ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
about
Current status of familial gastrointestinal polyposis syndromesPancreaticoduodenectomy for locally advanced colon cancer in hereditary nonpolyposis colorectal cancermirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications.The evolution of colorectal cancer genetics-Part 1: from discovery to practiceMolecular and genetic aspects of odontogenic lesions.Genomic era diagnosis and management of hereditary and sporadic colon cancer.The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management.High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.Genetic architecture of colorectal cancer.The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia.Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer.Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)--update 2014.Two subtypes of colorectal tumor with distinct molecular features in familial adenomatous polyposis.Success of referral to genetic counseling after positive lynch syndrome screening test.Expending Role of Microsatellite Instability in Diagnosis and Treatment of Colorectal Cancers.Mismatch repair deficiency testing in clinical practice.Advances in Biomarkers: Going Beyond the Carcinoembryonic Antigen.Engagement with Genetic Information and Uptake of Genetic Testing: the Role of Trust and Personal Cancer History.Tumor suppressor genes in familial adenomatous polyposisColorectal cancer in the very young: a comparative study of tumor markers, pathology and survival in early onset and adult onset patients.Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC).Detecting APC Gene Mutations in Familial Adenomatous Polyposis (FAP).MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing.TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes
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ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
@wuu
2013年学术文章
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2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
ACMG technical standards and g ...... and MYH-associated polyposis).
@en
ACMG technical standards and g ...... and MYH-associated polyposis).
@nl
type
label
ACMG technical standards and g ...... and MYH-associated polyposis).
@en
ACMG technical standards and g ...... and MYH-associated polyposis).
@nl
prefLabel
ACMG technical standards and g ...... and MYH-associated polyposis).
@en
ACMG technical standards and g ...... and MYH-associated polyposis).
@nl
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ACMG technical standards and g ...... and MYH-associated polyposis).
@en
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Arupa Ganguly
Madhuri Hegde
Mathew Ferber
Wade Samowitz
Working Group of the American ...... ry Quality Assurance Committee
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P2888
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10.1038/GIM.2013.166
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P577
2013-12-05T00:00:00Z
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P6179
1007473098