MLH1 methylation in spermatozoa—implications for epigenetic inheritance

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Precision and performance characteristics of bisulfite conversion and real-time PCR (MethyLight) for quantitative DNA methylation analysis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Promoter hypermethylation of mismatch repair gene hMLH1 predicts the clinical response of malignant astrocytomas to nitrosourea

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Simplified detection of microsatellite instability in colorectal cancer without the need for corresponding germline DNA analysis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Molecular testing for microsatellite instability and DNA mismatch repair defects in hereditary and sporadic colorectal cancers--ready for prime time?

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

EPCAM deletions, Lynch syndrome, and cancer risk

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Alfred Knudson and his two-hit hypothesis. (Interview by Ezzie Hutchinson).

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

The future of colon cancer prevention

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Somatic APC mosaicism: an underestimated cause of polyposis coli.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

The I1307K APC polymorphism: prevalence in non-Ashkenazi Jews and evidence for a founder effect

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Prevalence of the APC E1317Q variant in colorectal cancer patients

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Is prophylactic colectomy indicated in patients with MYH-associated polyposis?

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

The role of MYH and microsatellite instability in the development of sporadic colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

A perspective on bi-allelic MUTYH mutations in patients with hyperplastic polyposis syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Effective communication of molecular genetic test results to primary care providers

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

A report template for molecular genetic tests designed to improve communication between the clinician and laboratory

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

21 January 2018

Systematic immunohistochemistry screening for Lynch syndrome in early age-of-onset colorectal cancer patients undergoing surgical resection

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

Using NCCN clinical practice guidelines in oncology to measure the quality of colorectal cancer care in the veterans health administration

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

Metastatic colon cancer, version 3.2013: featured updates to the NCCN Guidelines

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

Testing guidelines for hereditary non-polyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: Probability of synergistic effects

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

Distinct CpG island methylation profiles and BRAF mutation status in serrated and adenomatous colorectal polyps

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

Microsatellite instability and MLH1 hypermethylation - incidence and significance in colorectal polyps in young patients

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

Technical standards and guidelines: molecular genetic testing for ultra-rare disorders

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

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Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

Colorectal polyps in carriers of the APC I1307K polymorphism

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations of the APC Gene in Human Sporadic Colorectal Cancers

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

A high-throughput nonisotopic protein truncation test

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.166

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/GIM.2013.166

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

ResearchGate publication ID

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